genetic forecast

ASPIRINA...ma non per tutti

2011-09-07T12:30:00.003+01:00

(HealthDay News)

Basse dosi di Aspirina possono aiutare a ridurre il rischio di attacco cardiaco in molte persone, ma non è una terapia preventiva adatta a tutti!

L'Associazione Americana per il Diabete sostiene che si dovrebbe evitare la terapia con Aspirina se:

Avete un'allergia all'Aspirina.
Avete una bassa capacita' di coagulazione e sanguinate facilmente.
Avete avuto emorragie recenti nel tratto gastro-intestinale.
Avete una patologia al fegato.
Siete più giovani di 21 anni.

L'Associazione consiglia di consultare il medico per determinare se la terapia con Aspirina è sicura per voi.

Giornata Mondiale delle Epatiti: 28 Luglio

2011-07-26T07:13:00.002+01:00

Epatite: colpisce una persona su dodici.

Di epatiti virali, con un occhio in particolare all’epatite C e all’epatite B, si parlerà in tutto il mondo il 28 luglio, in occasione del World Hepatitis Day (la Giornata Mondiale delle Epatiti).

L’evento è organizzato dal 2008 dalla World Hepatitis Alliance, un’organizzazione internazionale no profit che raggruppa un gran numero di associazioni e istituzioni e dà voce a oltre 500 milioni di persone che convivono nel mondo con epatite B ed epatite Ccronica.

L’iniziativa è promossa in collaborazione con l’OMS, che nel 2010 ha dichiarato le epatiti emergenza sanitaria globale e ha chiesto ufficialmente a tutti i governi di farsi carico di attività e campagne volte a fronteggiare il problema.

L’obiettivo principale di questa edizione del World Hepatitis Day è proprio quello di far conoscere quanto più possibile le epatiti e soprattutto di informare i cittadini di tutto il mondo sulla pericolosità di queste patologie. Nonostante i numeri dell’epidemia, che colpisce un individuo su dodici, gran parte delle persone non conosce le epatiti virali, non sa come si contraggono e come si possono prevenire né sa di esserne affetto.

Non a caso la World Hepatitis Alliance focalizza la sua comunicazione sul messaggio “Am I number 12?” ("Sono io il numero 12?").

Questa dilagante superficialità fa sì che in gran parte dei casi si arrivi ad una diagnosi tardiva.

L’importanza di iniziative come il World Hepatitis Day risiede, quindi, proprio nel suo obiettivo dichiarato: informare e sensibilizzare, perché “le epatiti colpiscono chiunque. In qualsiasi parte del mondo”.

Fonte: Paginemediche.it

Eat broccoli and live longer

2011-07-14T21:44:00.001+01:00

To the likely delight of nagging parents, a new study shows that people who eat more fruit and veggies tend to live longer.

Plants from the mustard family -- including broccoli, cabbage, and cauliflower -- seem particularly beneficial, although the study can't prove that eating more vegetables automatically increases longevity.It's possible, for instance, that those who consume lots of produce also have a healthier lifestyle in general. Still, the findings "provide strong support for the current recommendation to increase vegetable consumption to promote cardiovascular health and overall longevity," study researcher Dr. Xianglan Zhang, of Vanderbilt University School of Medicine in Nashville, Tennessee, told Reuters Health.Mustard-family vegetables are high in vitamin C and fiber and also contain other nutrients that may have health benefits.The study, published in the American Journal of Clinical Nutrition, is based on a survey of nearly 135,000 adults from Shanghai, China.Participants filled out questionnaires about their eating habits and health history, and the researchers then divided them into five categories according to how much produce they ate.Over five years, four percent of the people died. Those who downed the most vegetables or fruits, however, were 15 percent less likely to die over that period than those who ate the fewest.For mustard-family vegetables, there was an even bigger difference in death rates between people with high and low intakes.The researchers found a similar pattern when they looked at people dying from heart disease -- about a quarter of all deaths in the study. But there was no evidence that eating fruits and vegetables was linked to cancer risk.According to Dr. Lydia Bazzano, who was not involved in the study, the results are promising. But they don't prove that just eating more fruit and vegetables will necessarily make people live longer."Unmeasured health habits may account for some of the association,"Bazzano, of Tulane University Health Sciences Center in New Orleans, told Reuters Health.The researchers did try to rule out alternative explanations -- such as age, weight, exercise, vitamin use, and smoking -- but acknowledge there could be more factors at play.Still, they encourage people to eat more produce, especially vegetables from the mustard family, as a step toward living longer, healthier lives.Heart disease is the leading killer worldwide, causing more than 600,000 deaths every year in the U.S., according to the Centers for Disease Control and Prevention. The CDC recommends eating two to four cups of fruit and vegetables daily.

SOURCE: http://bit.ly/isQvG1 American Journal of Clinical Nutrition, online May 18, 2011

Could a Diet Help Prevent Alzheimer's?

2011-07-05T21:40:00.002+01:00

The low-fat, low-glycemic diet often promoted for general health and well-being may lower the risk of developing Alzheimer's disease if adopted early in life, researchers say.

But starting such an eating plan after symptoms surface doesn't seem to help prevent deterioration of brain function, according to new research published online June 13 in Archives of Neurology."

This is not the first time this concept has emerged, that things you do in midlife or earlier on may have effects later on," said Dr. Marc L. Gordon, chief of neurology at Zucker Hillside Hospital and an Alzheimer's researcher at the Feinstein Institute for Medical Research in Manhasset, N.Y." For example, we know that midlife obesity is associated epidemiologically with a higher risk of late-life dementia," he continued. "Whether that's causal or an effect of the disease is open to speculation, but it suggests that there may be periods of vulnerability that are different in different times in the life span."

Although numerous studies have probed connections between lifestyle factors and cognitive ability, no solid proof yet exists that diet (or much else) can prevent Alzheimer's, the most common form of dementia among the elderly. A low-glycemic diet, which focuses on eating fruits and vegetables, whole grains and lean meats, avoids spikes in blood sugar and is said to promote feelings of fullness.

A U.S. National Institutes of Health conference convened last spring concluded that, for now, older age is the leading known risk factor for Alzheimer's disease. A gene variation is also tied to increased risk for the brain disorder, the NIH review said. Experts at the conference stressed that the general public should still focus on avoiding behaviors already linked to other chronic diseases.This new study looked at the effect of different diets on biomarkers associated with Alzheimer's, such as blood sugar levels, cholesterol and blood lipid levels. The researchers also tested memory after participants followed the assigned diets. Twenty healthy adults and 29 with mild memory problems that could be predictive of Alzheimer's followed either a high-fat, high simple-carbohydrate diet ("HIGH" diet) or a diet lower in fat and simple carbohydrates ("LOW" diet). After four weeks, healthy participants on the LOW diet had changes in biomarkers, including insulin and lipid levels in the blood, which were moving away from those normally associated with dementia. In participants with mild cognitive impairment, this diet had the opposite effect.Commenting on the study, Dr. Suzanne de la Monte, professor of neurosurgery and pathology at Brown University and Rhode Island Hospital in Providence, said it remains to be seen if the changes noted in this study actually translate, over the longer term, into differences in risk for developing Alzheimer's disease.

The bottom line, though, is the same as it's been for eons: A healthy diet lowers your risk of type 2 diabetes, heart disease, cancer and maybe even Alzheimer's.That means staying away as much as possible from processed foods, de la Monte advised.A second study, in the same issue of the journal, also looked at biomarkers and found that different levels were associated with different measures of cognitive function associated with Alzheimer's disease.

This finding could help improve diagnosis of Alzheimer's, which now relies mostly on clinical observation.

SOURCES: Marc L. Gordon, M.D., chief, neurology, Zucker Hillside Hospital and Alzheimer's research, the Feinstein Institute for Medical Research, Manhasset, N.Y.; Suzanne de la Monte, M.D., professor of neurosurgery and pathology, Brown University and Rhode Island Hospital, Providence, R.I.; June 13, 2011, Archives of Neurology, online

FDA Approves HER2 Test for Breast Cancer

2011-07-01T21:46:00.001+01:00

The genetic test allows for the measurement of the number of copies of the HER2 gene in breast tumor tissue, enabling clinicians to make more informed decisions about whether a patient would be a candidate for Herceptin therapy.

Vitamin D Deficiency

2011-06-30T21:37:00.002+01:00

It has long been known that getting enough vitamin D is key to bone health, yet vitamin D deficiency remains a common health issue, experts say.

According to the Endocrine Society, very few foods naturally contain or are fortified with vitamin D, and sunlight is one of the best sources of the nutrient. People who don't get enough vitamin D are at risk for calcium, phosphorus and bone metabolism abnormalities, which can lead to a number of diseases, including osteoporosis. Children with a vitamin D deficiency can also develop skeletal deformities known as rickets, the experts pointed out in a society news release."

Vitamin D deficiency is very common in all age groups, and it is important that physicians and health-care providers have the best evidence-based recommendations for evaluating, treating and preventing vitamin D deficiency in patients at highest risk," Dr. Michael F. Holick, of Boston University School of Medicine, said in the news release. Holick chairs a task force that authored the society's new clinical practice guidelines published in the July issue of the Journal of Clinical Endocrinology & Metabolism. The Endocrine Society issued the guidelines in response to the possible health risks associated with vitamin D deficiency. Among the group's recommendations:People who are considered at high risk should be routinely screened for vitamin D deficiency. People who are diagnosed with a vitamin D deficiency should be treated with either a vitamin D2 or vitamin D3 supplement. To maximize bone health and muscle function, people considered at high risk for a deficiency should adhere to the following guidelines for dietary intake of vitamin D:Infants up to 12 months of age require at least 400 international units (IU) a day. Children older than 1 year and adults from 19 to 70 years old, including pregnant and lactating women, should consume at least 600 IU daily.People older than 70 years should get a minimum of 800 IU a day. The task force stressed that in order to raise the blood level of vitamin D consistently above 30 nanograms per milliliter, a significantly higher intake of vitamin D may be required. The group also noted that vitamin D screening is not necessary for people who are not considered at risk for the deficiency. And, it said there is no evidence supporting use of vitamin D supplements for benefits other than bone health.

SOURCE: The Endocrine Society, news release, June 6, 2011

High folate levels does not influence B12 levels

2011-06-26T21:32:00.003+01:00

NIH study addresses concerns about high folate levels.

Increased folic acid from supplements, fortified foods not likely to affect B12 deficiency.

Taking folic acid supplements or eating fortified grain products is unlikely to worsen problems related to low levels of vitamin B12, according to researchers at the National Institutes of Health and five other institutions in the United States, Ireland and Norway.

In the United States, bread, cereal and other enriched flour products have been fortified with folic acid (the synthetic form of the vitamin folate) since 1998. Women with low levels of folate are at increased risk for conceiving a child with birth defects of the brain and spinal cord known asneural tube defects. The number of infants born with these birth defects has fallen since fortified foods were introduced.Researchers have been concerned that the level of folic acid in fortified grains — needed to reduce women’s risk for conceiving a child with a neural tube defect — might be too high for other people. These concerns stem from earlier studies that found higher rates of anemia and other blood abnormalities in people with low B12 levels who also had high folate levels. The people with low B12 and high folate levels were more likely to have anemia than did people with low B12 levels and normal folate levels.However, many of these studies were conducted in older people, a group more likely to have difficulty absorbing B12. Researchers were uncertain whether these blood abnormalities were due to the high folate levels or to medical conditions common to older people. For this reason, the NIH researchers conducted the current study in otherwise healthy younger people to determine if high folate levels alone had an influence on B12 metabolism.The body uses vitamin B12 to make red blood cells. Because they may have difficulty absorbing sufficient B12, it is recommended that adults over age 50 should take a supplement. People with low B12 levels can develop anemia, a condition in which the body does not make enough red blood cells to carry oxygen throughout the body. They may also develop numbness and tingling in the hands and feet."Our findings are reassuring for people who have low vitamin B12 levels," said first author James L. Mills, M.D., M.S., senior investigator in the Division of Epidemiology, Statistics and Prevention Research at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the NIH institute that conducted the study. "We found no evidence that folate could worsen their health problems. Consuming higher amounts of folate does not seem to interfere with the body’s use of vitamin B12 in otherwise healthy individuals."

Folate is the naturally occurring form of folic acid. Leafy green vegetables, citrus fruits, and beans all are sources of the vitamin.The NIH researchers theorized that underlying medical problems among elderly participants could have affected earlier results. One such potential problem is pernicious anemia, a condition in which the body does not make enough of the protein needed to absorb B12 from the intestines. Other disorders or a history of intestinal surgery also could hinder the absorption of B12.

For their study, the researchers examined blood samples from a group of B12-deficient university students, screening the samples for conditions that could affect B12 absorption. The researchers found no increase in anemia rates or blood abnormalities in the high-folate group when compared with the low-folate group."In our study, we carefully checked for people who had intestinal surgery or disorders that disrupt the absorption of B12, to be sure that they did not bias our analysis," Dr. Mills said.Dr. Mills conducted the study in collaboration with nine researchers at the NIH’s National Human Genome Research Institute; Trinity College in Ireland; the University of California, Berkeley; the Health Research Board of Ireland; and the University of Bergen, Norway.Their findings appear in the American Journal of Clinical Nutrition.More than 2,500 university students participated in the study. They reported the amount and type of fortified foods and vitamin supplements they had consumed in the previous week and in an average month. They also provided blood samples.The researchers found that about 5 percent of the students were B12 deficient. The researchers further divided the students with low B12 into two groups: those with high blood folate levels, and those with low folate levels.To diagnose anemia, the researchers measured blood levels of the protein hemoglobin. They found that the rates of anemia did not differ significantly between the two groups. Moreover, those with high folate levels did not have higher blood concentrations of chemicals that are increased when B12 function is abnormal."High folate does not appear to increase the risk of anemia among healthy people with low B12 levels," Dr. Mills said.To reduce their risk of conceiving a child with a neural tube defect, it is recommended that all women capable of becoming pregnant consume 400 micrograms per day of synthetic folic acid (from fortified foods and/or supplements) in addition to food forms of folate from a varied diet.

Scientists Identify Genes Linked to Migraines

2011-06-20T21:03:00.001+01:00

Inheriting any one of 3 gene variants raises risk for severe headaches by up to 15%, researchers say.

Researchers have identified three genes linked to migraine headache and found that people who inherit any one of these genes have a 10 to 15 percent greater risk for the condition.

Migraine headache -- an abnormality in the response of nerve cells to stimuli -- is characterized by recurring severe headaches, which often result in nausea as well as sensitivity to light and sound.In examining genetic data from more than 23,000 women, including over 5,000 migraine sufferers, the researchers found an association between the headaches and variations in three genes: TRPM8 (which plays a role in sensitivity to cold and pain), LRP1 (a gene involved in the transmission of signals between neurons) and PRDM16.

"While migraine remains incompletely understood and its underlying causes difficult to pin down, identifying these three genetic variants helps shed light on the biological roots for this common and debilitating condition," the study's lead author, Dr. Daniel Chasman, assistant professor in the preventive medicine division at Brigham and Women's Hospital and Harvard Medical School, said in a hospital news release.

One migraine expert called the findings "very exciting." "The thinking for a long time was that migraine is most commonly a multi-genetic condition with potentially many genetic variations that contribute," noted Dr. Audrey Halpern, clinical assistant professor in the department of neurology at NYU Langone Medical Center in New York City. "We clearly understand now that migraine is a condition characterized by disordered sensory processing."Although the study authors said the findings are encouraging, they noted that more research is needed to better understand exactly how each of these three genes is associated with migraine.Halpern agreed that much more study lies ahead to unravel the genetics of migraine. "This current research will help us more fully understand what happens during migraine, but there is also much more to learn," she said. "We've always known it's a genetic condition -- but the last 10 years we've learned it's a neurological condition. This study brings those two ideas together."

The report is published in the June 12 online edition of the journal Nature Genetics.

SOURCES: Audrey Halpern, M.D., clinical assistant professor, department of neurology, NYU Langone Medical Center, New York City; Brigham and Women's Hospital.

Caffeine

2011-06-14T20:50:00.006+01:00

(Reuters Health) - Women with heart disease who down a few cups of coffee each day tend to live as long as those who avoid the beverage, a large study finds.

The results was reported in the American Journal of Clinical Nutrition. In theory, coffee could be problematic because it has caffeine and other compounds that can raise blood pressure or have other negative effects on the cardiovascular system. But some studies have found that coffee drinkers have no increased risk of a second heart attack or premature death. A few others have even hinted at protective effects from coffee.In this study, which followed nearly 12,000 U.S. nurses with a history of heart disease or stroke, those who regularly drank caffeinated coffee were no more likely to die than non-coffee-drinkers during the study period - which for some was more than 20 years.

Researchers found no link between a woman's coffee intake and her risk of death from heart attack, stroke or any other cause. And that was true even of women who downed four or more cups per day."What this study shows is that, in a general population, there's no obvious harm, or benefit, to consuming coffee after a heart attack," said Ahmed El-Sohemy, an associate professor at the University of Toronto who has studied coffee intake and heart health. The problem is that certain individuals may benefit from some caffeine, while others may be harmed, according to El-Sohemy, who was not involved in the new study.Some research, for example, has linked coffee drinking to increased risks of high blood pressure in people who are naturally "slow metabolizes" of caffeine. But the reverse pattern has been seen in people who quickly process caffeine: more coffee, lower heart risks.

The findings, Lopez-Garcia said, "support the idea" that people with heart disease who already drink coffee do not have to give it up. But she also advised checking with your doctor, particularly if you have uncontrolled high blood pressure or other conditions that could be aggravated by caffeine -- like sleep problems or anxiety.

El-Sohemy was even more cautious. It is hard to make individual recommendations on safe coffee intake, according to the researcher, because of genetic variations in people's caffeine metabolism. "I don't see how any results can be interpreted from studies that don't take this genetic difference into account," El-Sohemy said. Tests for genetic variations in the enzyme that processes caffeine are not routinely available, he noted.

