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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

Whose Genes Are They?

Image courtesy of NCI

Yesterday a federal court ruled that the breast/ovarian cancer genes BRCA1 and BRCA2 are not patentable, invalidating seven patents for the only diagnostic test for mutations of these genes (BRACAnalysis). [See the New York Times story.]

The ruling has been long awaited and the implications are far reaching. At the heart of the matter is the question of whether patents for the identification of specific gene sequences stifles or promotes genetic research and development.

The case pitted the American Civil Liberties Union and the Public Patent Foundation (a not-for-profit organization affiliated with Benjamin N. Cardozo School of Law in New York) and individual cancer patients against Myriad Genetics and the University of Utah Research Foundation, which holds the patents for these gene sequences.

The ACLU—with amici curiae from the American Medical Association, the American Society of Human Genetics, the American College of Obstetricians and Gynecologists, the American College of Embryology, and the Medical Society of the State of New York—argued that genes cannot be patented and that such patents  restrict both scientific research and patients’ access to medical care. In particular, the plaintiffs argued that the patents constituted a monopoly and prevented women from independently confirming their test results.

Image courtesy of NIH

Myriad argued that without the ability to patent genetic sequences, there is no incentive to genetic investigation and the development of new diagnostic tests.  In the promised age of personalized medicine, such research and development represents not only improved patient care but also a burgeoning industry, in which millions of dollars are at stake. 

This story is far from over yet.  The company plans to appeal the ruling, in the meantime leaving other existing gene-based patents in limbo.

—Kerri Wachter ( @knwachter on Twitter)
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Filed under Genomic medicine, Health Policy, IMNG, Medical Genetics, Obstetrics and Gynecology, Oncology, Polls