Myriad tries to spin genetic profiteering with informational “PSA”

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:

Unregulated Public Genomic Variant Databases: What everyone should know from Myriad Genetics on Vimeo.

My first reaction to this video was….

Wat!

 

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:

Population frequency

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.

Genetic 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.

 

11 Comments

  1. Same reaction. WAT. I support BRAVE BOSOM’s position.
    @BRCAresponder

  2. Great post. Myriad Genetics continues to show that they cannot be trusted. They had 15 years to develop ethical relationships with patients and doctors, and they failed in a spectacular fashion. Now, rather than change course, they continue to cling to the vestiges of their former monopoly. This video is just a logical train wreck.

  3. Bob Cook-Deegan June 30, 2014 at 5:08 pm

    Andrea,

    Thanks for drawing attention to this. I don’t actually care so much about the price. The main problem–and I think truly everyone agrees–is that we need to have the best information available to interpret the clinical significance of genomic variants. From Myriad’s perspective, they spent $100M to develop their database and don’t want to give it away for free. That’s a matter for discussion, and I suspect continuing conflict among those who care about BRCA testing.

    But dissing public databases is not just pointless, it’s destructive. We *all* need those public databases to work well. Dissing databases as a way to get at your competitors was a poor tactical decision, in my view.

  4. Hi Bob,

    Thank you for taking time to comment! One of the things I struggle with is how fast and cheap gene sequencing technology is going to become. Is a fair price being charged for the test? Or is it better for patients (and for the market) to offer a cheaper, accurate, faster, and more reliable test? Could offering a more accessible test to a wider population give us better and more accurate information for the individual?

    Perhaps for now it’s best to focus on what you point out – that dissing public databases is destructive and irresponsible when Myriad cites public data in their own research papers.

    – Andrea

  5. I was totally okay with Myriad holding a patent on my gene… so long as they were willing to pay all of my medical bills. I mean, if they have the patent, that means they are responsible for ALL of us. (And yes, that is sarcasm)

  6. Bob Cook-Deegan July 4, 2014 at 5:55 pm

    Sequencing technology is indeed getting way cheaper, and after an interlude of a few years in the “hyper-Moore’s Law” drop in price and increase in speed, prices are dropping again as Illumina’s technology is bumping up against nanopore and other even cheaper methods. We are probably at or near a tipping point where generating the data is no longer the rate-limiting step. The next choke-points are data access and interpretive algorithms and methods. Those are going to remain expensive and complex for years until we have enough data and enough systematically vetted methods and services; but eventually those will also go the Way of the Web and get automated and relatively inexpensive.

    But here’s the kicker. For the foreseeable future, sequencing and interpretation are generally part of the medical system, and that means the cost of people services are bundled with the data-generation and informatic interpretation. So at least until the whole world understands genomics, genetic counseling and help understanding this stuff will be essential components. And those prices will only go up. That’s the nature of medical services; they are expensive and don’t ever get cheap because they are people-intensive. We may already be at the point where those costs are the more important drivers of overall cost to “patients” or “consumers” than sequencing and informatic analysis.

    In genetic testing, a lot of the costs come from keeping track of samples, lab quality control, making sure information gets where it needs to go, and connecting the information to the people who deal directly with patients. A lot of that won’t get cheaper.

    That said, though, we are not anywhere close to price being close to marginal cost of production, which is where economists tell us a product should be priced in a well-functioning market. This market sucks. Most markets for medical services are just as bad. (The market for generic pharmaceuticals is one of the rare exceptions where price competition happens, and even there it is not consistent.)

    So keep pushing. We’ve got a long way to go before we have a robust scientific and clinical commons to interpret genomic variation, and a very very long way to to before this information is as widely available as it should be, and perhaps eventually will be.

    BCD

  7. stephen guzzi July 10, 2014 at 3:42 pm

    Wow. That video is crazy. I think they must have both paid that doctor a huge amount of money and slipped something in her drink (her pronunciation at certain points is a little weird, no?).

    Has anyone investigated whether Myriad’s private database violates HIPAA (Health Insurance Portability and Accountability Act)? I’m not intimately familiar with the details of HIPAA, but I think it requires health care providers (which I assume would include Myriad?) to “reasonably limit uses and disclosures [of medical information they receive] to the minimum necessary to accomplish their intended purpose.” In other words, I think it would be a clear violation if they receive information on variants while providing medical care to a specific individual but then retain this information indefinitely and incorporate it into their general business plan. I’m not sure how this dynamic would change if they are forcing patients to sign over thier variant information, but then again I’m not sure if HIPAA even allows them to do that.

    http://www.hhs.gov/ocr/privacy/index.html

    http://www.hhs.gov/ocr/privacy/hipaa/understanding/consumers/index.html

  8. Steve – This is a great suggestion! I’m not really familiar with how it works either but I will ask around and check out these links. Thank you!

    • stephen guzzi July 10, 2014 at 4:45 pm

      Maybe you can convince EPIC (http://epic.org/) (electronic privacy information center) to file a complaint against Myriad for any potential HIPAA violation. They are all about taking action against companies for abusing personal data. They recently filed a complaint with the FTC re Facebook’s mood manipulation experiment, and have a long history of getting results from pursuing similar complaints. (Full disclosure: I took a privacy law class taught by Marc Rotenberg, the guy who appears to be in charge of EPIC).

  9. Do any of you realize that if there is no money to be made in an industry- whether it be genetics, medical device, or pharma- then there will be no effort or resources put into research and development. 90% of the R&D in this country (and the world) is done by private companies. The work that academic institutions, nonprofits, and the government do pale in comparison. No money = no progression in healthcare. No one wants to pay $50 for a new branded drug. I get it. But what you are paying for that one prescription has to make up for all the millions of dollars that the pharma company spent researching that and other medications that never even make it to market. They are a business, like every other industry in America. If you are happy with generics for the rest of your life, then that is fine. I, on the other hand, would like to have something that works better with less side-effects in 30 years. But for that to happen, there has to be money and opportunity for the private companies. I doubt you or anyone you know work for free.

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