SOURCE: http://bit.ly/kUXi5R American Journal of Clinical Nutrition, online May 11, 2011.

Un calcio... di salute - Blog del Benessere

2010-04-21T21:05:00.000+01:00

Chi si interessa di salute e benessere sa già quanto sia importante assumere le giuste quantità dicalcio per prevenire l'osteoporosi. Ma ora dalla letteratura scientifica arrivano nuovi dati che allargano il raggio d'azione del calcio. Uno dei dati più recenti e interessanti riguarda il rapporto fra calcio assunto con la dieta e longevità, approfondito dai ricercatori del Karolinska Institutet di Stoccolma. Per gli autori dello studio, un apporto di calcio superiore a quello giornaliero raccomandato potrebbe ridurre la mortalità per tutte le cause.

Altri studi suggeriscono, invece, che basse assunzioni di calcio possano rappresentare un fattore di rischio importante per altre patologie, come la preeclampsia, l'ipertensione e il cancro del colon. Altre novità dalla ricerca riguardano il possibile ruolo del calcio nel ridurre l'aumento di grasso intra-addominale nella premenopausa e nell'alleviare i sintomi della sindrome premestruale.

Ma quanto calco dobbiamo assumere ogni giorno? Secondo i Larn (Livelli di assunzione raccomandati di nutrienti (elaborati dalla Società Italiana di Nutrizione Umana), il fabbisogno deve essere particolarmente elevato in età evolutiva, con un massimo nell’adolescenza e deve mantenersi elevato fino ai 29 anni circa ovvero fino a quando è possibile aumentare la massa scheletrica. Nell'età adulta, quando ormai si è raggiunto il picco di massa ossea, le necessità si abbassano a 800 mg al giorno. Durante la gravidanza e l’allattamento si consiglia ovviamente di aumentare l'assunzione di calcio per prevenire il depauperamento del patrimonio minerale della donna. Anche nell'anziano, in cui si registra una riduzione dell’assorbimento, si consiglia di aumentare la quota di calcio ingerita per ridurre la perdita di massa ossea.

DNA analysis for disease risk isn’t catching on among consumers

2010-04-16T10:31:00.000+01:00

Connected to Google by both love and money, 23andMe seems the epitome of a 21st-century company — a cutting-edge merging of biotechnology and the Internet, with a dash of celebrity thrown in.

The scarce ingredient so far is customers.

23andMe is the most prominent of a trio of companies that in 2007 began using the Web to market personal genomics services. The companies scan people’s DNA, promising to tell them their risks of getting dozens of diseases. Propelled by its co-founder Anne Wojcicki, the wife of Google’s billionaire co-founder Sergey Brin, 23andMe attracted attention by holding swanky “spit parties” where people gave saliva samples for DNA analysis. Rich and famous people like Rupert Murdoch, Harvey Weinstein and Ivanka Trump became customers and in some cases investors.

But for the common consumer, 23andMe’s service — and those from its main competitors, Navigenics and DeCode Genetics — have been a much harder sell. Two and a half years after beginning its service, 23andMe has only 35,000 customers. And at least one quarter of them got the service free or for only $25, instead of the hundreds of dollars on which the business model is based. Navigenics and DeCode have even fewer customers.

The low turnout suggest that many people have not yet embraced the genomics age. It does not help, either, that the services cost $300 to $2,000 and have been trying to catch on during a severe recession.

But the services face an even more fundamental problem: In most cases, the current level of DNA scanning technology and science is unable to offer meaningful predictions about the risk that a person will get a disease.

“It is a really wonderful form of recreation,” said Scott R. Diehl, a geneticist at the University of Medicine and Dentistry of New Jersey. But as for applying it to health care, he said, “It’s very premature.”

The companies have been forced to adjust. Named for the 23 pairs of human chromosomes, 23andMe went through two rounds of layoffs last year. The company, which is privately held and based in Mountain View, Calif., has fewer than 40 employees, down from a peak of about 70. Navigenics, based in Foster City, Calif., is on its third chief executive in a year and has also trimmed its workforce. It is now marketing to doctors and corporate wellness programs rather than consumers.

People close to the company estimate that Navigenics has about 20,000 customers, at least 5,000 of whom were given big discounts to be in a study.

And DeCode Genetics, based in Iceland, passed through bankruptcy following heavy spending to develop drugs and diagnostic tests. The DecodeMe personal genomics service, while only one part of the company’s business, apparently attracted fewer than 10,000 customers.

Multiple Common Variants for Celiac Disease Influencing Immune Gene Expression

2010-03-31T13:09:00.002+01:00

Celiac.com 03/11/2010 - As part of an effort to investigate the possibility of multiple common variants for celiac disease influencing immune Gene Expression

The process by which a gene\'s coded information is converted into the structures present and operating in the cell. Expressed genes include those that are transcribed into mRNA and then translated into protein and those that are transcribed into RNA but not translated into protein (e.g., transfer and ribosomal RNAs).'); return false" style="color: rgb(80, 136, 1); text-decoration: underline; border-top-width: 0px; border-right-width: 0px; border-bottom-width: 0px; border-left-width: 0px; border-style: initial; border-color: initial; ">Gene Expression, a team of more than sixty scientists recently worked together to conduct a second-generation genome-wide association study (GWAS) of 4,533 individuals with clinically proven celiac disease, along with 10,750 control subjects.

They genotyped a total of 113 selected SNPs with PGWAS <>

The GWAS included five European sample collections of celiac disease and control cases, including the celiac disease dataset reported previously. The team's stringent data quality control measures included calling genotypes using a custom algorithm on both large sample sets and, where possible, cases and controls together. The team tested 292,387 non-HLA

Human Leukocyte Antigen - elicit the strongest immunologic response in the body, and chromosome 6 is the genetic region that codes for these antigens. The genes that encode the class II molecules DQ2 and DQ8, the key genetic risk factors in celiac disease. Because the HLA complex is inherited intact as two haplotypes (one from each parent), siblings have 1 in 4 chance of being HLA-identical.'); return false" style="color: rgb(80, 136, 1); text-decoration: underline; border-top-width: 0px; border-right-width: 0px; border-bottom-width: 0px; border-left-width: 0px; border-style: initial; border-color: initial; ">HLA SNPs from the Illumina Hap300 marker pool for association in 4,533 individuals with celiac disease and 10,750 control subjects of European descent. They also tested another 231,362 additional non-HLA markers from the Illumina Hap550 marker set for association in a subset of 3,796 individuals with celiac disease and 8,154 controls. All markers came from autosomes or the X chromosome. For both datasets, Genotype call rates were >99.9%.

The study showed over-dispersion factor of association test statistics comparable to that observed in other GWASs of this sample size. Factoring in missing genotypes for 737 cases with celiac disease genotyped on the Hap300 BeadChip and corresponding controls did not change the findings in any meaningful way. Variants from 13 new regions reached genome-wide significance (Pcombined < class="HelpLink" href="javascript:void(0)" onclick="">T-cell

A small lymph cell created in the thymus which orchestrates the immune system\'s response to infected or malignant cells. Also known as a T lymphocyte.'); return false" style="color: rgb(80, 136, 1); text-decoration: underline; border-top-width: 0px; border-right-width: 0px; border-bottom-width: 0px; border-left-width: 0px; border-style: initial; border-color: initial; ">T-cell selection.

The data suggested associations for 13 additional regions. Expression quantitative trait meta-analysis of 1,469 whole blood samples showed that 52.6% of tested loci (20 of 38 loci) had celiac risk variants corresponding with cis gene expression (P <>

Source: Nature Genetics

Medicine’s Future Could Lie in Each Patient’s Genome

2010-03-26T13:07:00.001Z

Two separate scientific teams announced this week that they had successfully sequenced individual genomes to pinpoint precise genetic causes of illness — breakthroughs that open the door to a future of individualized, genomics-based medicine.

“This is another milestone in the inevitable march towards personalized genetic health,” said Dr. Robert Marion, chief of genetics and development medicine and director of the Center for Congenital Disorders at Children’s Hospital at Montefiore Medical Center in New York City. “Medicine is going to change from waiting for symptoms to develop to knowing what this person is at risk for and being able to stop that from happening. Eventually, we’re talking about prevention.”

One day in the future, Marion predicted, doctors will be able to look at all 20,000 or 25,000 genes in a newborn baby and be able to say whether the child has specific genetic disorders, or a twofold increased risk of developing colon cancer or a higher chance of developing childhood asthma.

And the cost to perform such feats has come way down, with experts at one company predicting that genomes could one day be sequenced for as low as $5,000. Right now, the cost hovers closer to $50,000.

“When it gets to the point where it would cost less to sequence the genome using these techniques than it does to send off a sample to test for a few genes, then you can start moving medicine from just seeing people who are sick to trying to prevent people from getting sick,” said Dr. Jeffery Vance, director of the Center for Genomic Medicine at the Hussman Institute for Human Genomics, University of Miami Miller School of Medicine. “You can see where things are going. This is showing that it’s practical, it can be done and that medicine will start slowly to move toward using this technique as a diagnostic technique for all these individuals and families who have what looks like an inherited disease but not a big family history.”

And, Vance pointed out, genes don’t change like cholesterol and blood pressure do. These tests would only have to be performed once.

The predictions are based on breakthroughs reported this week in two journals, the New England Journal of Medicine and Science.

Dr. James Lupski, vice chair of molecular and human genetics at Baylor College of Medicine in Houston, was both the lead author and the subject of the NEJM study. Lupski suffers from a genetic disorder, Charcot-Marie-Tooth syndrome, which affects nerve function.

By sequencing his genome, the NEJM authors were able to trace the disorder to mutations in copies of the SH3TC2 gene he and three siblings inherited from healthy parents.

For Lupski, who already knew he had this disease, the findings probably don’t come as much of a shock. But suppose people don’t know they have this or another single-gene conditon?

In the old days — meaning last week — experts would have had to suspect which disease the patient had, then hone in on the area of the genome thought to be associated with the disorder. Even then, the results could be far from certain.

“The breakthrough is that now we would be able to make this diagnosis without having any preconceived idea that the patient had Charcot-Marie-Tooth disease,” Marion said.

The second team of researchers sequenced the genomes of two parents and two children from the same family with single-gene diseases. They reported that only 60 of the three billion base pairs in the human genome mutate randomly each generation. That’s about half the rate of mutation that was thought to be passed generation to generation.

How were scientists able to make these leaps?

One big factor has been the advent of new technology with the ability to sequence large amounts of DNA very quickly, explained Marion. Previous technology could only analyze bits of material at a time.

For now, the technology is likely to be helpful only with single-gene disorders which, when it comes to genetics, are relatively easy targets.

“It becomes more difficult with complex disorders because these disorders are not due to one single gene but a combination of genetic factors in multiple genes, as well as environmental factors,” said Marion, author of Genetic Rounds: A Doctor’s Encounters in the Field that Revolutionized Medicine.

“For single-gene disorders, this technology is a breakthrough,” he continued. “But for the more complicated polygenomic or multifactorial conditions, which is every condition that affects humans — diabetes, blood pressure, coronary artery disease and cancer — there’s a complex interplay between multiple genes and the environment. And sorting that out using the technology we have available now is still not possible.”

“Right now, it has its biggest effect where one of the 25,000 or so genes we have by itself doesn’t work right,” Vance agreed. “It won’t have much effect on common diseases like cancer and Alzheimer’s.”

Another expert agreed that the breakthrough could have its limits.

“This showed that there’s tremendous variability between individuals, and if you’re a cup-is-half-full kind of guy, this creates wonderful possibilities for the concept of personalized medicine,” said Richard H. Finnell, professor of environmental and genetic medicine at Texas A&M Health Science Center Institute of Biosciences and Technology in Houston.

“But if you’re a cup-is-half-empty kind of guy, we’ve been treating a lot of disorders with aspirin for a heck of a long time without differentiating individuals or even necessarily knowing what the mechanism of action of a drug is and [still] gotten some benefit,” he noted.

But, for many patients, an accurate diagnosis will at least be a move in the right direction.

“If you were the parent of a child with a disorder and you had taken your child to doctor after doctor after doctor and were given either no diagnosis or a vague diagnosis, to even have a clear-cut diagnosis that doesn’t come with an intervention, that’s a huge step forward and a great relief,” Finnell said.

In the meantime, traditional genome-wide association studies, which compared the genomes of people who had a disease with people who didn’t have the disease, are going to be “left in the dust,” Marion said.

More information

Learn more about genetics at the Human Genome Project.

By Amanda Gardner

Personal look at genes locates disease causes

2010-03-22T11:13:00.000Z

Children inherit about 30 mutated genes from each parent, fewer than had been thought, but enough in at least one case to pass on inherited illnesses, according to a first detailed look at the blueprint for human life in a family.

And a separate study of an individual genome located the cause of another inherited disease. The blueprint for life, called DNA, contains about 22,000 genes, and researchers calculated the number of changes by analyzing the genes of a mother, father, and their son and daughter. The result, reported in Thursday’s online edition of the journal Science, found that the children had about 30 mutations from each parent for a total of 60 changes passed along to the offspring.

Scientists previously had thought a child had about 75 mutated genes from the parents. The rate of mutations probably will vary somewhat, depending on the age of the parents, said co-author Lynn B. Jorde, chairman of the Department of Human Genetics at the University of Utah School of Medicine. Most mutations are thought to be unimportant, but the rate at which things change is considered critical, helping explain the gradual development of changes.

Genomic studies can help researchers find ways to identify individual genes or mutations that can lead to inherited disease. Jorde and the senior author, David J. Galas, of the Institute of Systems Biology in Seattle studied a family in which the parents had no genetic abnormalities, but each carried recessive genes that resulted in their son and daughter being born with two extremely rare conditions — Miller’s syndrome and primary ciliary dyskinesia.

Miller’s syndrome, which causes facial and limb malformations, has been diagnosed in only two families in the world. PCD is a condition in which the tiny hair-like structures that are supposed to move mucus out of airways in the lungs do not function. The chances of having PCD are estimated at one in 10,000. Jorde said the odds of someone having both PCD and Miller’s syndrome are less than one in 10 billion. “We were very pleased and a little surprised at how much additional information can come from examining the full genomes of the same family,” Galas said in a statement.“ Comparing the sequences of unrelated individuals is useful, but for a family the results are more accurate. We can now see all the genetic variations, including rare ones, and can construct the inheritance of every piece of the chromosomes, which is critical to understanding the traits important to health and disease,” he said.

The family was not named in the report. Meanwhile, a separate report in the New England Journal of Medicine disclosed that Dr. James Lupski of Baylor College of Medicine had sequenced his own complete genome and identified the gene involved in his form of Charcot-Marie-Tooth syndrome, which affects the function of nerves in the body’s limbs, hands and feet. Lupski, vice chairman of molecular and human genetics, said the work “demonstrates that the technology is robust enough that we can find disease genes by determining the whole genome sequence. We can start to use this technology to interpret the clinical information in the context of the sequence — of the hand of cards you have been dealt.” “Isn’t that the goal or dream of personalized genomic medicine?” he said in a statement.Lupski said he has known for 40 years that he had a disease caused by recessive genes. Now he knows the gene at fault.

And Lupski and colleagues found that having a single copy of the recessive mutation is susceptible to carpal tunnel syndrome, which usually affects people who perform repetitive motions that compress a nerve where it crosses the wrist.

Personalized Medicine Spurred by Medco’s Gene Testing

2010-03-18T07:04:00.000Z

March 11 (Bloomberg) -- Medco Health Solutions Inc., the second-biggest U.S. manager of drug benefits, is encouraging doctors to use genetic tests to determine whether drugs will work for particular patients -- saving money and reducing harm caused when prescriptions are wrong.

Medco, based in Franklin Lakes, New Jersey, said on Feb. 2 that it acquired DNA Direct Inc., a genetic testing company in San Francisco. In December Medco’s larger rival, CVS Caremark Corp., had increased its investment in Generation Health, another provider of genetic testing services to guide drug prescribing. The companies, which help employers and health plans administer drug benefits, say targeting medicines to people whose genetic makeup shows they will benefit may cut the use of drugs, and the expense.

While scientists have touted genetic testing for more than a decade, the benefit managers will spur the adoption of screening, said Edward Abrahams, executive director of the nonprofit Personalized Medicine Coalition. “The pharmacy benefit managers are bringing personalized medicine to millions of patients for the first time,” said Abrahams, whose Washington-based group includes the drugmakers Bristol-Myers Squibb Co. and Pfizer Inc., as well as government agencies and patient-advocacy groups. “It could be the tipping point, bringing better medical outcomes and lower costs.

”Medco rose $1.85, or 3 percent, to $64.64 at 4:15 p.m. in New York Stock Exchange composite trading and has increased 75 percent in the past 12 months. Twenty-six analysts have ‘buy’ ratings on Medco and seven have “hold” opinions, according to data compiled by Bloomberg. CVS fell 19 cents to $34.66.

Going Generic - Driving the Medco shares is the number of drugs going generic, as Medco has a higher profit margin on those than on branded products, said Arthur Henderson, an analyst at Jefferies & Co. in Nashville, Tennessee. Medco’s role in personalized medicine and disease management will benefit the company in 2015 and beyond, he said. Because of its acquisition of DNA Direct, Medco will get revenue from genetic tests, said Steven Schubitz, an analyst at Edward Jones & Co. in Des Peres, Missouri. Larger boosts will come from signing up employers for the genetic testing service, and from snaring more clients for its overall drug management business, Schubitz said in an interview.

“With the genetic testing service, Medco is really trying to differentiate itself. The genetic testing service will help them gain business and retain the business that they have. ”There are more than 50 companies in the genetic testing business, including lab equipment companies, according to the American Society of Human Genetics, based in Bethesda, Maryland. Further acquisitions of testing companies by pharmacy benefit managers aren’t expected, said Abrahams of the Personalized Medicine Coalition.

