Tag Archives: genome

Genomic Sequencing: Where Science and Law Collide

Have law and policy ever been able to keep up with scientific discovery and innovation?  When some hominid first discovered how to ignite a fire, there was probably a lawyer on hand to extinguish it because it infringed on an ingenious technique for using a couple of sticks to make smoke.

Microarray (gene chip), image courtesy of NHGRI

Eons later, we haven’t made much progress in keeping our legal system in pace with the exponential advances of science and technology.  Even as our courts are addressing the vexing question of whether specific genes — and the analysis of those genes — can be patented, the ability to commercially sequence an individual’s whole genome is rapidly advancing.

I had a chance to talk with Dr. Lynn Jorde, who is president-elect of the American Society of Human Genetics, at the society’s annual meeting.  He pointed out to me that Myriad Genetics‘ patent of BRCA1/2 genes prevents all uses of the information that the genes contain. Essentially, if a a physician or geneticist has knowledge of a BRCA mutation that puts a patient at increased risk of breast and ovarian cancer, he or she can not disclose this information under the patent.

If the Myriad test is the only way to determine the presence of such mutations — forgetting the issue of second opinions — maybe it’s not such a big deal.  Suppose, however, that the patient’s whole genome has been sequenced … from which one could “see” the presence of the mutations.  Under the law, a physician can’t make a diagnosis, tell the patient or start the patient on treatment.  As ASHG wrote in its amicus brief in the Myriad case:

By staking claims on all isolated versions of the BRCA1 and BRCA2 genes, Myriad effectively controls all of the naturally occurring BRCA1 and BRCA2 breast cancer genes from everyone‘s bodies. No woman (or man) can give her (or his) own breast cancer gene to a doctor or researcher to analyze for purposes of diagnosis or research, because once that gene is removed from the body Myriad‘s patent claims cover it. No clinician or scientist can perform diagnosis or research using such gene sequences or the information they contain without violating the patents.

Yet every physician essentially takes an oath to treat disease and illness … not to mention sharing medical research.  Talk about caught between a rock and a hard place.

Of course, personal genomic sequencing is still a ways off for most people, Ozzy Osbourne notwithstanding. For now, Myriad’s patents for BRCA1/2 are invalidated but that court decision is under appeal.  At the end of October, the New York Times reported that the U.S. Department of Justice has weighed in on the decision by filing an amicus brief that essentially supports the idea that genes are not patentable. Only time will tell how things will shake out in this case … or what it will mean for many other gene patents on file at the USPTO.

Ironically, Dr. Jorde — who got me thinking about all of this — works for the University of Utah, Salt Lake City, a joint plaintiff with Myriad, in the case.

Kerri Wachter

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Filed under Family Medicine, Genomic medicine, Health Policy, IMNG, Internal Medicine, Obstetrics and Gynecology, Oncology

What’s So Hot About GWAS?

Image courtesy of NIH

Image courtesy of NIH

From the National Cancer Institute’s Science Writers’ Seminar, Gaithersburg, Md.

If you’ve read any medical literature or been to a medical meeting lately, chances are that you’ve heard of GWAS—genome-wide association studies.  GWAS are hot and with good reason. Genetic studies of the past have been limited either to looking at linkages among related individuals or to the candidate gene approach, which directly tests the effects of genetic variants of a potentially contributing gene—already believed to play a role in a disease—in an association study.

With GWAS, researchers are now able to scan markers across the genomes of thousands of individuals and to identify genetic variation associated with a particular disease. The approach allows researchers to identify candidate genes that were previously unknown and may even occur in long stretches of noncoding—-or unexplored—regions of DNA. This approach has already been put to use in disorders as disparate as autism, type 2 diabetes, and inflammatory bowel disease. Just within oncology, GWAS have identifed 15 new candidate SNPs (single nucleotide polymorphisms) for prostate cancer, 12 for breast cancer,  and 10 for colorectal cancer.

Researchers can barely contain their excitement with this amazing new tool. But—and you KNEW there was a but—it will be quite a while before the research translates to useful information for physicians and patients like improved risk models, screening tests, or novel targeted drugs.  GWAS have to go through several iterations just to determine whether the initial candidate SNPs identifed are not merely statistical figments of the imagination. Then, once you have “real” candidate SNPs, what do you do with them? You have to figure out what they mean: Do they play a role in etiology or gene-environment/lifestyle interactions? Are there druggable targets? What, if any utlity is there for risk prediction?

Yes, GWAS hold great promise, but today they are just the begining of the begining.

—Kerri Wachter
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Filed under Endocrinology, Diabetes, and Metabolism, Gastroenterology, Medical Genetics, Obstetrics and Gynecology, Oncology, Pediatrics