ASPIRINA...ma non per tutti

(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:

1. Avete un'allergia all'Aspirina.
2. Avete una bassa capacita' di coagulazione e sanguinate facilmente.
3. Avete avuto emorragie recenti nel tratto gastro-intestinale.
4. Avete una patologia al fegato.
5. 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

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

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?

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

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

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

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

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

(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

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

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

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

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

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

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.

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

$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

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

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

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