Spending Estimate - Genetic differences between people are one reason almost half of the $292 billion spent on prescription drugs in the U.S. in 2008 went to medications that didn’t help the patients, Jerel Davis, a project manager at the consulting firm McKinsey & Co.’s Palo Alto, California, office, said in November at a conference at Harvard Medical School in Boston. The figures are based partly on reviews of studies and interviews with doctors.

“When you look at the data, it’s shocking,” said Robert S. Epstein, a senior vice president and chief medical officer at Medco, which manages drug prescriptions for 60 million Americans, according to a regulatory filing. Drugs often simply don’t work because of a patient’s genetic makeup, said Peer M. Schatz, chief executive officer of Qiagen NV, a testing company based in Venlo, the Netherlands. “We are throwing chemicals at people that only have an efficacy of 30 to 50 percent,” Schatz said in an interview.

Test Market - The annual market for diagnostic tests and drugs tailored to individuals was expected to total to $24 billion last year, according to a report last October from New York-based PricewaterhouseCoopers LLP. The sum may grow 10 percent annually, reaching $42 billion by 2015, the consulting company said. The report didn’t estimate results for earlier years.

Medco has signed up more than 200 employers for its program, begun in May 2008, to use genetic tests to ensure that people get only the drugs that will benefit them, Epstein said. Those clients cover the health care of 7 million people. While Medco offers tests for just the two drugs -- the blood thinner warfarin and the breast cancer drug tamoxifen -- on which it expects the best results, the company aims to expand the program eventually to more medicines. The blood thinner Plavix, from Bristol-Myers, is among drugs for which tests may be added at Medco.

How It Works - Here’s how the testing works: As a pharmacy benefit manager, Medco sees all the prescriptions written for patients in its programs. When the company sees an order coming in for warfarin, a Medco employee calls the patient’s doctor and recommends genetic testing before the prescription is filled. Medco also phones the patient to explain the test. In Medco’s experience, 67 percent of doctors and 82 percent of patients agreed to testing for warfarin or tamoxifen, according to company figures. Medco reviewed “thousands” of cases, Epstein said. Once the doctor and patient agree, Medco mails out a genetic testing kit. The patients typically spits into a tube and sends it to a laboratory for DNA analysis. Then the dose of the prescribed drug is adjusted to reflect the test results.

International Business Machines Corp., the information technology company based in Armonk, New York, signed up last March to purchase Medco’s personalized-medicine services, Martin Sepulveda, an IBM vice president for health matters, said in an interview. ‘Extremely Useful’While IBM didn’t disclose the number of employees involved or the cost of the program, Sepulveda said the company had “several thousand” employees on warfarin and that information from the genetic test offered through the Medco program was “extremely useful” in helping doctors prescribe the right dose of the drug.

CVS, based in Woonsocket, Rhode Island, owns a majority interest in Generation Health, a provider of targeted-medicine services. CVS plans to roll out a genetic-testing program in May, Richard K. Schatzberg, CEO of Upper Saddle River, New Jersey-based Generation Health, said in an interview. Personalized medicine began with herceptin, a breast cancer drug from Genentech -- now a unit of Basel, Switzerland-based Roche AG -- that works only in patients whose tumors overproduce a protein called Her2/neu. In approving the drug in 1998, the U.S. Food and Drug Administration required the labeling information to say the drug should be used only in those patients.

FDA View - Now the agency requires genetic testing for six drugs, Abrahams said. The FDA also recommends testing before prescribing for more than two dozen medicines, and mentions diagnostic tests in the labels, the detailed information included with each medication, of more than 150 others. “Tailoring medicine, so that the right therapeutic is delivered to the right person, is likely to be one of the most important themes in health care,” FDA CommissionerMargaret Hamburg said in a Feb. 25 speech. In July, after reviewing evidence that Amgen Inc.’s Vectibix and Bristol-Myers’s Erbitux don’t work in the 40 percent of colon cancer patients with a mutation in the K-RAS gene, the FDA changed the drugs’ labels to discourage such people from taking them. Amgen, based in Thousand Oaks, California, backs the use of a test for K-RAS before patients take Vectibix, which costs $8,400 a month, said Ashleigh Koss, a company spokeswoman, in an e-mail. Bristol-Myers recommends that colon-cancer patients be tested for the K-RAS mutation before considering treatment options,Sarah Koenig, a company spokeswoman, said in an e-mail. K-RAS ProjectionQiagen projects that the market for K-RAS tests will climb to $100 million annually within five years, from $25 million to $30 million now. Using the $200 tests for all colon-cancer patients would save $604 million a year in drug costs in the U.S., according to a study by Veena Shankaran, a doctor at Northwestern University Feinberg School of Medicine, in Chicago.

Medco decided to explore personalized drug treatments in 2005, when an FDA advisory committee recommended that genetic information be considered in making treatment decisions with warfarin. It is difficult for doctors to get the dose of that drug right, Issam Zineh, associate director for genomics at the FDA’s Center for Drug Evaluation and Research, in Silver Spring, Maryland, said at a November briefing.People have different forms of the enzyme that changes warfarin so that it is excreted from the body. Some versions work slower. Too much warfarin raises chances of bleeding and strokes, while too little allows deadly clots to form.‘We Kill People’“We know that we kill people with warfarin all the time,” said Zineh, who has reviewed studies of the generic drug.

When Medco’s Epstein looked at the company’s medical records for its million patients on the drug, he discovered that a quarter of them ended up in the hospital within six months of starting on warfarin, he said.“Avoiding one hospitalization could underwrite the cost of the test for 100 patients,” Epstein said.

To contact the reporter on this story: John Carey in Washington atJcarey9@bloomberg.net

Accurate detection and genotyping of SNPs utilizing population sequencing data.

2010-03-15T10:03:00.001Z

Next generation sequencing technologies have made it possible to sequence targeted regions of the human genome in hundreds of individuals. Deep sequencing represents a powerful approach for the discovery of the complete spectrum of DNA sequence variants in functionally important genomic intervals. Current methods for SNP detection are designed to detect SNPs from single individual sequence datasets. Here we describe a novel method SNIP-Seq (Single Nucleotide polymorphism Identification from Population Sequence data) that leverages sequence data from a population of individuals to detect SNPs and assign genotypes to individuals. To evaluate our method, we utilized sequence data from a 200 kilobase region on chromosome 9p21 of the human genome. This region was sequenced in 48 individuals (5 sequenced in duplicate) using the Illumina GA platform. Using this dataset, we demonstrate that our method is highly accurate for detecting variants and can filter out false SNPs that are attributable to sequencing errors. The concordance of sequencing based genotype assignments between duplicate samples was 98.8%. The 200 kb region was independently sequenced to a high depth of coverage using two sequence pools containing the 48 individuals. Many of the novel SNPs identified by SNIP-Seq from the individual sequencing were validated by the pooled sequencing data and were subsequently confirmed by Sanger sequencing. We estimate that SNIP-Seq achieves a low false positive rate of ~2% improving upon the higher false positive rate for existing methods that do not utilize population sequence data. Collectively, these results suggest that analysis of population sequencing data is a powerful approach for the accurate detection of SNPs and the assignment of genotypes to individual samples.

from The Scripps Institute

MarketWatch: Sequencing Companies Dominate Investment

2010-03-12T10:00:00.001Z

$400 the approximate cost of genetic testing to predict a patient’s response to the commonly prescribed blood thinner warfarin.

MIT Technology Review, March/April 2010, by Lauren Gravitz – The market for personalized medicine is growing: according to PricewaterhouseCoopers, the core market will reach $42 billion by 2015. However, that growth is not uniform. Some areas, such as genomic sequencing, are surging ahead; others, such as translating genetic data into clinically useful information, languish.

In this environment, startups developing sequencing technologies, such as Pacific Biosciences, Illumina, and Complete Genomics, have attracted sustained investor interest as they race to create ever cheaper ways to decode DNA (see “Faster Tools to Scrutinize the Genome“). In their most recent rounds of venture funding last summer, Pacific Biosciences and Complete Genomics received $68 million and $45 million, respectively.

Diagnostic technologies, too, are moving at a rapid pace. Startups from Boston to Silicon Valley have been pinning down disease-related genetic markers and creating many new tests that are already in the clinic or on their way. As these companies grow and bring more tests to market, large diagnostics companies are likely to acquire them, says venture capitalist Brook Byers of Kleiner Perkins Caufield and Byers.

One of the biggest undeveloped areas in personalized medicine, however, is the information technology needed to analyze and store the huge quantity of genetic data that is starting to pour forth (see “Drowning in Data“). Of the few bioinformatics companies working to digest the data, Proventys, based in Newton, MA, is among the furthest along. Its technology combines biomarkers and other information to make risk predictions about diseases.

Meanwhile, pharmaceutical companies are responding to the nascent market for personalized therapeutics in different ways. Pfizer, for example, is collaborating with existing biotech companies to develop drugs and diagnostics based on genetic testing. AstraZeneca recently announced a partnership with the Danish diagnostics company Dako, the first of many alliances it plans in a strategy for bringing genetic tests to market. Novartis is taking a different tack, dedicating a large portion of its own resources to developing personalized medicine.

In the United States, benefit management companies, which act as middlemen between patients and insurers or employers, are aggressively moving into the market. One of the largest, Medco, has established a personalized-medicine group to recommend which genetic tests insurers should pay for. In February it acquired DNA Direct, a firm that specializes in analyzing genetic diagnostics, to aid in this effort. One of its largest competitors, CVS Caremark, increased its stake in a similar company, Generation Health, last December. Because such companies serve millions of people, they will play a critical role in making genetic tests broadly available and educating doctors about the benefits of offering such tests to their patients.

A machine for DNA sequencing was invented by Leroy Hood and his colleagues at Caltech. In 1992, Hood and several others were granted U.S. patent 5,171,534 for an “Automated DNA Sequencing Technique.” Replacing slow and expensive manual methods, this is one of the most important pieces of intellectual property in biotechnology; explore this interactive analysis by IPVision of the patent’s impact on the innovation landscape.http://www.technologyreview.com/biomedicine/24593/page2/

Biotech & Genetics Industry Market Research, Statistics, Trends & Leading Companies

2010-03-10T09:58:00.001Z

Plunkett’s Biotech and Genetics Industry Almanac 2009

Plunkett’s Biotech & Genetics Industry Almanac is a complete reference guide to the business side of biotechnology, genetics, proteomics and related services. This new book contains complete profiles of the leading biotech companies, in-depth chapters on trends in genetics, technologies, statistics and finances, a handy glossary and thorough indexes. Plunkett’s Biotech & Genetics Industry Almanac, our easy-to-understand reference to the biotech and genetics industry, is an absolutely vital addition to your office. For the first time, in one carefully-researched volume, you’ll get all of the data you need. Topics include: A Short History of Biotechnology; The State of the Biotechnology Industry Today; Biotechnology funding and investments; Patents; Biotech activities in Singapore and China; FDA; Gene Therapies; Personalized Medicine; Systems Biology; Drug Development; Clinical Trials; Controversy over Drug Prices; Stem Cells Research; Therapeutic Cloning; Regenerative Medicine Nanotechnology; Agricultural Biotechnology; Drug Delivery Systems; BioShield; Ethical Issues. The book also includes complete profiles on over 400 Biotech & Genetics companies, our own unique list of companies that are the leaders in biotechnology. These are the largest, most successful corporations in all facets of this exploding business. All of the corporate profile information is indexed and cross-indexed, including contact names, addresses, Internet addresses, fax numbers, toll-free numbers, plus growth and hiring plans, finances, research, marketing, technology, acquisitions and much more for each firm. Purchasers of either the book or PDF version can request a free copy of the company profiles database on CD-ROM, enabling export of contact names, addresses and more.

from

BiotechConnection.com

Cheap DNA sequencing will drive a revolution in health care

2010-03-04T09:56:00.001Z

The dream of personalized medicine was one of the driving forces behind the 13-year, $3 billion Human Genome Project. Researchers hoped that once the genetic blueprint was revealed, they could create DNA tests to gauge individuals' risk for conditions like diabetes and cancer, allowing for targeted screening or preëmptive intervention. Genetic information would help doctors select the right drugs to treat disease in a given patient. Such advances would dramatically improve medicine and simultaneously lower costs by eliminating pointless treatments and reducing adverse drug reactions.

Delivering on these promises has been an uphill struggle. Some diseases, like Huntington's, are caused by mutations in a single gene. But for the most part, when our risk of developing a given condition depends on multiple genes, identifying them is difficult. Even when the genes linked to a condition are identified, using that knowledge to select treatments has proved tough (see "Drowning in Data"). We now have the 1.0 version of personalized medicine, in which relatively simple genetic tests can provide information on whether one patient will benefit from a certain cancer drug or how big a dose of blood thinner another should receive. But there are signs that personalized medicine will soon get more sophisticated. Ever cheaper genetic sequencing means that researchers are getting more and more genomic information, from which they can tease out subtle genetic variations that explain why two otherwise similar people can have very different medical destinies. Within the next few years, it will become cheaper to have your genome sequenced than to get an MRI (see "A Moore's Law for Genetics"). Figuring out how to use that information to improve your medical care is personalized medicine's next great challenge.

Pharmacogenomics: Personalized Medicine at the Corner Drugstore

2010-03-01T09:54:00.001Z

MayoClinic.com, GoogleNews.com, February 24, 2010, by Carrie A. Zabel – Personalized medicine offered at your local drugstore?

Two large prescription drug companies have announced plans to offer genetic testing as part of the prescription-filling process. The testing will center on an emerging science, pharmacogenomics, which studies drug response based upon an individual’s genetic make-up. Pharmacogenomic testing is already used for some commonly prescribed drugs such as Tamoxifen and Warfarin.

The process would use a pharmacy benefits management company that would contract with large drugstore chains. When certain prescriptions come in, the company would contact the physician to let them know a genetic test is available, which may help them to more appropriately prescribe that medication. The individual may then be offered the genetic testing, but it wouldn’t be required.

Supporters say this will improve patient safety, health outcomes and decrease overall health care costs by using the right medications in the right patients. It may also provide an opportunity to advance the field of pharmacogenomics by collecting data on genetic testing results and drug effectiveness.

Others are concerned about the privacy of genetic testing information and say the science of pharmacogenomics is premature. Drug metabolism isn’t only based on our genetic make-up, but is affected by many additional factors, such as body size and age. And, since pharmacogenomics is a relatively new science, insurance companies may not reimburse for the cost of genetic testing.

Carrie A. Zabel, M.S., C.G.C., Genetic Counselor

Can a Genomics Platform Model Work in Diagnostics?

2010-02-27T09:53:00.001Z

Start-Up -- deCODE Genetics has emerged from bankruptcy with a streamlined, diagnostics-oriented business model. In the near term, the privately held firm expects to offer its genomics discovery capabilities on a service basis, echoing the original genomics platform specialists of the late 1990s, including deCODE itself, which did largely unsuccessful technology deals focused on using genetic insight to generate therapies. The difference? It is now using genetic information to assess disease risk and better manage patient health, a strategy it thinks will succeed as the field of personalized medicine diagnostics continues to gain traction.

By Mark L. Ratner

Elsevier Business Intellingence

Identification of bipolar risk gene

2010-02-16T05:53:00.001Z

A collaboration, led by scientists at the Garvan Institute of Medical Research and the University of New South Wales (UNSW) in Sydney, has discovered the first risk gene specifically for bipolar disorder, also known as manic-depressive illness. This means that people who have a particular form of this gene are twice as likely to develop the disease.

Lead author, Dr Ian Blair, says: “We are the first group in the world to take a multi-faceted approach to identify a bipolar risk gene - we used a number of families, unrelated patients, and therapeutic drug mouse models. Each of these three lines of investigation led us to a gene called FAT.”

Contributing author Professor Phil Mitchell, Head of Psychiatry at UNSW, says: “Over the last twenty years we have collected blood samples from 67 families right across Australia. This amounts to hundreds of family members (904), some of whom are spread across four generations. This was a strong starting point in our hunt for a Bipolar gene.”

"We know that the FAT gene codes for a protein that is involved in connecting brain cells together, what we need to do now is find out exactly how it contributes to the increased risk of bipolar disorder,” explains Dr Blair.

While other scientists have found genes associated with Bipolar, most of them haven’t stood up to scrutiny. The Sydney discovery has been verified in four independent study groups: two in the UK, one in Australia, and one in Bulgaria.

Bipolar disorder is a major psychiatric illness affecting around two people in every 100. Tragically, around one in six people suffering from the condition will commit suicide.

Mood-stabilising medications are typically prescribed to help control bipolar disorder. Lithium was the first mood-stabilising medication approved by the U.S. Food and Drug Administration (FDA) for treatment of mania. For decades it has been widely prescribed for the treatment bipolar disorder, yet no one knows for sure why it works.

“Lithium has a number of severe side effects that include tremor and weight gain. Kidney dysfunction may develop in a small proportion of patients when it is administered for long periods of time,” says Professor Mitchell.

This new research has raised the possibility that lithium exerts its therapeutic affect by altering FAT gene expression, as well as the expression of genes encoding FAT’s protein partners.

“Once we understand exactly what the FAT gene does, we will be able to develop better diagnostic tests for bipolar disorder. In the future, we hope our research will lead to new, targeted medicines specifically for bipolar disorder that don’t have the unpleasant side effects that lithium has,” says Dr Blair.

http://www.unsw.edu.au/

First Illumina HiSeq Machines Advertised

2010-02-15T15:15:00.000Z

News: the Illumina HiSeq can produce 200 gigabases (Gb) of sequence data and 2 billion reads per run. When it was launched we knew that BGI in China had signed an agreement to buy 128 of these machines but no-one has fessed up to owning one just yet.

Things might have changed today.

Two updates to the map of high-throughput sequencers, one hot on the heels of the other are both advertising HiSeq capability in Europe. GATC and DNAvision, both service companies have updated the map to say they have a HiSeq machine ready and waiting to service customers. Their corporate websites are a bit less clear on whether it has actually arrived yet, indicating probably that the HiSeq has just been ordered.

