You Don't Own Me Anymore, Myriad!

I know I've been blogging a lot recently, but there's been a lot of BRCA news to report on. Last night, a story equivalent to the Pitt-Aniston divorce rocked the genetics world, and I'd be remiss not to mention it today...

When I was tested for the BRCA mutation, and my results came back positive, I was not able to get a second opinion. That's because, in the U.S., only one company offers the test: Myriad Genetics, based in Salt Lake City. Myriad has patented the BRCA1 and BRCA2 genes, and these patents gave Myriad a monopoly on testing for deleterious mutations in these genes. In the absence of competition, the company charged $3000 for screening tests -- a expense that put this test far outside the reach of many men and women who could have benefited from the results.

But all that changed yesterday.

A federal court nullified Myriad's patents. Last May, the American Civil Liberties Union and the Public Patent Foundation filed suit against Myriad, charging their patent on the BRCA genes was unconstitutional. (I wrote about the lawsuit back in May 2009.) And yesterday, a federal judge agreed. The whole 152-page ruling can be found here, and here are links to analysis of the decision written by people with a more complete understanding of patent law, intellectual property, biology, and genomics than I have:

New York Times: Judge Invalidates Human Gene Patent

Wired: Judge Nullifies Gene Patents

NPR: Federal Judge Rules Against Patents On Human Genes

Newsweek: In Surprise Ruling, Court Declares Two Gene Patents Invalid

Los Angeles Times: Breast cancer genes can't be patented, federal court rules

I say this is the equivalent of an unexpected high-profile celebrity divorce in the BRCA world because this ruling -- if it stands, and it looks like it will be appealed -- will CHANGE EVERYTHING about the way men and women learn about their BRCA status. It is likely that the test will now become more widely available, which will drive the cost down. Which is, of course, a wonderful thing. But I wonder about the other not-so-beneficial consequences (and please don't accuse me of suffering from Stockholm Syndrome, in which I grow attached and sympathetic to my kidnapper). Will the quality of testing go down? And will the test be made available to people who don't need it? Myriad has already begun airing direct-to-consumer advertising in the selected regions; the spots use that tried-and-true formula common to many pharmaceutical ads -- "Ask your doctor if you are at risk for high blood pressure and see if Lipitor is right for you" -- and turn it on its head -- "Be ready against cancer." The problem is that this kind of advertising discourages genetic counseling, since the blood draw can be handled by your primary care physician. But genetic counseling is ESSENTIAL to anyone seeking to understand their genetic predisposition to disease; a Myriad-sponsored pep talk by your PCP will not prepare you for the impact of a positive result.

(In fact, true story: when I originally learned there was a genetic mutation in my family, I went to my PCP to discuss how to proceed. She basically brushed me off, said she didn't know much about it except that it was exceedingly rare, and that I shouldn't worry too much about it. Fast forward to December 2009. I'm in her office for presurgery testing. She tells me she thinks I'm brave and that I'm the only person in her practice to be a BRCA mutation carrier. But what do I spy on the shelf behand me as she swabs my nostrils for the MSRA screening? A stack of testing kits from Myriad. This woman who knew nothing about the BRCA gene is now offering to test for it. I shudder to think the damage receiving positive results from someone like her would inflict on a women at such a vulnerable moment.)

But perhaps I'm conflating two different problems. Perhaps quashing the Myriad monopoly will cause direct-to-consumer marketing to cease. And I'm certainly not saying Myriad should be able to patent our genes. I applaud the ruling. It's really an incredible breakthrough. But I'm not completely clear on what effect -- though I know it will be cataclysmic -- the judgment will have on the way Americans receive their genetic test results. And, of course, this case will change the way all genes -- not just those associated with breast and ovarian cancer -- are patented (and about 20% of genes have been patented). So this case is incredibly important. And it's definitely a step in the right direction. Hopefully this will open avenues for further research on the gene and spur advancement in treatment and prevention of hereditary cancers. I just hope we get all of the good without any of the bad.