Mar 31, 2010

Multiple Common Variants for Celiac Disease Influencing Immune Gene Expression 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 <>

Mar 26, 2010

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

Mar 22, 2010

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.

Mar 18, 2010

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

Mar 15, 2010

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

Mar 12, 2010

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.

Mar 10, 2010

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.


Mar 4, 2010

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 preƫmptive 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.

Mar 1, 2010

Pharmacogenomics: Personalized Medicine at the Corner Drugstore,, 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