Medco Acquires DNA Direct: A Great Step for Personalized Medicine

2010-02-12T04:44:00.001Z

Combined capabilities will deliver precision health services designed to improve

clinical and financial outcomes

FRANKLIN LAKES, N.J. and SAN FRANCISCO, Feb. 2, 2010 –– Committed to being at the forefront

of translating personalized medicine from the science to its daily practice in healthcare, Medco Health

Solutions, Inc (NYSE:MHS) today announced the acquisition of DNA Direct, Inc., a leader in providing

guidance and decision support for genomic medicine to patients, providers, payors and employees.

Financial details of the acquisition were not released.

“DNA Direct has been a recognized pioneer in assimilating knowledge about molecular diagnostic testing

and deploying certified genetics professionals to help rationalize the opportunities and implications faced

by many in this new and rapidly evolving field,” said David B. Snow Jr., Medco chairman and chief

executive officer.

By integrating DNA Direct’s physician, client and patient support services and capabilities with Medco’s

growing portfolio of personalized medicine capabilities and extensive customer base, Medco intends to

deliver a broader suite of precision health services, ranging from consumer education to clinical decision

support.

“Medco is simply the most innovative and forward thinking healthcare company in the industry today,”

said Ryan Phelan, DNA Direct founder and CEO. “Having spent the past 25 years as an entrepreneur

translating healthcare information to patients, I can’t think of a better partner to take personalized

medicine to the next level.”

DNA Direct is the first genomics-focused company offering URAC-accredited utilization management

programs to help payors ensure the appropriate use of the more than 2,000 genetic and molecular tests

available today. URAC is a Washington D.C.-based health care accrediting organization that establishes

quality standards for the health care industry. DNA Direct’s national call center of genetic experts,

complemented by online decision support services help physicians and patients determine if genetic tests

are appropriate and how to use genetic test results to guide clinical decisions. Medco’s existing

personalized medicine approach encompasses a robust pipeline of important pharmacogenetic research,

turnkey testing programs for drugs like tamoxifen and warfarin, and warnings on over 50 drug-gene

interactions, which are used by Medco's specialist pharmacists to inform physicians and patients about

potential therapy adjustments to ensure the safety and efficacy of the treatment.

“When a Fortune 50 company like Medco makes a commitment to personalized medicine with an

acquisition like this, it’s proof positive that we are at a turning point in the healthcare industry,” said

Sharon Terry, president and chief executive officer of Genetic Alliance. “Integrating Medco’s

phenomenal capacity to respond to its members, with the innovative and creative patient-focused services

of DNA Direct is a win for all consumers.”

The DNA Direct purchase builds upon Medco’s commitment to advancing pharmacogenomics (PGx), a

cornerstone of which is the company’s Personalized Medicine Research Center. The research center is

dedicated to furthering the understanding of the impact of genetics on patient medication response and

applying that science to clinical practice. As knowledge is gained through the research, applications will

be rolled out to the broader client base within Medco’s precision health services.

“By integrating proven state-of-the-art science into every day care, we are providing patients and

providers with actionable information that drives more personalized care to achieve higher efficacy or

improved safety,” said Dr. Robert Epstein, Medco’s chief medical officer. “We have already started this

today with our existing Personalized Medicine programs. DNA Direct will serve to accelerate our speedto-

market implementation capabilities, transforming research into actionable services to meet the

demands of our clients and patients.”

About Medco

Medco Health Solutions, Inc. (NYSE: MHS) is pioneering the world’s most advanced pharmacy® and its

clinical research and innovations are part of Medco making medicine smarter™ for more than 60 million

members.

With more than 20,000 employees dedicated to improving patient health and reducing costs for a wide

range of public and private sector clients, and 2008 revenue exceeding $51 billion, Medco ranks 45th on

the Fortune 500 list and is named among the world’s most innovative, most admired and most trustworthy

companies.

For more information, go to http://www.medcohealth.com.

About DNA Direct

DNA Direct was founded in 2005 to deliver guidance and decision support for genomic medicine to

patients, providers and payers -- reducing health risks, preventing disease, and better targeting therapies.

The first genomics-focused company to receive full URAC accreditation for utilization management in

the U.S, DNA Direct’s comprehensive clinical programs combine proprietary technology with genetic

expertise including a national call center of genetic experts, web-based applications, and educational

resources and training. The company is based in San Francisco and was backed by Firefly Investments

and Lemhi Ventures. For more information, visit www.dnadirect.com.

The Top Science Progress Features of 2009

2010-02-08T04:42:00.001Z

In 2009, we saw a renewed engagement with ethical questions about how we regulate biotechnology, watched the conservative war on science continue on new fronts, and witnessed renewed commitments to grow U.S. prosperity with investments in science and technology.

Timeline: A Brief History of Stem Cell Research

One of our most popular features ever, this interactive timeline marked key moments, beginning the in the 1970s, from the interrelated stories of human embryonic stem cell research and the policy governing that work. The piece collects research featured in the Center for American Progress report, “A Life Sciences Crucible: Stem Cell Research and Innovation Done Responsibly and Ethically.” The Obama administration’s final stem cell policy closely resembledthe one recommended in the paper.

Dude, Where’s My War on Science?

By Chris Mooney

Conservatives tried to expose what they claim was a case of science suppression by the Obama administration—and in the process demonstrated how little they know about science in the first place. The attack on EPA’s policy process, Mooney explained, fails peer review.

The George Will Scandal

By Chris Mooney

When The Washington Post ran a column by Will rife with errors on climate science, Mooney asked: If a major media outlet can’t even correct facts about global warming, is it still socially relevant?

What Does This Generation Think it Means to be a “Scientist”?

By Chris Mooney

Many students don’t see a life of academic specialization as the best way to employ their scientific talents. They want to do something more to bring science to the rest of America. Changing definitions could entail a changing relationship between science and society, wrote Mooney.

How the Global Warming Story Changed—Disastrously

By Chris Mooney

Skeptics didn’t need good science to make another attack on climate change research. Their strength has always been in communication tactics anyway, and not scientific exactitude or rigor, wrote Mooney, examining the fallout from the “ClimateGate” scandal. And the U.S. public, never overwhelmingly sure about climate change, has long been susceptible to their smokescreens and misinformation campaigns.

Throwing the Baby Out With the Amniotic Fluid

By Michelle N. Meyer

One important distinction that is not made often or clearly enough by either ethicists or lawyers is that between decisions to procreate and decisions not to procreate. Witness, for instance, the reaction to Nadya OctoMom™ Suleman.

Hold Off On Holdren (Again)

By Chris Mooney

Conservatives found another ludicrous charge to hurl against the president’s science adviser. It was just the latest attempt to distract from actual science policy.

Autonomous Contraception

By Lisa Campo-Engelstein

A recent discovery, wrote Campo-Engelstein, might open the door to an effective male contraceptive drug, a technology that could have been developed decades ago, were it not for social factors that enable women but not men to effectively regulate their fertility outside of sexual activity and without their partner’s participation or knowledge.

Regional Centers of Innovation 101

Regional centers such as Silicon Valley and Boston cultivate technology-based economic development through a dynamic mix of researchers, entrepreneurs, investors, and infrastructure. Drawing lessons from their success can help revitalize the U.S. economy. This feature marked the beginning of our ongoing project developing policies that support innovation clusters around the country.

(Source: Science Progress)

Paving the Way for Personalized Medicine

2010-02-05T04:40:00.001Z

On Thursday, the Secretary’s Advisory Committee for Genetics, Health, and Society at the Department of Health and Human Services will meet to discuss a set of reports on the future of genomic medicine. The meeting will cover a range of important issues such as the impact of affordable whole-genome sequencing; comparative effectiveness research; genetics education for healthcare providers, patients, and public health workers; and the sharing of genomic data across multiple sectors including research, industry, and healthcare services.

SACGHS has formed a task force to address the clinical utility of genetic testing—that is,.the usefulness of genetic tests for helping doctors choose more effective interventions for their patients. Assessing clinical utility is an important component of both personalized medicine and comparative effectiveness research, which analyzes interventions head-to-head to see which work better for different patients. The goal is to improve comparative effectiveness research by incorporating genetic tests, which would allow physicians to tailor treatments to individual patients based on their own DNA.

The Personalized Medicine Coalition held a conference last fall to promote the alignment of comparative effectiveness research with personalized medicine. This alignment is also a crucial aspect of the recommendations issued by the Institute of Medicine, which promoted research on both “diseases and conditions with the greatest aggregate effect on the health of the U.S. population, but also less common conditions that severely affect individuals invulnerable subgroups of the population.”

The Center for American Progress has also recognized the importance of ensuring that CER can “accelerate the discovery of approaches to individualized medicine and help providers cater to the specific needs of patients.” This will move medicine beyond the “one size fits all” therapies that result from the research provided by pharmaceutical companies to the FDA. SACGHS is taking an important step forward by identifying ways to assess the clinical utility of genetic tests. This was one of several recommendations CAP has made not just for advancing personalized medicine but also for improving the quality of genetic testing in the report, “Genetic Information Non-Discrimination.”

Genetics education and training will also be a major part of the SACGHS meeting agenda. The task force outlined its action plan in July of 2008 and has since set out to identify the needs of healthcare providers, the public health workforce, and the general public for genetic education. The task force also identified various types of case studies that it will use to analyze the current information gaps in genetic testing. This will require exploring the best way to gather and disseminate information about pharmacogenomic testing, newborn screening, diagnosis of single gene disorders, direct-to-consumer testing, and population genetics. The task force plans to release their report in the coming months. This is an important step, as the public must be “informed and educated about personalized medicine through outreach efforts, opportunities for public comment or input, and most importantly through transparency.”

Data sharing is also a major component of the agenda. Representatives from government, academia, health care systems, industry, and consumer groups will present different models for sharing genomic information. This will be followed by a discussion of health information technologies that aim to efficiently connect the data among these multiple sectors. In “Paving the Way for Personalized Medicine,” my co-author and I addressed both the positive developments as well as the missed opportunities on this front. In particular, we noted that HHS’s Health IT Standards Committee has not properly collaborated with outside networks that are working to devise consistent nomenclature so that genomic data can be utilized through health IT. We recommended this kind of collaboration so that HHS can leverage the expert resources available for combining cutting-edge genomic science with health IT.

The face of medicine is changing at a breakneck pace and a forum like the SACGHS meeting allows scientists, policymakers, innovators, service providers, and patients to work together to ensure that this new era of medical innovation serves the common good by being safe, effective, efficient, and equitable.

A gene test that predicts the risk of a stroke

2010-02-02T20:53:00.002Z

Adults at risk of either prostate cancer or an erratic heart beat that can lead to strokes can now be identified early by genetic testing. About one in 20 elderly people suffer from atrial fibrillation, a condition in which turbulent blood flow raises the risk of blood clots, which can then lodge in the brain and cause a stroke.

Now an Icelandic company, deCODE, has announced in the journal Nature that it has found a variation in the human DNA sequence which raises the risk of atrial fibrillation, and used it as the basis of a test which will make it possible to identify those who will benefit the most from treatment. The firm's researchers found two "spelling mistakes" or single-letter variations in the human genetic code which increase the risk of atrial fibrillation by about 70 per cent and 40 per cent, doubling that risk if two copies of the variants are carried.

Because of the link with stroke, the company believes testing for these variants will provide doctors with a cost-effective means of identifying those who should be intensively monitored and reduce their risk by taking anticoagulant drugs. Passing abnormalities in heart rhythm are difficult to detect in many patients and it is impractical and too costly to conduct extended cardiac monitoring, even in patients who have had a stroke. The "spelling mistakes" in DNA linked with the risk were found through analysis of more than more than 300,000 common single-letter DNA changes in more than 5,000 Icelanders and were replicated in a further worldwide study of 18,000 subjects.

Association between Type 2 Diabetes Loci and Measures of Fatness

2010-01-16T14:23:00.001Z

Type 2 diabetes (T2D) is a metabolic disorder characterized by disturbances of carbohydrate, fat and protein metabolism and insulin resistance.

The majority of T2D patients are obese and obesity by itself may be a cause of insulin resistance. Our aim was to evaluate whether the recently identified T2D risk alleles are associated with human measures of fatness as characterized with Dual Energy X-ray Absorptiometry (DEXA).

Nine single nucleotide polymorphisms (SNPs) in the CDKN2AB, CDKAL1, FTO, HHEX, IGF2BP2,KCNJ11, PPARG, SLC30A8 and TCF7L2 genes were genotyped.

Linear regression was used to study association between individual SNPs and the combined allelic risk score with body mass index (BMI), fat mass index (FMI), fat percentage (FAT), waist circumference (WC) and waist to hip ratio (WHR).

Significant association was observed between rs8050136 (FTO) and BMI (p = 0.003), FMI (p = 0.007) and WC (p = 0.03); fat percentage was borderline significant (p = 0.053). No other SNPs alone or combined in a risk score demonstrated significant association to the measures of fatness.

From the recently identified T2D risk variants only the risk variant of theFTO gene (rs8050136) showed statistically significant association with BMI, FMI, and WC.

Investigation of TNFA 308G > A and TNFB 252G > A polymorphisms in genetic susceptibility to migraine.

2010-01-15T22:37:00.002Z

J Neurol. 2009 Dec 25; Ghosh J, Joshi G, Pradhan S, Mittal B look for the association of tumor necrosis factor (TNF) gene polymorphisms (TNFA 308G > A, and TNFB 252G > A) in genetic susceptibility to migraine. The pathogenesis of migraine involves many immune-mediated mechanisms in the vascular endothelium. TNF, being a potent immunomodulator and pro-inflammatory cytokine, is suggested to be involved in inflammatory reactions leading to migraine attacks. A total of 216 normotensive migraine patients, 160 tension type headache (TTH) patients and 216 healthy controls (HC) were recruited in the study. The genetic polymorphisms were investigated through SNP association analysis using a matched case control migraine population. Genotyping of TNFA 308G > A polymorphism and TNFB 252G > A was done using ARMS PCR and PCR-RFLP, respectively. A borderline association was observed in TNFA 308GA genotype in migraine patients versus HC (p = 0.043; OR = 1.763; 95% CI = 1.019-3.051). After sub-grouping migraine into migraine with aura (MA) or without aura, significant difference at genotypic (p = 0.015; OR = 2.293; 95% CI = 1.172-4.487) as well as allelic (p = 0.035; OR = 1.955; 95% CI = 1.047-3.651) level was evident. The difference was even more significant in female MA at genotypic (p = 0.006; OR = 2.901; 95% CI = 1.361-6.181) and allelic level (p = 0.017; OR = 2.318; 95% CI = 1.159-4.635) as well as for A allele carriers in MA [p value = 0.020; OR = 2.205 (1.132-4.295)] and female MA (p value = 0.008; OR = 2.741; CI = 1.297-5.792). No association of TNFB252G > A was observed in migraine patients or any subgroups. We did not find any association of TNFA or TNFB gene polymorphisms with TTH. In conclusion, the TNFA 308G > A polymorphism was found to be associated with MA, particularly in females, whereas we could not find any association of TNFB 252G > A polymorphism in genetic susceptibility to migraine on comparing the migraine patients with HC or TTH patients.

Toward reading your own personal 'Book of Life'

2010-01-13T14:18:00.001Z

What secrets about your risk for diseases are written in your own personal "Book of Life" - the 30,000 or so genes that make you you?

Advances in DNA-sequencing technology are bringing closer the day when it will be more economical for consumers to get an answer to that question, and others, by ordering up the deciphering of their entire genetic endowment - their "personal genome." With their Book of Life in hand, consumers and their physicians could map out strategies for the prevention, early diagnosis, and more effective treatment of diseases ranging from cancer to rare-genetic disorders.

C&EN Senior Editor Celia Henry Arnaud notes that the first human genome sequence cost more than $2 billion and took about a decade to complete. Technological advances now have cut the time to as little as one week, and some companies are charging individuals $48,000 for the service, a cost that experts expect to drop sharply in the coming years, the article notes.

But the technology also raises important ethical and legal issues, including the possibility of discrimination on the basis of genetic information in the areas of employment and insurance coverage. Many believe that personal genomes are inevitable. "In the future, sequencing will be so cheap and so easy to access that everybody could get sequenced if they want. It'll be iPod pricing," says the CEO of a company that specializes in direct-to-consumer genome sequencing.

Genomes of identical twins reveal epigenetic changes that may play role in lupus

2010-01-10T14:00:00.001Z

Identical twins look the same and are nearly genetically identical, but environmental factors and the resulting cellular changes could cause disease in one sibling and not the other.

In a study published online in Genome Research (www.genome.org), scientists have studied twins discordant for the autoimmune disease lupus, mapping DNA modifications across the genome and shedding light on epigenetic changes that may play a role in the disease.Because the genetic makeup of monozygotic twins (commonly known as identical twins) is nearly identical, phenotypic traits and heritable diseases are often concordant, manifesting in both siblings.

However, some phenotypes and diseases such as autoimmune disease can arise in only one sibling, suggesting other factors such as environment likely play a role in determining phenotypic differences.Epigenetic modifications, cellular changes that can influence expression of genes, are now widely recognized to influence phenotype and frequently occur in disease. Furthermore, environmental factors such as diet and chemical exposure can change the epigenetic status of genes.

Recent research has identified epigenetic modifications at several aberrantly regulated genes in autoimmune diseases such as systemic lupus erythematosus (SLE), and other studies have suggested that epigenetic differences are associated with phenotypic discordance between identical twins. In this work, researchers from Spain and the United States performed the first genome-wide high-throughput analysis of a specific epigenetic modification, DNA methylation, in the context of autoimmune disease. Taking advantage of the identical genetic background in monozygotic twins, the group directly compared DNA methylation in healthy twins and twins discordant for autoimmune diseases, including SLE, looking for changes that could be related to pathogenesis in one sibling and not the other.n the case of SLE, the group found widespread changes in DNA methylation status at a significant number of genes.

