Tag Archives: Genetics

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

A Library, and So Much More

National Library of Medicine photo by Miriam E. Tucker

Over the four days I spent at the National Library of Medicine with five other health journalists, I didn’t see a single book until the last day.  And even then, it was only during an optional tour of the building’s underground “stacks.” But of course, the NLM is no ordinary library.

During a fellowship sponsored by the Association of Health Care Journalists, the six of us spent most of our time in front of computer screens, learning about the library’s vast array of resources for the healthcare community, scientists, librarians, students, the media, and the general public.

The NLM, which turns 175 years old next year, houses more than 16 million records from more than 5,000 journals. More than 35 million unique individuals visit the site each year, posing more than 1 billion searches to the online literature search engine Pubmed/Medline.

But, as we learned, NLM is much more than medical literature. We received hands-on training in the use of amazingly comprehensive databases on genetics and toxicology that are designed for use by the research and clinical communities as well as the general public, along with a cool new site – still in beta – that helps consumers identify pills.

In a session on NLM’s ClinicalTrials.gov database, the site’s director Dr. Deborah Zarin spoke at length about the impact of the Food and Drug Amendments Act of 2007, which mandated trial registration and complete data reporting to Clinicaltrials.gov of all post-phase 1 interventional studies involving drugs, devices, and biologics approved by the Food and Drug Administration.

ClinicalTrials.gov director Dr. Deborah Zarin photo by Miriam E. Tucker

The new transparency means that companies and other research entities can no longer cherry-pick their data to reflect the most favorable outcomes or simply choose not to report a study with negative findings. Had this law been in effect 10 years ago, the debacles involving suppression of trial data on COX-2 inhibitors and the diabetes drug Avandia might never have occurred. Or at least, the arguments would have been more easily settled.

“That’s how science should be. It would [have been] easier to debate if it [had been] all there in the public record,” Dr. Zarin said.

We spent two sessions learning how to mine data from PubMed.gov, a resource I use nearly every day but, as I learned, I hardly knew at all. Everything we were taught—by enthusiastic and engaging medical librarian Kathi Canese—is available in online tutorials. Users must create an account for many of the customized search features but it’s free, as is all of NLM’s content. (Our taxes pay for it.)

Historical books collection housed underground at NLM / photo by Miriam E. Tucker

The fellowship was coordinated and led by NLM senior staffer Robert Logan, Ph.D., a former journalism professor. He told me, “This place really is the home of medical informatics around the world. This is also the home of computational biology…We love books, but nevertheless the folks here have realized that leadership as a great library is much more than that.”

-Miriam E. Tucker (@MiriamETucker on Twitter)

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Filed under Drug And Device Safety, Family Medicine, Genomic medicine, Health Policy, IMNG, Internal Medicine, Medical Genetics, Pediatrics, Practice Trends, Primary care, Uncategorized