Since the posting of this new “informational” PSA from the company that formerly held a patent on BRCA1 and BRCA2, there is growing outrage among multiple HBOC advocacy groups, focused on Myriad’s proprietary database of the BRCA community’s genetic variants. Here is the video:
My first reaction to this video was….
Then I decided to try to back up my reaction in this post with some juicy facts and history, so that regular folks understand the context of this PSA a little better. Two problems with Myriad’s position were pointed out this week by Dr. Heidi Rehm, Assoc. Professor of Pathology at Harvard Medical School:
1. Because Myriad will not share the genetic mutations that they collect from the BRCA community, there has never been any independent validation of their claims of having a high quality database. An invalidated resource is never a good thing in laboratory testing.
2. Myriad uses public databases in their own research yet they are claiming in this PSA that public research data should not be trusted. Here is a specific citation from Myriad’s own publication:
Databases containing whole-exome sequencing data of control populations have recently become publicly available (11, 12). Our laboratory classifies variants as benign polymorphisms if they are present in >2% of a control population with a sample size >200 individuals without significant evidence to the contrary.
These populations primarily consist of families in which hereditary cancer-predisposing syndromes are not indicated. Our laboratory also uses a comparative approach to statistically evaluate the affected population tested at our laboratory against control populations. A variant present in statistically equal frequencies in the two populations is considered benign. A variant enriched in the affected population is evaluated further for potential causality but is not reclassified on these data alone.
So essentially they are catching themselves in a lie!
There are other problems with this “informational PSA” beyond what Dr. Rehm points out. Here are the problems I see from where I’m sitting:
- Genetic profiteering. I struggled for a long time to find the right word for what Myriad is doing. Then I came across the term “genetic profiteering” and it helped me to articulate the seriousness of Myriad’s actions in a different way. It’s kinda like war profiteering.
You see…even though last year’s landmark Supreme Court ruling was a huge step forward for the BRCA Community, Myriad has a proprietary database of patients’ genetic mutations. In 2005, the company adopted a deliberate policy to stop contributing variants to ClinVar, so that other researchers could evaluate the the harmfulness of mutations that they find. In Myriad’s Q3 2014 Earnings call to investors, Scott Gleason VP of Investor Relations boasted, “Our competitors’ reliance on public databases with high VUS and error rates will further restrict patient access to this life-saving medicine.” Myriad uses this proprietary database to keep other labs from competing against their test, and that competitive edge results in lives and futures at stake.
- Real harm to patients. The problem with this is that patients are directly harmed by Myriad’s data sharing practices because patients do not have a way to verify the accuracy of test results issued by Myriad to patients. As David Dessert, a pancreatic cancer survivor who carries a BRCA2 mutation states: “This reminds me of the paper encyclopaedia makers decrying Wikipedia when it first arrived on the scene.” Perhaps the difference here is that if Myriad is delivering clinical information to patients, that information sure as hell better published transparently. You can’t just walk around saying, “I have data which means you may or may not get cancer – but you can’t see how I arrived at that conclusion.” I really like the way Bob Nussbaum, chief of the division of genomic medicine at UCSF breaks it down:
- Obstacles to better options. For a couple years now, I have been saying over and over that I want smarter options to screen for, treat, and prevent cancer. I want better information for people who carry these mutations. If someone tests positive for a BRCA1 mutation, they are told that they have up to an 87% chance of getting breast cancer, and up to a 60% chance of getting ovarian cancer in their lifetime. Yet with thousands of mutations (including benign variants) on BRCA1 and BRCA2, Myriad is holding patients back from knowing more about their variant so that they can make more informed decisions. Having access to this data could mean that patients could better understand the outcomes specific to their mutation. This could mean that younger women could better know what age is right for them to consider prophylactic surgeries.
This company is the primary contributor to the problem they cite in the video by not committing to ethical data sharing practices. Ironically, the person responsible at the FDA for overseeing the accuracy of test results makes no mention of Myriad’s data hoarding practices in his blog post this week.
So in conclusion, I will patiently present the case of why this is wrong until more people listen. And I will continue to focus my energy on efforts to free the data.