Dr. Esteban Ballestar, senior author of the study, noted that this is the largest number of genes exhibiting DNA methylation changes observed in an autoimmune disease to date, and includes genes previously implicated in SLE pathogenesis. Importantly, Ballestar's team found that a significant number of the novel differentially methylated genes are related to multiple immune system functions and are potentially linked to SLE."Our study suggests that the effect of the environment or differences in lifestyle may leave a molecular mark in key genes for immune function that contributes to the differential onset of the disease in twins," Ballestar said. Most studies of DNA methylation and human disease have been in the context of cancer research, Ballestar noted, and he hopes that this work will attract more researchers to also investigate DNA methylation alterations in autoimmune disease and other disorders for the development of therapies.

Lupus is a chronic inflammatory disease that can affect various parts of the body, especially the skin, joints, blood, and kidneys.

Genetics Times: New research could advance research field critical to personalized medicine

2010-01-06T13:55:00.001Z

It's the ultimate goal in the treatment of cancer: tailoring a person's therapy based on his or her genetic makeup.

While a lofty goal, scientists are steadily moving forward, rapidly exploiting new technologies. Researchers at Georgetown Lombardi Comprehensive Cancer Center report a significant advance in this field of research using a new chip that looks for hundreds of mutations in dozen of genes.

The goal of personalized medicine is to determine the best treatment and the optimal dose carrying the fewest side-effect, especially as new drugs are discovered and treatment options increase. Variations in our genes encode proteins, which impact how a drug is metabolized or taken in by the cells. This directly impacts the drug's effectiveness and the kinds of side-effects that may be caused by its toxicity.

"Currently, available genotyping tools test only a few genes at a time," explains John F. Deeken, a pharmacogentic researcher at Lombardi. "With a new chip called DMET, as many as 170 genes can be examined for more than a thousand variations. This type of turn-key testing, if validated, could eventually replace highly-specialized, time-consuming and labor-intensive testing -- thus allowing more institutes the opportunity to pursue genotyping and pharmocogenetic research. That alone would be a significant development for our field and for expediting the research many of us believe is the future of medicine."

Such a development is particularly critical for cancer research, both in terms of drug discovery and treatment. Genetic variability among patients in cancer clinical trials is not commonly taken into account, a factor that could skew dosage amounts and doom an otherwise promising new drug. A more simple and faster test could be readily incorporated into treatment trials.

Deeken serves as a consultant to Sanofi-Aventis, the manufacturer of docetaxel, a drug involved in the current reported study. Three other authors are employees of Affymetrix, the manufacturer of the DMET platform. The study was done in part at the National Cancer Institute and supported by funding from the National Institutes of Health.

Institute for Personalized Medicine

2010-01-03T13:49:00.001Z

Personalized Therapy for Each Patient

Fox Chase's new Institute for Personalized Medicine is on the forefront of a transformation in cancer care. Unlike the traditional method of delivering care, this approach will base treatment on the genetic makeup of an individual patient's tumor, making the "one-size-fits-all" approach to cancer therapy a thing of the past. Through the Institute for Personalized Medicine, our doctors and researchers are using leading edge technology to expand the understanding of cancer genetics, develop clinical trials of new treatments, and match emerging drug treatments to the unique genetics of individual patient tumors.

The immediate objective of the Institute for Personalized Medicine is to sequence exons from genes known to impact key, targetable, signaling pathways in patients with metastatic disease.

Customized Oncology

"Personalized medicine is truly transformational," says Jeff Boyd, senior vice president and chief scientific officer. "It's impossible to overstate this inflection point that cancer medicine is entering. The whole premise of how cancers are treated becomes not the tissue of origin, or how it looks under a microscope, how it looks to the surgeon, how it looks to the pathologist, but how it looks to the DNA sequencer," Boyd says.

The Institute for Personalized Medicine will build on Fox Chase's already substantialBiosample Repository and Tumor Bank to add an additional layer of new knowledge about the genetic information in individual patient tumors. Fox Chase will also use this information to accelerate the development of new cancer treatments through collaboration with its highly regarded Phase 1 Clinical Trials Program, which tests a broad spectrum of novel cancer therapeutics in patients with advanced cancer.

Vision

Our vision is one in which at the time of diagnosis and again at disease progression, a patient's cancer will be sequenced either for selected genes of interest or the entire genome. The resultant information will be housed in a searchable database, thereby allowing patients to be matched to particular drugs based upon mechanism of action, regardless of the phase of clinical trial. Updated eligibility criteria will no longer state the requirement for a given disease but instead will articulate a far more sophisticated paradigm focusing on pathway activation, gene amplification, gene mutation, or combinations thereof.

Homosexuality and genetics

2010-01-01T13:27:00.002Z

Study shows male homosexuality can be explained through a specific model of Darwinian evolution.

Reporting in PLoS ONE, an Italian research team, consisting of Andrea Camperio Ciani and Giovanni Zanzotto at the University of Padova and Paolo Cermelli at the University of Torino, found that the evolutionary origin and maintenance of male homosexuality in human populations could be explained by a model based around the idea of sexually antagonistic selection, in which genetic factors spread in the population by giving a reproductive advantage to one sex while disadvantaging the other.

Male homosexuality is thought to be influenced by psycho-social factors, as well as having a genetic component. This is suggested by the high concordance of sexual orientation in identical twins and the fact that homosexuality is more common in males belonging to the maternal line of male homosexuals.

These effects have not been shown for female homosexuality, indicating that these two phenomena may have very different origins and dynamics.

Only the model of sexually antagonistic selection involving at least two genes – at least one of which must be on the X chromosome (inherited in males only through their mother) – accounted for all the known data. The results of this model show the interaction of male homosexuality with increased female fecundity within human populations, in a complex dynamic, resulting in the maintenance of male homosexuality at stable and relatively low frequencies, and highlighting the effects of heredity through the maternal line.

These findings provide new insights into male homosexuality in humans. In particular, they promote a focus shift in which homosexuality should not be viewed as a detrimental trait (due to the reduced male fecundity it entails), but, rather, should be considered within the wider evolutionary framework of a characteristic with gender-specific benefits, and which promotes female fecundity. This may well be the evolutionary origin of this genetic trait in human beings.

The possible widespread occurrence of sexually antagonistic characteristics in evolutionary processes, which play their evolutionary game by giving a fecundity benefit to one sex while disadvantaging the other, has only recently begun to be appreciated. Male homosexuality is just the first example of an unknown number of sexually antagonistic traits, which contribute to the maintenance of the natural genetic variability of humans.

An unexpected implication of the new models concerns the impact that the sexually antagonistic genetic factors for male homosexuality have on the overall fecundity of a population. The findings suggest that the proportion of male homosexuals may signal a corresponding proportion of females with higher fecundity. Consequently, these factors always contribute, all else being equal, a positive net increase of the fecundity of the whole population, when compared to populations in which such factors are lower or absent. This increase grows as the population baseline fecundity decreases; this means that the genes influencing male homosexuality end up playing the role of a buffer effect on any external factors lowering the overall fecundity of the whole population.

Source: Public Library of Science

Structural variation in the human genome.

2009-12-10T10:15:00.000Z

Nat Rev Genet. 2006 Feb;7(2):85-97.

Feuk L, Carson AR, Scherer SW.

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.

The first wave of information from the analysis of the human genome revealed SNPs to be the main source of genetic and phenotypic human variation. However, the advent of genome-scanning technologies has now uncovered an unexpectedly large extent of what we term ’structural variation’ in the human genome. This comprises microscopic and, more commonly, submicroscopic variants, which include deletions, duplications and large-scale copy-number variants – collectively termed copy-number variants or copy-number polymorphisms – as well as insertions, inversions and translocations. Rapidly accumulating evidence indicates that structural variants can comprise millions of nucleotides of heterogeneity within every genome, and are likely to make an important contribution to human diversity and disease susceptibility

Overweight and Obesity

2009-12-07T10:08:00.004Z

Obesity definition is very straightforward. Obesity is simply defined as being overweight. It signifies that excessive amounts of fat are collected in your body, which leads to the overmuch body weight. An individual’s weight must be in balance with his or her height, which entails within the body mass index (BMI). The ideal BMI goes between 18.5 to 24.9. So, in clinical terms Body mass index of 30 and above is defined as obesity.Obesity has bad effects on the general health and lifestyle of a person. People who are obese become very inactive as they realize it hard to take part in great number of everyday activities. They cannot move easily, they are all the time exhausted and they are put in risk of becoming sick with diverse kinds of illnesses ranging from cardiovascular, cancer, diabetes, and lots of others.

What are the causes of obesity. As already stated that most common reasons for obesity can be inactive lifestyle, high intake of calories and even scientific reasons (like psychiatric, medical and genetic causes). As mentioned above, a inert and unmoving lifestyle is the first on the list of causes of obesity. An individual finds it troublesome to exercise or go in for some sport, which step by step has negative influence on his weight making him obese.Genetics or heredity is another cause of obesity. It has been found out that the gene for Obesity has been circulated from generation to generation. Thus, the children whose parents are obese show a tendency to be obese.

People who are afflicted with genetic factors for obesity have many problems with losing weight in the long term. What is more, obesity may appear because of some psychological problems. It signifies that people show a tendency of overeating themselves when they are hopeless, upset, enraged, even weary with something that, consequently, leads to obesity. As well, several diseases and conditions like Cushing’s syndrome, Hypothyroidism, Depression, and certain neurological problems cause gluttony which successively causes storing of too much fat in the body.

But, the most general reason why people overeat is that they lack time to eat healthy food as they are overcharged with many responsibilities. Wild schedules have given to the use of fast and processed food, which, on one hand, don’t have enough vitamins and minerals and, on the other, has a high amount of calories.

So, how may a person eliminate obesity? Obese people think that they will be fat till the end of their life and that they will never slim down. Of course this is nonsense, and there is a solution. You may easily cure obesity on condition that provided that you are well organized, have a strong will, and on condition that you comply with the regulations that you must follow before you decide to begin with a diet. It is most important to recognize the problem and then go to your doctor who will will best advise what to do considering your obesity issue.

Fortunately, there are great numbers of weight loss plans today, which show outstanding results. Or you may even select some other methods that fit your needs, among which some may be very extreme like obesity surgical process or ingestion of anti-obesity drugs. Very recently, genetic analysis is proving to have some very good efefcts on weight loss plans. For more information www.genebright.com

Un esame del sangue per diagnosticare le malattie mentali

2009-11-30T15:19:00.001Z

Di AipsiMed , Dom, 12/10/2008 - 08:47

Un esame del sangue potrebbe presto essere utilizzato per diagnosticare e valutare la gravità di alcune malattie mentali, tra cui il Disturbo Bipolare. Prove di laboratorio in grado di rilevare le malattie mentali sono state a lungo considerate il "Santo Graal" della psichiatria.L'obiettivo di un nuovo studio è stato quello di identificare i geni o i biomarcatori che potrebbero essere utilizzati per monitorare la gravità dei sintomi della mania o depressione in pazienti con diagnosi di Disturbo Bipolare.L’idea di realizzare test genetici per la malattia mentale hanno portato a molte controversie, e secondo Art Caplan, direttore del Centro di Bioetica presso l'Università della Pennsylvania, un test genetico sullo stato mentale porterebbe ad intensificare il dibattito.Il Dr Carlos Pato, presidente del Dipartimento di Psichiatria presso la University of Southern California School of Medicine di Los Angeles, pensa che un test per la malattia mentale non dovrebbe essere considerato diversamente da quelli utilizzati per altre condizioni mediche, come il diabete o il rischio di malattie cardiache."Dobbiamo guardare al di là dello stigma che accompagna la malattia mentale, perché la cosa più importante è avere una diagnosi molto chiara per ottenere il miglior trattamento per il paziente", ha detto Pato.Il nuovo studio, progettato per valutare la gravità della malattia da un team di ricercatori guidati da Alexander Niculescu dell’ Indiana University School of Medicine di Indianapolis, pubblicato dalla rivista Molecular Psychiatry avrebbe consentito di identificare 10 geni utili per la previsione dei disturbi dell’umore.Anche se questo metodo non è perfetto, sostiene lo stesso Niculescu, il tasso di accuratezza è equiparabile ad altri esami clinici, come ad esempio alcuni metodi di screening dei tumori.Molto lavoro resta ancora da fare per confermare questi risultati ma, sempre secondo Niculescu, i test potrebbero essere disponibili sul mercato in appena cinque anni.ReferenceIdentifying blood biomarkers for mood disorders using convergent functional genomics.Le-Niculescu H, Kurian SM, Yehyawi N, Dike C, Patel SD, Edenberg HJ, Tsuang MT, Salomon DR, Nurnberger JI Jr, Niculescu AB.Mol Psychiatry. 2008 Feb 26;Candidate genes, pathways and mechanisms for bipolar (manic-depressive) and related disorders: an expanded convergent functional genomics approach.Ogden CA, Rich ME, Schork NJ, Paulus MP, Geyer MA, Lohr JB, Kuczenski R, Niculescu AB.Laboratory of Neurophenomics, University of California, San Diego, CA, USAMol Psychiatry. 2004 Nov;9(11):1007-29.Evaluating the validity of blood-based membrane potential changes for the identification of bipolar disorder IThiruvengadam AP, Chandrasekaran K.University of Maryland School of Medicine, Baltimore, MD, USA.J Affect Disord. 2007 Jun;100(1-3):75-82. Epub 2006 Nov 17 (Fonte: Brainlab)

Genetica: test del Dna per scoprire l'infedeltà. Laboratorio invece del detective

2009-11-28T15:17:00.001Z

Roma, 20 nov. (Adnkronos Salute) - Il tradimento coniugale si dimostra nel laboratorio d'analisi. Accade in Messico dove alcuni centri di diagnosi puntano alla conquista di un nuovo mercato, quello dell'infedeltà, proponendo test del Dna ad hoc per dimostrare scientificamente l'esistenza di un'amante. Il coniuge che ha un sospetto, infatti, si rivolge direttamente ai laboratori portando un indumento intimo, un lenzuolo, un bicchiere o persino un chewing-gum masticato per cercare tracce di saliva, sperma, peli o capelli dell'altro.

Con specifici test del Dna, consentiti nel Paese sudamericano anche senza l'autorizzazione dell'interessato, si può poi determinare se le tracce trovate appartengono al cliente o a qualcun altro. Queste analisi, pronte in circa una settimana, posso costare dai 200 ai 500 dollari (dai 135 euro ai 335 euro circa).

Questo nuovo business, appena avviato, in Messico ha avuto un successo immediato. "La richiesta di 'test d'infedeltà' - spiega Jorge Guillen, che dirige uno dei laboratori che propone queste analisi - è in continuo aumento. Mi è capitato di avere 50 richieste in una sola giornata. Ma è una cosa nuova per molti e ci sono molti fraintendimenti: molti clienti vengono da noi perché credono che l'infedeltà sia scritta nei geni".

Progressi negli strumenti di analisi genetica e medicina personalizzata

2009-11-26T15:13:00.001Z

Un sofisticato algoritmo computazionale, applicato ad un vasto insieme di marcatori genetici, è riuscito a raggiungere una maggiore accuratezza, rispetto ai metodi convenzionali, nell’individuare il rischio di diabete tipo 1. Un team di ricercatori, guidati dal Dr.Hakonarson, direttore del Center for Applied Genomics presso il Children’s Hospital di Philadelphia, afferma che la loro tecnica applicata ad alcune malattie multigeniche, tra cui il diabete, consente di ottenere miglioramenti nella prospettiva di personalizzare la medicina sulla base del profilo genetico di ciascun individuo. Gli studi di associazione sull’intero genoma (GWAS), nei quali vengono impiegati strumenti automatici che esaminano l’intero genoma umano alla ricerca di varianti genetiche, potrebbero permettere ai medici di predire accuratamente il rischio di ogni individuo relativo ad una specifica malattia e, quindi, guidarli nelle strategie di prevenzione e trattamento.

13 Novembre 2009

IBM promette la genetica personalizzata

2009-11-24T15:06:00.002Z

Per ora è solo una simulazione al supercomputer. Ma i nanotubi, altro campo di eccellenza di BigBlue, potrebbero garantire cure più efficaci: non appena passeranno dalla teoria alla pratica

Roma - Da quando, all'inizio del nuovo millennio, il tanto chiacchierato Human Genome Project ha portato all'identificazione dei circa 25mila geni di cui è composto il codice ereditario di ogni singolo essere umano, la scienza biomolecolare ancora manca di un approccio pratico adeguato alle mirabolanti promesse della "medicina personalizzata" su base genetica. Stando a quanto sostiene IBM, però, uno dei problemi fondamentali di questa particolare branca della ricerca starebbe per essere risolto grazie all'impiego di apposite nanostrutture in grado di veicolare (con opportuni meccanismi di "stop-and-go" bio-elettronico) i filamenti di DNA da analizzare.

La fase di sequenziamento del DNA, utile a identificare i singoli geni del paziente per valutare eventuali predisposizioni a patologie o a condizioni metaboliche particolari, è col tempo diventata una pratica abbastanza comune ma ancora ferma ai laboratori che hanno i fondi sufficienti a permettersi la strumentazione adeguata. Anche in questo caso, a ogni modo, la procedura di sequenziamento dei geni non va esattamente alla velocità della luce, e anche per i kit attualmente disponibili come prodotti commerciali occorre aspettare qualche settimana per conoscere i risultati.

"Sono stati fatti alcuni tentativi per sequenziare il DNA molto più velocemente di quanto fatto con il primo genoma umano", dice il ricercatore di computational biology Gustavo Stolovitzky in forze a IBM, e il meglio chi si è ottenuto finora è stato "usare complicati preparati di sample" in cui il DNA viene tagliuzzato, amplificato, analizzato attraverso la trascrittasi inversa e ottiche sofisticate il cui impiego richiede parecchio lavoro: per giungere a risultati comunque insufficienti in prospettiva di una medicina personalizzata.

L'approccio seguito dal dottor Stolovitzky e colleghi prevede invece l'utilizzo di strutture nanotubiche bucherellate, con fori delle dimensioni di tre miliardesimi di metro attraverso cui far passare il filamento di DNA da analizzare. Un'idea che gli scienziati carezzano da tempo, quella di usare la nanotecnologia per mimare il funzionamento delle proteine "sequenziatrici" presenti nelle cellule vive, che però risolta la questione del "passaggio" del DNA all'interno di un nano-cunicolo obbligato continua a presentare il problema della velocità eccessiva di tale passaggio.

L'applicazione di un voltaggio alle due estremità di un chip contenente i nanotubi di cui sopra farebbe insomma scorrere il DNA da un'estremità all'altra senza problemi, ma troppo velocemente per poter misurare i nucleotidi e sequenziare il corredo genetico del paziente. Nelle simulazioni al supercomputer Blue Gene di IBM tale problema è stato risolto con il design di un chip composto da uno stack di strati di silicio, ognuno dei quali capace di condurre un particolare tipo di voltaggio all'interno dei nanopori.

I singoli voltaggi sarebbero poi in grado di intrappolare i gruppi fosfato presenti nei quattro tipi di nucleotidi esistenti, bloccando il velocissimo scorrere del filamento di materiale genetico e facendo letteralmente avanzare la procedure di sequencing un nucleotide alla volta per non lasciarsene scappare nessuno. Stabilito che il sistema funziona a livello di principio, sostiene IBM, per trasformare in realtà di tutti i giorni la medicina personalizzata a base genetica e le diagnosi veloci delle infezioni ora non resterebbe che trovare il modo di "leggere" i voltaggi corrispondenti ai singoli nucleotidi e convertirli in informazioni digitali manipolabili al computer.

Alfonso Maruccia

Using Microsatellites and SNPs as Tools in Medical Genetic Diagnostics and Research

2009-11-20T13:31:00.001Z

Out of the hat of medical research

2009-11-20T13:29:00.001Z

Of many interesting stories for us to blog about this week -- so many that they'll be spilling over into next week -- here's one that seems to represent a more sensible approach to disease than the relentless focus on genetics that we so commonly see. It's about a new effort by pharmaceutical companies to invest in vaccine development. The AP story says

Malaria. Tuberculosis. Alzheimer's disease. AIDS. Pandemic flu. Genital herpes. Urinary tract infections. Grass allergies. Traveler's diarrhea. You name it, the pharmaceutical industry is working on a vaccine to prevent it.

Another story of what seems to be money well-spent appears on the BBC website. Researchers have developed a new-fangled lab-on-a-chip that will allow easier, faster and cheaper diagnosis of dozens of diseases.

The device relies on an array of antibody molecules that are designed to latch on to the protein-based molecular markers of disease in blood.

The antibodies are chemically connected to molecules that emit light of a specific colour when illuminated - but only when they have bound to the disease markers.

Some of the vaccines in the pipeline won't pan out, but some surely will, and we can imagine the lab-on-a-chip device being useful in many settings, including medically underserved areas, so we find these stories rather heartening. The money being invested is private, not taxpayer money, but not long ago a lot of pharmaceutical money was being bet on personalized genomics, and so on, which our regular readers will recognize as efforts we wouldn't have put our money on. So, it's good to see that following the money takes us in a different direction these days -- industry sees a lot more promise in preventing and treating infectious disease than in fixing genes. Indeed, a lot more disease seems to be infectious than the age of genetics led us to believe.

The Fall of deCode Genetics
It's interesting to juxtapose these two stories with this story from the Wednesday New York Times that reports on the demise of a company established to "exploit the promise of the human genome", that is, to profit from what it could learn about genetic disease from the genealogies of Iceland. Predicated on the idea that common genetic variants would be found to explain most complex disease, deCode Genetics set out to find those variants in Iceland and then develop drugs to target them. But, it turns out that complex disease is too complex for that. Again, regular readers won't be surprised if we find it hard to suppress a little "told you so".

Now, here we want to be careful about the concepts -- and it's related to central issues in The Mermaid's Tale. Life is lived, day to day, on the molecular level. Infection is essentially attack from without, and the immune system tries to recognize molecular signatures of the invading soldiers, to latch onto them and destroy them. Vaccines traditionally help the immune system do that, by exposing it to harmless mimics of the real thing (dead viruses, so to speak).

There are countless infectious diseases, affecting of most body systems, and more and more complex 'chronic' diseases that were thought to be 'environmental' or 'genetic' in the traditional senses, seem to be turning out to have infectious or inflammatory components. Thus, enhanced abilities to make vaccines could have farther-reaching implications than has been thought.

The immune system is 'genetic' of course, and its functions are fairly close to genes in many ways. But there may be other and perhaps even surprising ways this subject can bring us back to genetics. We'll deal with them in a post in the near future....

Complete Genomics and ISB Team Up for Huge Whole Genome Study

2009-11-08T17:03:00.001Z

The era of genetic studies based on whole genome sequencing is definitely upon us. According to a recent press release, Complete Genomics will provide the Institute for Systems Biology with 100 (nearly) whole genome sequences to researchHuntington’s disease – a degenerative brain condition which affects nearly 1 in 10,000 people in the US.

This will be the largest genetic association study of its kind ever. While the genetic causes for Huntington’s are well understood, the study will focus on the unknown “disease modifiers” – genes that cause the variation in severity in patients. If successful, the ISB study will also boost Complete Genomics’ reputation for sequencing.There are many ways to associate genes with diseases.

Companies like 23andMe regularly use SNPs (single nucleotide polymorphisms) to identify individuals with high risks for certain conditions. The ISB study, however, will examine nearly all of the genome – looking at SNPs, and sequences of DNA that cannot be analyzed with today’s SNP technology. As whole genome sequencing becomes cheaper (CG is at $20k and dropping) more and more research institutes will be able to follow in ISB’s footsteps and find important discoveries in the less well known stretches of your DNA.

That’s going to lead to a better understanding of the associations between illness and genetics and ultimately provide you with improved healthcare.Of course, the study isn’t remarkable simply for using whole genome sequences, it’s the number of those genomes that’s impressive. 100 genomes (probably around $20k each) is a substantial research investment. ISB is taking advantage of the patient pool size by looking at volunteers with severe forms of Huntington’s, members that exhibit a family history of the disease, unaffected family members, and control groups.

This is the first large sequence study that CG will attempt with their newly expanded facilities. It also puts them squarely on the path to achieving their goal of sequencing 10,000 genomes by the end of 2010. By expanding the range of DNA analysis to outside the standard set of SNPs, CG and other whole genome sequence companies are allowing geneticists to really examine the exome (protein coding sections) and regulatory portions of DNA. As CG, Illumina, and others make whole genome sequencing more affordable, these associated scientific advantages will become even more desirable. That’s going to mean big business growth in the next few years. Hopefully it will also mean big successes in medicine as well.

November 5th, 2009 by Aaron Saenz

Health care and personalized genetics

2009-11-05T07:49:00.003Z

How does a simple petri dish of DNA constitute the identity of a complex human being—from the way she laughs to her love of Cocoa Krispies? It turns out that the question of how biology determines identity interests not only the philosophically-inclined, but those in the drug and healthcare industry as well.

In a recent study published in Molecular Systems Biology, a computational biology team at Columbia explored the very questions that drive the current research on personalized care: How does a cell take a genotype and translate it into a phenotype? More specifically, how do genes determine our responses to medicine?

“The idea behind personalized care is that each of us is very different - we look different, we behave different, we have clearly different disease susceptibilities. All these things are genetically determined. Genetics also determines our responses to drugs,” Dr. Dana Pe’er, head of that computational biology research team, explained. Like many gadget lovers today, patients are clamoring for one-pill-fits-all cures. Tylenol, for instance, claims to relieve four different types of aches, fever, cold, cramps and arthritis. But with standardization comes the possibility of unpleasant side effects, such as, in the case of Tylenol, liver damage.

Medicines tailored to individuals would reduce the possibility of such side effects. But wouldn’t personalized care be much more expensive than the generic options we have now? “It would be cheaper!” Pe’er exclaims. “It would do away with the trial and error. A cancer patient has to pay $100,000 for chemotherapy. Won’t it be nice to tell them, ‘This won’t work for you because of your genes?’ Instead of getting it right on the third try, you can get it right on the first try.

”She also points out that avoiding all the adverse effects saves “tons of money and pain,” and that the “right meds put you back in the workforce in one day instead of three.”

A genotype scan currently costs a hefty $399, but patients only need it once in a lifetime. So what’s stopping personalized care from becoming an everyday reality? Part of the reason is that the science hasn’t yet come that far. According to Pe’er, the technology developed to investigate the connection between genotype and phenotype in terms of drug-responses is only a few years old, and the task it faces is gargantuan.

Pe’er analogizes: “Imagine there’s this huge cave, maze-like, with lots of passageways and everything’s pitch dark. Trying to do research on humans is like searching in this cave without even knowing what you’re looking for.”

To improve the search for the human genes that are related to drug resistance, Pe’er and her team focused on an easier subject: yeast, the common “workhorse” that scientists use to develop technology to apply to humans. By manipulating and testing 104 strains of yeast, they improved old search methods that traditionally relied on genetics by creating a new method that also harnesses gene expression (RNA), which indicates which genes are actively used. Their RNA-utilizing algorithm accurately predicted strain resistance for 87 of the 94 drugs tested, effectively narrowing down the number of genes related to drug resistance.

The main opponents of personalized care are not health insurers. For them, Pe’er believes, profits will rise with the reduction of the trial-and-error process which forces insurers to pay up with every treatment. Instead, pharmaceutical companies are the real antagonists: in order to maximize profit, they want standardized drugs to serve the whole population and not just a section of it. Recent pressure from the FDA—which has threatened to take drugs with adverse side effects off the shelves—has lead to heavy investment in a new field that combines pharmaceutical research and genetics: pharmocogenics. Pharmeceutical companies like Eli Lilly, who’ve been involved in legal disputes for marketing unapproved drugs, are now increasingly involved in studies on patient responses due to genetic variation.

But even if all pharmaceuticals participate to produce personalized medicine on a large scale, the truth is that we are not yet ready for personalized care. Patients and doctors are not adequately trained to interpret genotypes and translate them into appropriate treatments.

Specialized knowledge needs to be transferred from genetic-researchers to everyday medical practitioners. As Joel Burrill points out in an interview with Wired Science, unless medical schools adapt their training programs, there will be a shortage of DNA interpreters. Web sites like 23andme.com do a good job of explaining what the data means, but a large-scale implementation of personalized care would require more than Web sites.

Perhaps just as importantly, the legal infrastructure to protect the privacy of genetic information isn’t sufficiently established. It would be a veritable disaster if health insurers or workplaces got a hold of their clients’ or employees’ genetic predispositions to illnesses.Despite these obstacles, Pe’er believes that personalized care will be a reality within our lifetimes. Things are moving, even if slowly, in the right direction.

By Sarah Ngu

Learning of Risk of Alzheimer’s Seems to Do No Harm

2009-10-30T04:15:00.001Z

A genetic test that can find an increased risk of Alzheimer’s diseasedoes no psychological harm to people who take it, even if they test positive for a risky gene, a new study finds.

The results challenge views long held by the medical establishment, which has discouraged people from being tested, arguing that the test is not definitive, that it may needlessly frighten people into thinking a terrible disease is hanging over them and that testing is pointless anyway because there is no way to cure or prevent the dementiacaused by Alzheimer’s.

Follow the lonk and read the full article.

As genetic medicine races ahead, docs are left behind

2009-10-28T05:57:00.001Z

Genetic tests that can help predict and refine a patient's response to drug therapy may be the first big thing in personalized medicine. But the vast majority of physicians don't know how to use them, a new survey finds.

Smart Genetics Shuts Its Doors

2009-10-25T05:46:00.005Z

Direct-to-consumer genetic testing company, Smart Genetics, has gone out of business.

The two-year-old company sold HIV Mirror and Alzheimer’s Mirror, DNA tests for HIV progression to AIDS and Alzheimer’s risk respectively.I first wrote about HIVmirror in June 2007. Aimed at HIV+ individuals, the test analyzes the CCR5 Delta32 and CCR2-64I genetic variants previously shown to slow the progression of HIV infection to AIDS.

Alzheimer’s Mirror examined the APOE gene.CEO and co-founder Julian Awad first received funding for the company while at the Wharton School of Business. He was later profiled by CBS News for Alzheimer’s Mirror and found that his own personal lifetime risk of Alzheimer’s disease is about 9 to 10 percent compared to 15% for the general population.

Ironically, he was also mentioned in a Wharton article from 2007 – Can Anyone Make Sense — or Money — Out of Personal DNA Testing?

Apparently not.

by Dr. Hsien-Hsien Lei

Jumping On Genetic Testing: The War of the SNPs

2009-10-23T05:30:00.002+01:00

How many SNPs does it take to provide a definitive disease risk profile? Quite a few, apparently, as companies continue to pile them higher and deeper into genetic tests. Firms have bet that these tests will be widely adopted by physicians and the public to predict everything from risk of lung cancer among smokers, to prostate cancer, to Alzheimer’s disease, to baldness.

All told, about three dozen companies claim that they can provide genetic testing that predicts an individual’s risk of developing almost everything. “There is a bit of a wild wild west going on in terms of some of the DNA testing that’s out there,” said Francis S. Collins, M.D., Ph.D., the newly appointed NIH head, in an interview with CBS News in September 2008 with regard to a new offering from Smart Genetics purporting to predict susceptibility to Alzheimer’s disease (AD).

“Some of it is done by reputable companies, but there are some that are even unscrupulous who will offer you tests or DNA variations that, frankly, you’re not sure what they mean at all.” Smart Genetics stopped offering its controversial Alzheimer’s Mirror genetic test just eight months after introducing it, and the company subsequently shut its doors.

(Genetic Engineering & Biotechnology News)

CyGene Launches New Website for Direct-to-Consumer Genetic Test Marketing

2009-10-13T11:37:00.001+01:00

CORAL SPRINGS, Fla., Aug. 26, 2009 (GLOBE NEWSWIRE) -- CyGene Laboratories Inc. (Pink Sheets:CYGE) today announced that it has launched a new website, www.cygenedirect.com, where consumers can get information and order predictive genetic tests geared to inform consumers about specific options to help improve health, while maintaining anonymity. The consumer-friendly website features easy online ordering of the company's products. The site also includes comprehensive personal assessment information and details about potential benefits of the products, as well as detailed consumer information about genetics and genetic testing. The site also features links to the company's blog and its social media sites. "People have a unique opportunity with CyGene to start learning about their personal genetics and how their genes may impact their lives. Generally, this will be their first brush with this exciting new field of science and our new website can help them find out how genetic testing works, which kits are best for them, and how they can be used to improve overall quality of life and athletic performance," said Martin Munzer, president and CEO of CyGene. "And our new site makes it easier than ever for people to get the information and products they're looking for with guaranteed anonymity." The new creative direction of CyGeneDirect.com comes by way of Infinity Arts. "Our objective for CyGeneDirect.com was to re-invigorate the consumer website to be more compelling; easy to understand, navigate and relate to, while strategically improving visibility on the internet via search engines and online social mediums," said Michael Leahy, CEO for Infinity Arts. About CyGene Laboratories Inc. CyGene Laboratories Inc., based in Coral Springs, Fla., is a biotechnology company focused on introducing genetic predisposition and diagnostic testing into the general population. With five patents issued, CyGene's scientific expertise is in DNA analysis and diagnostic technologies. Incorporated in 1995, CyGene has been developing technology and introducing products that address the growing demand for genetic knowledge implementation and utilization. CyGene currently markets eight DNA predictive genetic test panels in accordance with its patent pending business model, sold direct to consumers and through physicians and other healthcare practitioners. CyGene's process offers customers access to the most updated science, guaranteeing their anonymity and keeping consumers on the cutting edge of genetic discoveries at the lowest possible price. The method also allows customers who have purchased a previous genetic test panel a low cost upgrade to their genetic report as new genetic discoveries become available. For more information about CyGene Laboratories and its products, visit the Company's website at www.CyGeneDirect.com.

Genetic Testing in France

2009-10-10T11:29:00.002+01:00

By Tamar G. McLachlan

Well we visited The Geneticist Today; a Professor Labrune, at the Hospital Beclere (somewhere on the outskirts of Paris). Actually, it is in the direction of Versailles and my husband commented on how exciting it is to be in a place where we could hop over to Versailles after a doctor's visit. The fact that I was a.) freezing b.) nauseous c.) trying not to pass out from the bus ride kept me from agreeing enthusiastically.

We secured this appointment in the complex yet sincere way that the French do everything. After many emails and several intense consults with friends and family, I was convinced (not to mention a bit panicked) that it was essential that I be tested for a variety of genetic diseases (including the Jewish ones). Apparently, even though neither my husband nor I have any history of genetic diseases of any sort in our families, this testing is common in the USA and so we were advised to pursue it.

In my normal pre-pregnancy state I tend a TAD towards the anxious side. In my pregnant state with hormones running rampant I am pretty close to hysteria much of the time. I searched the internet, examined pregnancy books and grilled friends and family doctors at home about the dangers of genetic illnesses. Visions of deformed babies and childhood deaths haunted me. Meanwhile, my Parisian GYN looked at me blankly when I mentioned that I must be tested for a variety of diseases, a.s.a.p. She had no idea what I was asking.

True to French form, after my doc greeted my anxieties with a look of curiosity and confusion, she set off on a search through the hospital to find the answers to my questions. After a forty-five minute tour of the hospital, consulting with a variety of physicians, she returned to her office (where I was not-so-patiently waiting) to tell me that this hospital does not in fact perform such screening (what?! This is common practice in the USA!)

In fact, since it is a specialized concern, she would refer me to a genetics specialist who would give me an individual consult.

Frustrated that I couldn't just have the blood test done and over with then and there (I abhor blood tests), I grudgingly took the information and waited for my appointment. This was one of my many lessons in the French health system, which is related to the French culture in general. The French, as a whole, feel entitled to good care. They feel it is their right and their privilege to seek professional advice and help when and where they want it. Because of socialized medicine, there is no hesitancy to refer to specialists. Likewise, there is no hurry to pack many patients into a short time frame, scheduling appointments 15 minutes apart as in the USA.

In two months, I have visited my GYN four times and only once has it been for an actual exam. The others were all consults or opportunities for me to address concerns and get information. Two of these consults included my husband. When I call my doctor, I actually reach her directly on the phone. If I have anything other than a brief question, she schedules an appointment to talk in person. Sometimes these appointments last up to an hour. My private insurance (since I don't qualify for social security) covers 90% of all my care.

Therefore the entire mentality is different. French people often seek several consultations from several doctors to get different opinions. They are not restricted by primary care referrals and 15 minute sessions. Patients hold onto their own medical records, lab reports and x-rays.

So my husband and I were sent to see Professor Labrune, the Genetics specialist. We had an appointment schedule for 9:30 am and I was so anxious about finding the office and arriving on time that I couldn't sleep the night before. Clay calmly planned out our subway route. The next morning we left before dawn (the sun doesn't rise until 8:30 a.m. --a real downer in the early morning) and shivered our way to the metro. One metro and one extremely nauseating bus ride later, we found ourselves in front of what looked like a warehouse. Armed with only the Professor's name (and no other information), we wandered around the chain link fence, looking for the appropriate entrance. We finally found a sign directing us to Prof Labrune Porte 33. Hesitantly, we entered the "porte', which was actually a delivery entrance. Following a bakery delivery truck in through the door, we found ourselves in a garage, wondering where the heck the doctor's office was. We wandered our way through a door (having asked a confused delivery man where to go), which led to a maze of white hallways. By this time, I was anxious, nauseous and desperately had to use the bathroom, which luckily I found easily. No matter that it was an employee only entrance; this was a desperate situation (besides, I figured "hey I'm a pregnant lady! Back off!"), I could hear my husband asking for directions in the hallway. It turns out that we had come in through the kitchen entrance and were now in the back of the hospital cafeteria. Clearly not where Prof Labrune must be waiting.

We stumbled our way through an ER section, past a row of empty gurneys and up a flight of stairs leading to the information desk. The very friendly woman behind the desk directed us around the corner to pediatrics, where we sat, among an assortment of toddlers and parents, waiting to be seen. My husband beamed at the darling children; I tried to keep from throwing up or passing out.

"Look" I turned to him, "I'm not big on blood tests or hospitals and my French is headed out the window so if you could be the proactive team member here, that would be great. I mean, how the hell do I ask about being a carrier for Taysachs disease in French?"

I was concerned that I would be confronted with a grumpy Professor, who was wondering why we were wasting his time. I was worried that I would have to convince him to authorize the screenings for us (because in the USA, everything is about getting "authorization") and, that I would have to discuss genetics, not my forte… in French, also not my forte.

I couldn't have been more off base. The Professor was a charming, gentle, quiet and patient man who first took our family history. Then he patiently explained the various diseases we were concerned about (in too much detail), their origins (not really necessary) and the percentage of risk. I couldn't believe that we were having this conversation in French! And I actually understood it! Not that I "understood" it. I understood the words. And the context. I was just reveling in my linguistic breakthrough when he pulled out a piece of paper and started to diagram the cell mutation related to one of the diseases. (At this point I had to admit defeat. Not due to language barriers but due to my own science learning disability. Once someone starts talking cells and DNA, I start to lose it). Not wanting to be rude (he was enamored with his description of some particular cell growth), I steered the conversation back to our family trees and what tests would be appropriate for us.

This led to the obligatory piece of any professional consult in France: the paperwork. In order to be tested we must solemnly sign the agreement to show that we fully understood the solemn oath of his professional boundaries (confidentiality, professional courtesy, professional boundaries and a myriad of other issues which seemed to pertain mainly to his limitations as a mortal and not as an agent of God). Then there would be the second set of papers authorizing release of this information to my doctor, which could only be sanctioned with my personal authority. Otherwise, our test results would remain in the secrecy of Professor Labrune. He took this very seriously. An oath of privacy.

After we satisfactorily signed and sanctioned the paperwork, we were led next door to the lab technician to have our blood drawn. Just the thought of this process made me queasy, but my husband, who is quite an experienced blood donor, asserted that this was one of the most professional outfits he had ever seen. Not only were the technician (and her assistant) extremely friendly and caring, they treated us like dear friends, expressing extreme concern over my obvious distaste for the process. Offers of juice, attempts to make jokes, were all lost on me as I did my best to disassociate from the process. They even recommended an anesthetic patch that can be purchased in the pharmacy, to numb the area to be pricked.

I stumbled out of the technician's office (desperate to get away from any sign of B-L-O-O-D) and we returned to the information desk to settle our bill. Having been quoted a fee of $1000 to have this exact procedure (consult and tests) done in Boston, we were shocked to be asked to pay a total of 32.10 euros. I must have heard wrong. She must have meant 300 euros and in my light -headed state I was getting the numbers wrong. Nope. 23 euros for the consult with the Professor and 4 euros for our tests, plus a couple of euros miscellaneous. "You do have insurance that will reimburse you?" she asked me with a concerned look.

I am overwhelmed by the quality of service, professionalism and State of the Art care we have experienced here. I'm sure some of it is luck. But boy have we been lucky.

Flu H1N1 2009 - Measures in school settings

2009-10-09T21:58:00.003+01:00

GENEVA -- WHO is today issuing advice on measures that can be undertaken in schools to reduce the impact of the H1N1 influenza pandemic. Recommendations draw on recent experiences in several countries as well as studies of the health, economic, and social consequences of school closures. These studies were undertaken by members of a WHO informal network for mathematical modelling of the pandemic.

Experience to date has demonstrated the role of schools in amplifying transmission of the pandemic virus, both within schools and into the wider community. While outbreaks in schools are clearly an important dimension of the current pandemic, no single measure can stop or limit transmission in schools, which provide multiple opportunities for spread of the virus.

WHO recommends the use of a range of measures that can be adapted to the local epidemiological situation, available resources, and the social role played by many schools. National and local authorities are in the best position to make decisions about these measures and how they should be adapted and implemented.

WHO continues to recommend that students, teachers, and other staff who feel unwell should stay home. Plans should be in place, and space made available, to isolate students and staff who become ill while at school.

Schools should promote hand hygiene and respiratory etiquette and be stocked with appropriate supplies. Proper cleaning and ventilation and measures to reduce crowding are also advised.

School closures and class suspensions

Decisions about if and when schools should be closed during the pandemic are complex and highly context-specific. WHO cannot provide specific recommendations for or against school closure that are applicable to all settings. However, some general guidance comes from recent experience in several countries in both the northern and southern hemispheres, mathematical modelling, and experience during seasonal epidemics of influenza.

School closure can operate as a proactive measure, aimed at reducing transmission in the school and spread into the wider community. School closure can also be a reactive measure, when schools close or classes are suspended because high levels of absenteeism among students and staff make it impractical to continue classes.

The main health benefit of proactive school closure comes from slowing down the spread of an outbreak within a given area and thus flattening the peak of infections. This benefit becomes especially important when the number of people requiring medical care at the peak of the pandemic threatens to saturate or overwhelm health care capacity. By slowing the speed of spread, school closure can also buy some time as countries intensify preparedness measures or build up supplies of vaccines, antiviral drugs, and other interventions.

The timing of school closure is critically important. Modelling studies suggest that school closure has its greatest benefits when schools are closed very early in an outbreak, ideally before 1% of the population falls ill. Under ideal conditions, school closure can reduce the demand for health care by an estimated 30–50% at the peak of the pandemic. However, if schools close too late in the course of a community-wide outbreak, the resulting reduction in transmission is likely to be very limited.

Policies for school closure need to include measures that limit contact among students when not in school. If students congregate in a setting other than a school, they will continue to spread the virus, and the benefits of school closure will be greatly reduced, if not negated.

Economic and social costs

When making decisions, health officials and school authorities need to be aware of economic and social costs that can be disproportionately high when viewed against these potential benefits.

The main economic cost arises from absenteeism of working parents or guardians who have to stay home to take care of their children. Studies estimate that school closures can lead to the absence of 16% of the workforce, in addition to normal levels of absenteeism and absenteeism due to illness. Such estimates will, however, vary considerably across countries depending on several factors, including the structure of the workforce.

Paradoxically, while school closure can reduce the peak demand on health care systems, it can also disrupt the provision of essential health care, as many doctors and nurses are parents of school-age children.

Decisions also need to consider social welfare issues. Children’s health and well-being can be compromised if highly beneficial school-based social programmes, such as the provision of meals, are interrupted or if young children are left at home without supervision.

Genetic testing for breast or ovarian cancer risk may be greatly underutilized

2009-10-07T11:27:00.002+01:00

Although a test for gene mutations known to significantly increase the risk of hereditary breast or ovarian cancer has been available for more than a decade, a new study finds that few women with family histories of these cancers are even discussing genetic testing with their physicians or other health care providers.

In a report in theJournal of General Internal Medicine, which has been released online, investigators from the Massachusetts General Hospital (MGH) Institute of Health Policy and Dana-Farber Cancer Institute note that their findings illustrate the challenges of bringing genetic information into real-world clinical practice. "Testing for BRCA1 and 2 mutations has been around a long time and should be a good indicator of whether genetic testing is making its way into regular medical practice," says Douglas Levy, PhD, of the MGH Institute for Health Policy, the study's lead author. "When a well-established genetic test is not being incorporated into clinical practice when appropriate, we are a long way from meeting the promise of personalized, genetically-tailored medical care.

"Most women's lifetime risk of breast cancer is about 13 percent, and the risk for ovarian cancer is less than 2 percent. But women with mutations in the BRCA1 or BRCA2 genes may be 3 to 7 times more likely to develop breast cancer and 9 to 30 times more likely to develop ovarian cancer than women with unaltered forms of the genes. Several organizations have issued clinical guidelines designating who should be screened for BRCA1/2 mutations, and while there have been discrepancies among the guidelines, all of them include a history of breast or ovarian cancer in close relatives among the criteria indicating elevated risk. The authors note that most U.S. health insurers cover at least part of the cost of BRCA1/2 testing for at-risk women.

Flu symptoms self-assessment: Do you have seasonal or swine flu (H1N1)?

2009-09-22T23:10:00.002+01:00

Influenza is a viral infection that attacks your respiratory system, including your nose, throat, bronchial tubes and lungs.

If you're generally healthy and you catch influenza — commonly called the flu — you're likely to feel rotten for a few days, but you probably won't develop complications or need hospital care. If you have a weakened immune system or chronic illness, though, influenza can be fatal.

For those at high risk of influenza, the first line of defense is an annual flu shot. This year, in addition to a regular flu shot, you may need a different flu shot for protection against novel H1N1 swine flu, a new type of influenza identified earlier this year. The first doses of swine flu vaccine will be available later this fall, after seasonal flu immunization begins.

Initially, the flu may seem like a common cold with a runny nose, sneezing and sore throat. But colds usually develop slowly, whereas the flu tends to come on suddenly. And although a cold can be a nuisance, you usually feel much worse with the flu.

Common signs and symptoms of the flu include:

Fever over 101 F (38 C) in adults, and often as high as 103 to 105 F (39.5 C to 40.5 C) in children
Chills and sweats
Headache
Dry cough
Muscular aches and pains, especially in your back, arms and legs
Fatigue and weakness
Nasal congestion
Loss of appetite
Diarrhea and vomiting in children

When to see a doctor
If you have flu symptoms and are at risk of complications, see your doctor right away. Taking antiviral drugs within the first 48 hours after you first notice symptoms may reduce the length of your illness by a day or two and may help prevent more serious problems. Seek immediate medical care if you have signs and symptoms of pneumonia. These include a severe cough that brings up phlegm, a high fever and a sharp pain when you breathe deeply. If you have bacterial pneumonia, you'll need treatment with antibiotics.

Flu viruses travel through the air in droplets when someone with the infection coughs, sneezes or talks. You can inhale the droplets directly, or you can pick up the germs from an object, such as a telephone or computer keyboard, and then transfer them to your eyes, nose or mouth.

The flu is caused by three types (strains) of viruses — influenza A, B and C. Type A can be responsible for the deadly influenza pandemics (worldwide epidemics) that strike every 10 to 40 years. Type B can lead to smaller, more localized outbreaks. And either types A or B can cause the flu that circulates almost every winter. Type C has never been connected with a large epidemic.

Type C is a fairly stable virus, but types A and B are constantly changing, with new strains appearing regularly. Once you've had the flu, you develop antibodies to the strain that caused it, but those antibodies won't protect you from new strains. That's why doctors recommend getting a flu shot every year.

You're at increased risk of influenza or its complications if you:

Are an infant or young child
Are over age 50
Are a resident of a nursing home or other long term care facility
Have a chronic disorder, such as diabetes or heart, kidney or lung disease
Have a weakened immune system, such as from medications or HIV infection
Will be pregnant during flu season
Work in a health care facility where you're more likely to be exposed to the flu virus
Are in regular, close contact with infants or young children

Children on long-term aspirin therapy also may be at greater risk.

The flu vaccine is safe for children 6 months and older. If your child isn't at risk of the flu but lives with someone who is, you still may want to have your child vaccinated. That way, your child is less likely to infect others. The more people immunized, the less likely it is that the flu will spread through a community.

Get Your Entire Genome From Complete Genomics For $5000

2009-09-11T01:39:00.001+01:00

It’s getting progressively cheaper to sequence your entire genome. Earlier in June, Illuminaannounced it would provide sequencing for close to $50k, half of their original price. Not to be outdone, Complete Genomics just released on Monday that it had gathered $45 million dollars in funding. The Silicon Valley based company is planning to use that money to further develop their streamline sequencing operations so that they can offer a complete genome for just $5000 by next year. CG’s goal is to finish 10,000 sequences by years end 2010. Even though that’s later than we had hoped, it’s still a whole lot of DNA and at the cheapest price for a whole genome seen so far. The question is, can they really pull it off?

We’ve been looking for a company, any company really, to break the $1000 price mark for a complete genome sequencing sometime in the next few years. That’s about the point where retail sales of the service will explode. With their exponentially decreasing price tag, Complete Genomics might be on that path. However, we know of at least one company that is trying to reach that goal by the end of this year. Stay tuned for that story in the next few weeks.

If you’ve never heard of Complete Genomics, read our first and second story to catch up. Basically they use a common form of short read sequencing and throw in a ton of computer power to sequence a human genome. Interest in personal genomics is escalating as genetic links to diseases are discovered. 23andMe already offers some testing for such diseases and is hoping to gather samples for further clinical trials. By providing the entire genome for perusal on the cheap, CG could make it economically feasible to expand that research into many more illnesses. Already, we’ve shown you how some facilities are erroneously promising to predict a child’s aptitudebased on genetic sampling. Perhaps with the cheap sequencing CG could provide, scientific research will match pace with the growing demand for such testing.

Daniel MacArthur of Genetic Future was able to pry CG head Cliff Reid to provide some details in how they hope to achieve their goals. First, Reid disclosed that the test won’t be offered directly to consumers, but rather through retail providers such as Knome and 23andMe. That means the price you or I will see could be considerably higher than $5k. Whatever the retail price, Reid promises 120 billion base pairs sequenced, 98% of the genome, with just one error in 10,000. That’s considerably better stats than what CG offered in February (92% of genome, about one error in 1,000).

Between now and year’s end 2009, Complete Genomics will focus on its dozens of customers currently in the line up. These include the Broad Institute out of MIT and Harvard which announced it was purchasing at least 5 genomes from CG in March. The Broad Institute reportedly paid $20k for each of their genomes which might be taken as the current baseline price for CG customers. If so, that’s a factor of four that the company has to make up between now and next year.

But scaling is no problem for genome sequencing. Remember that it took 15 years to sequence the first human genome, but the next 6 were done in 24 months. Now we’re talking about doing thousands a year. That’s just nuts and one of the amazing parts about sequencing that I love. Exponential growth is sexy science. And it’s supposed to be one of CG’s strengths. They just finished their first genome in the summer of 2008, and are now on schedule to finish 100 by the end of 2009. Current estimates of finishing 1000 by mid 2010, and 9000 more by the end of that year fit within the exponential growth curve. As MacArthur points out, most of these sequencing services will likely be purchased by researchers in genomic and cancer studies. So the demand is also there.

How can CG scale so quickly? By remaining inflexible but efficient. Their process doesn’t rely on making huge improvements in sequencing technology. Or finding a new sequencing technique. It comes down to streamlining the process. Stick to one task, human genome sequencing, miniaturize whenever possible, fewer reagents means lower costs, and build build build. You can bet a huge portion of that $45 million is going to expanding their facilities in Mountain View.

Who provides the cheap genomes is probably less important than the change it will create. While scientific research will undoubtedly benefit first, the public at large will likely become a dominant consumer. Genetic information is on the journey to becoming one of the most important sets of data someone can know about themselves, with insights into disease, aptitudes, and longevity. Give us the chance for cheap access to that info and you’ll never run out of customers. Just a little while longer, it’s bound to happen.

New Genetic Variation Linked To Diabetes

2009-09-08T09:01:00.001+01:00

Researchers say they have identified a genetic variation in people with type 2 diabetes that affects how the body's muscle cells respond to the hormone insulin. Previous studies have identified several genetic variations in people with type 2 diabetes that affect how insulin is produced in the pancreas. Today's study shows for the first time a genetic variation that seems to impair the ability of the body's muscle cells to use insulin to help them make energy.
People with type 2 diabetes can have problems with the body not producing enough insulin and with cells in the muscles, liver and fat becoming resistant to it. Without sufficient insulin, or if cells cannot use insulin properly, cells are unable to take glucose from the blood and turn it into energy. Until now, scientists had not been able to identify the genetic factors contributing to insulin resistance in type 2 diabetes. In the new research published in Nature Genetics, scientists from international institutions including Imperial College London, McGill University, Canada, CNRS, France, and the University of Copenhagen, Denmark, looked for genetic markers in over 14,000 people and identified four variations associated with type 2 diabetes. One of these was located near a gene called IRS1, which makes a protein that tells the cell to start taking in glucose from the blood when it is activated by insulin. The researchers believe that the variant they have identified interrupts this process, impairing the cells' ability to make energy from glucose. The researchers hope that scientists will be able to target this process to produce new treatments for type 2 diabetes. "It is now clear that several drugs should be used together to control this disease. Our new study provides scientists developing treatments with a straightforward target for a new drug to treat type 2 diabetes," said Froguel. The most significant of these variations was located near the insulin receptor substrate 1, or IRS1, gene.

Article: "A multistage genome-wide association study detects a new risk locus near IRS1 for type 2 diabetes, insulin resistance and hyperinsulinemia", Nature Genetics, 6 September 2009.

Multiple Sclerosis Breakthrough: New Genetic Risk Factors Discovered

2009-09-06T21:04:00.002+01:00

Multiple Sclerosis Breakthrough: New Genetic Risk Factors Discovered

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Makeover Travel : … A top choice for surgery abroad!!

2009-09-04T02:38:00.001+01:00

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Whole-Genome Sequencing: Any Useful Data?

2009-09-02T02:36:00.001+01:00

ClinSeq is a pilot project to investigate the use of whole-genome sequencing as a tool for clinical research. By piloting the acquisition of large amounts of DNA sequence data from individual human subjects, we are fostering the development of hypothesis-generating approaches for performing research in genomic medicine, including the exploration of issues related to the genetic architecture of disease, implementation of genomic technology, informed consent, disclosure of genetic information, and archiving, analyzing, and displaying sequence data.

In the initial phase of ClinSeq, we are enrolling roughly 1,000 participants; the evaluation of each includes obtaining a detailed family and medical history as well as a clinical evaluation. The participants are being consented broadly for research on many traits and for whole-genome sequencing. Initially, Sanger-based sequencing of 300-400 genes thought to be relevant to atherosclerosis is being performed, with the resulting data analyzed for rare, high-penetrance variants associated with specific clinical traits.

He also mentioned the 1000$ genome project and the unofficial estimation is that now it’s possible to sequence a person’s genome for under 5000$ and the 1000$ aim can become a reality at the end of this year.

Personalized medicine: The Doctors are OK with this?

2009-08-31T09:22:00.001+01:00

Yesterday in "The Times" a nice article was posted about the revolutionary way in which doctors will receive education about CLINICAL genetics, this time it is from NonClinical Scientists......

At the tune of 4.5 Million British Pounds!

This may work with CGCs, oh wait, they don't do much of anything in the UK system.

What about clinical geneticists?
Who?

Ok, scientists it is......

So I can just see it now.

A busy NHS practice, patients out the door, flu shot here, flu shot there and in rolls the "Scientist"

Clinician-"Oh hi, you must be the genetics guy sent from the government. Have a seat, I'll be right with you"

4 hours later

Scientist-Sitting nicely, waiting

Clinician-"Ok, lets chat over lunch"

Scientist-"Glad to be here, Let's talk about what a chromosome is"

Clinician-Scarfing down a sandwich "Ok, that was great, gotta go. I am double booked. See you in a few"

4 hours later

Scientist-Sitting Nicely, waiting

Clinician-"Sorry about that, I had a sickie and then the crazy lady....G-d where did the time go?"

Scientist-"See you tomorrow?"

Clinician-"You bet, I feel better prepared already"

As nice as this one is, I have already tried it with a clinical geneticist who actually can create billable events and see patients........ I am not so certain that going to the doctors will help as much as being on their iPhone or on a hotline.......

Attend Genetics Meetings for Free

2009-08-29T09:19:00.001+01:00

Genetic Alliance is now accepting applications on a rolling basis for theirAdvocates Partnership Program. Successful applicants will have meeting registration fees waived plus be reimbursed for $250 in meeting-related fees, including transportation, hotel room, or airfare. Genetic Alliance will also arrange exclusive daily briefings.

The two meetings applicants can attend are:

American Society of Human Genetics Annual Meeting
October 20-24, Honolulu, Hawaii

National Society of Genetic Counselors Annual Education Conference
November 13-15, Atlanta, Georgia

Applicants are selected based on their responses to the following questions (for the ASHG meeting):

What do you hope to gain from participating in the American Society of Human Genetics Annual Meeting? The Partnership Program?
What are the main topics in the 2009 ASHG meeting program that interest you, and how will they benefit the work you are engaged in?
What challenges do your organization and its members face with regard to research?
What are the opportunities for your organization and its members in emerging research?
Please describe the ways that genetics professionals are currently involved in your organization, or how you would like to involve them in the future.

Sounds like a fantastic opportunity especially for those who are based in the city where the meetings are going to be held this year. For more information and application forms, go tohttp://www.geneticalliance.org/advocates.opportunities.

Staminali adulte per riparare danni al cuore

2009-08-27T09:18:00.001+01:00

L'infarto del miocardio è una sindrome che colpisce la parete muscolare del cuore, determinandone la morte cellulare.

Il trattamento farmacologico e quello chirurgico fino a pochi anni fa rappresentavano l'unica strategia terapeutica. Oggi la medicina rigenerativa offre una valida alternativa ai tradizionali metodi di cura. A evidenziarlo i risultati di uno studio condotto dall'Istituto di neurobiologia e medicina molecolare del Consiglio nazionale delle ricerche di Roma(Inmm-Cnr), insieme all'Istituto superiore prevenzione e sicurezza sul lavoro (Ispesl) e all'Università di Roma La Sapienza.

"Il nostro lavoro ha dimostrato che è possibile agire sulla crescita e sul differenziamento delle cellule - spiegano Settimio Grimaldi e Antonella Lisi dell'Inmm-Cnr - attraverso minime manipolazioni in vitro, esponendole a campi magnetici in grado di indurre variazioni intracellulari nella concentrazione dello ione calcio e soprattutto senza dover ricorrere a trattamenti chimici, farmacologici o genetici".

La tecnica consente, infatti, di isolare e coltivare in vitro le cellule staminali cardiacheendogene o adulte, a partire da campioni di biopsie atriali e/o ventricolari, risolvendo così tutti quei problemi collegati al numero di cellule sufficiente per consentire iltrapianto.

Nell'ambito di questa ricerca è stato utilizzato un precedente brevetto Ispesl-Cnr (WO/20077004073A2) per la coltura, la crescita e il differenziamento delle cellule staminali adulte, rendendone possibile l'utilizzo anche nella medicina rigenerativa. "Il vantaggio offerto da questo brevetto sta nel raggiungimento in un tempo breve - continuano i ricercatori - di un aumento sia della proliferazione sia del differenziamento cellulare. Infatti è possibile ottenere, dopo pochi giorni di trattamento, un adeguato numero di cellule staminali che esprimono i marcatori del differenziamento cardiaco. Le cellule così differenziate, se trapiantate nel cuore danneggiato, possono ridurre i danni provocati dall'infarto. Inoltre il trapianto può essere anche di tipo autologo: le cellule staminali possono essere prelevate direttamente dal paziente per poi reimpiantarle successivamente, senza l'intervento di un donatore esterno, ovviando così a problematiche legate al rigetto".

Le malattie cardiovascolari restano la principale causa di morte nel nostro paese con il 44% della totalità dei decessi: al primo posto la cardiopatia ischemica con il 28% e al terzo gli accidenti cerebrovascolari con il 13%, subito dopo i tumori. Eventi che, quando non sono letali, rappresentano un'importante causa di disabilità, con ricaduta diretta sia sul malato che sulla famiglia e l'intera comunità.

"Ogni anno - conclude Grimaldi - si spopola una città per le malattie del cuore. E, chi sopravvive a un attacco cardiaco diventa comunque un malato cronico. Il 23,5% della spesa farmaceutica italiana, pari all'1,34% del prodotto interno lordo, e' destinata a farmaci per il sistema cardiovascolare secondo la Relazione sullo stato sanitario del Paese 2000".

I risultati della ricerca sono stati pubblicati su Cardiovascular Research, rivista scientifica internazionale dell'Oxford Journal, nell'articolo 'Differentiation of human adult cardiac stem cells exposed to extremely low-frequency electromagnetic fields'. In futuro gli autori si propongono di validare il sistema anche sulle cellule staminali di diversa origine tissutale.

Smettere di fumare produce benefici per il cuore

2009-08-25T09:16:00.001+01:00

Gli effetti benefici sul cuore per i fumatori che riescono ad abbandonare il fumo sono immediati.

Sono queste le conclusioni alle quali sono arrivati alcuni ricercatori del Feinstein Institute for Medical Research di New York che hanno pubblicato i risultati di una loro ricerca sulla rivista Chest. I ricercatori hanno monitorato l'evoluzione di alcuni biomarcatori caratteristici dei disturbi cardiovascolari in un gruppo di donne che stava tentando di smettere di fumare.

I risultati hanno evidenziato che, nelle donne che avevano effettivamente smesso di fumare, c'è stata una 'considerevole' riduzione di tutti i biomarcatori che monitoravano il rischio di malattie cardiovascolari e anche di tumori.

Nuovo indicatore per attacchi di cuore

2009-08-23T09:10:00.001+01:00

Scoperto un nuovo indicatore per prevedere la prognosi dell'attacco di cuore. Il rapporto tra albumina e creatina presenti nelle urine, infatti, permetterebbe di avere molte indicazioni sulla probabile progressione dell'attacco. Lo hanno scoperto i ricercatori dell'Università di Glasgow (Gran Bretagna), che hanno pubblicato il loro studio sulla rivista Lancet.
"Un incremento della secrezione della proteina albumina nelle urine è un fattore consolidato di rischio di mortalità e attacchi cardiaci", ha detto John JV McMurray del British Heart Foundation Cardiovascular Research Centre, a capo dello studio. "Abbiamo scoperto che il rapporto tra albumina e creatina (UACR) permette di prevedere il decorso di un attacco di cuore".
Per i ricercatori, l'UACR è un sistema di prognosi semplice ma efficace. "E' possibile effettuarlo con facilità", ha concluso McMurray. "Il suo valore per le previsioni cliniche è di grande interesse per medici e pazienti".

AGI Salute
Data pubblicazione 14/08/2009 0.00.00
Data ultima modifica 14/08/2009 12.39.00

Weight Loss 2.0: Webicina Web Guidance Package

2009-08-21T09:08:00.001+01:00

The web is full of advertisements, spams and false information focusing on weight loss so collecting the best resources from the highest quality was a real challenge but it’s a pleasure to present the newest Package fromWebicina, the first medical web 2.0 guidance service. Weight Loss 2.0 is a free comprehensive resource containing all the web 2.0 tools from quality blogs and communities to online slideshows and mobile applications that people interested in weight loss can use in their health management.

Please take a look at the table of contents:

The Next Big Thing Is Not Right in Front of You

2009-08-19T09:00:00.001+01:00

Investing in technology-driven fields is risky, especially when everyone touts them as the Next Big Thing. Sure, it's easy to see quick gains, but you're just as likely to see those gains vanish as the next-generation technology sneaks in and replaces it -- the disruptor becomes the disrupted, so to speak.Perhaps the fastest evolving technology right now isn't computer tech, but rather is found in DNA sequencing. We've gone from sequencing the first genome for about $2.7 billion in the Human Genome Project just a few years ago and rather quickly come down to $50,000 apiece. Next stop: the $1,000 genome.This week an article in Nature Biotechnology documented the use of aHelicos BioSciences' system to sequence the genome of one of its scientific founders at a cost of under $50,000 -- excluding the cost of the $1 million machine, of course. In June, rival Illumina (Nasdaq: ILMN) announced that it was launching a service to sequence genomes of rich people -- let's face it, they're the only ones who can afford it at

this point -- for about the same cost, so the price isn't what's exciting.

What should have makers of second-generation sequencers -- Illumina, Roche and Life Technologies (Nasdaq: LIFE) -- a little worried is that Helicos' system allows for sequencing of a single DNA molecule. Removing the amplification step to generate many copies of the DNA molecule should speed up the process and theoretically make it less costly.Don't go running out to buy shares in Helicos just yet, though. There's a reason the company trades at a market cap well below $100 million. Two private companies, Oxford Nanopore and Pacific BioSciences, are developing machines that can sequence much longer single molecules, which should speed up sequencing and bring down the cost. Being private companies without disclosure issues, the businesses can operate somewhat in stealth mode, which makes it hard for investors to determine exactly who will win this battle. To keep from getting disrupted, Illumina has partnered with Oxford Nanopore to market its next-next-generation sequencer once it's available for commercial use, so it may be positioned well if Oxford Nanopore's technology turns out to work well.Is it nothing more than a head fake?

So calling the above the Next Big Thing is a bit of a mistake, mostly because we, as outside investors, don't have any real way to benefit (except, possibly, with Illumina). Rather than trying to figure out which company's technology will eventually prevail, investors might be better off looking at companies working on making the overload of information from sequencing thousands of genes more useful for patients: deCODE Genetics, Knome, Navigenics, and 23andMe.Unfortunately, they're all private companies, with the exception of deCODE Genetics. And that one is a penny stock selling off assets to stay alive. You can get a piece of 23andMe by buying shares in one of

its investors, Google (Nasdaq: GOOG), although that's a fairly convoluted way to get in on the action. Keep

them in mind for the future, though, if they ever go public. Presenting DNA sequence data in an understandable fashion is something customers are going to be willing to pay for. Fool co-founders Tom and David

Gardner used 23andMe's service, which eventually led David to recommend Illumina to Stock Advisor newsletter subscribers.The real beneficiaries of the Next Big Thing

So if the winner of the sequencer war is still up in the air (or they're all doomed to a low-margin death) and genome-information companies are all private, how can investors profit from this Next Big Thing? I think the real winners from low-priced sequencing will be drug developers.Consider: Much of the low-hanging fruit for treating diseases has already been picked. To take drug-development to the next level, drugmakers need to know how genetic differences in patients affect the usefulness of their drugs. For instance, mutations in a gene called K-ras affect whether Amgen's (Nasdaq:AMGN) Vectibix or Bristol-Myers Squibb's (NYSE: BMY) and Eli Lilly's (NYSE: LLY) Erbitux helps cancer patients or not. Knowing that ahead of time? Priceless, both to the patient and the company.By avoiding patients a drug can't help, drugs will become more efficient, on average, which should make everyone happy. However, a widespread personalized approach to medicine will only be possible when DNA sequencing become cheap enough. We seem to be on the road, but it will still take a while to develop drugs to take advantage of this new knowledge. So this is a long-term play for sure.The genome craze in the early part of this decade didn't live up to its hype -- just take a look at a 10-year chart ofHuman Genome Sciences (Nasdaq: HGSI) to see what I mean.I truly think it's different this time. But figuring out the best place to put your dollars to work requires more than jumping in on the obvious.

Biopolis Street, Singapore: how will it change your life?

2009-08-17T08:59:00.001+01:00

One of the coolest places in Singapore – Biopolis, centre for biomedical sciences in Asia.

The Genome building houses swissnex Singapore (previously Swiss House Singapore) and the Genome Institute of Singapore.

Is cancer genetic?

2009-08-15T10:43:00.001+01:00

Cancer risk is complex. Cancer is so common that we all probably know someone whose life has been affected by one form of cancer or another. A lot of us probably know people who seem to have cancer "running in the family". Cancer can occur in three main ways:

Sporadic cancers - these are cancers that occur by chance in individuals who have no known genetic risk factors and no significant family history. Approximately 60% of cancers are sporadic.
Familial cancers - these are cancers caused by variants in multiple genes and the environment all working together. In this case, each genetic variant causes a slight increase in risk. The overall risk of developing cancer depends on the number of cancer risk genetic variants that a person inherits and what environmental factors interact with those genes. Although these cancers appear to cluster in families, they don’t follow the typical rules of inheritance.
Hereditary cancers - these are cancers that are associated with a change in a single cancer susceptibility gene (like BRCA1 or BRCA2). These genes account for a very small percentage of all cancers. In fact, only 5-10% of breast and colon cancer cases are caused by changes in a single gene. Although everyone who carries a change in a cancer susceptibility gene does not get cancer, the risk is increased greatly, usually to 50% or higher. These types of genetic changes are passed on in an autosomal dominant inheritance pattern in families. This means that each child of an individual that carries a gene change in a hereditary cancer susceptibility gene has a 50% chance of inheriting the gene change.

Many people mistakenly think that the risk of cancer is always passed on through families as a single "cancer gene". However, like other complex diseases, changes in many genes that each plays a role in the development of cancer are much more likely to be the cause of familial cancer than a change in a single gene.

The testing that is provided as part of participation in the Coriell Personalized Medicine Collaborative™ study will look at gene changes that contribute to an individual's risk of cancer but WILL NOT look for single genes, such as BRCA1 or BRCA2, known to cause hereditary breast and ovarian cancers or other genes known to cause other hereditary cancer syndromes. If you believe you are at risk of a hereditary cancer syndrome please discuss this with your doctor or a genetic counselor.

nheriting a "cancer gene" does NOT mean you will get cancer

Having a genetic variant associated with cancer does NOT mean that you will definitely get cancer. A genetic variant associated with cancer is simply another risk factor. Just as non-genetic risk factors like smoking or diet impact your overall cancer risk, genetic variants also influence your risk of developing cancer. Knowing that you have a genetic risk and understanding what it means may motivate you to make preventive lifestyle and behavioral changes. It may also encourage you to ask your doctor about other ways to help lower your risk.

Genetic changes can influence cancer treatment

Treatment for cancer is very complex. Two patients with the same type of cancer may respond very differently to the same treatment. While some genes are involved in the risk to develop cancer, other genes are involved in the way our body responds to medicine. Researchers have found gene changes that are associated with a better or worse response to certain cancer-fighting drugs. The CPMC research study hopes to gain a better understanding of the genetic variants that play a role in drug response so that this information can be used to improve the treatment of cancer and other diseases.