From Awareness to Action: A Petition Calling on Myriad Genetics to Free the Data by KJ Surkan, PhD

It’s October again – Breast Cancer Awareness Month – and in 2015 I have to wonder, what exactly does that mean? Is there really anyone left in this country who has not been touched by this disease, who still needs to be made aware of it? The White House went pink on Friday to honor the 1 in 8 women in the U.S. who will develop breast cancer. That is an astounding number of people, and one that does not seem to be diminishing as time goes on. I think it is time to move from awareness to action, and that is why I’ve launched a petition this week (http://chn.ge/1Q7PeAm) calling for Myriad Genetics to share the BRCA data it has been hoarding for the past 11 years.

BRCA Patents and the Price of Genetic Tests

Perhaps some people still are not aware that Myriad Genetics patented the BRCA1 andBRCA2 genes, and made these patents central to its business model by effectively ensuring that it had a monopoly on all BRCA testing from 1994-2013. This monopoly came to an end in the U.S. when the Supreme Court invalidated its patents inAssociation for Molecular Pathology vs. Myriad Genetics. During the period in which it had no competition, Myriad set the price of genetic testing for BRCA mutations, making it inaccessible to most who were uninsured and those whose insurance companies refused to pay for the test. The company is now publicly traded and reported a gross profit of $575.7 million in the 2015 fiscal year.

They also controlled further testing on these genes, including the detection of large rearrangements and deletions in both genes, delaying the introduction of rearrangement testing by several years. This directly and negatively affected the health of low-income women who unknowingly carried a genetic risk of up to 87% of contracting breast cancer, and up to 40% of ovarian cancer in their lifetimes. With the subsequent emergence of competing testing companies (and newer technology), the cost of BRCA testing has dropped dramatically.  Tests are now on the market for $199 (Veritas) and $249 (Color Genomics).

Data Hoarding for Profit

Many people believed that the free market would solve the negative health outcomes of Myriad’s price-fixing once the patents were invalidated and other companies could compete, and this has largely turned out to be true. But Myriad anticipated the end of their monopoly, reasoning that in any case their patent would expire in 20 years (1994-2014 for BRCA1). So the company did something preemptively in 2004 to keep its genetic test competitive as other testing companies entered the market: Myriad decided to stop sharing BRCA genetic data with clinicians and researchers.

By so doing, Myriad has extended its monopoly in a new way, with serious consequences for understanding and even arriving at a clinical interpretation of BRCA variants. Based in large part on more than a million tests it conducted during its US patent monopoly 1998-2013, Myriad has amassed an enormous amount of genetic data. However, in 2004, Myriad stopped sharing its data, and its last major publication extended only through 2006.  Myriad continues to refuse to share data about BRCA variants with open clinical and research databases, ignoring pleas by oncologists, genetic counselors, public health officials, and consumers to contribute to the ongoing research.

In August 2014, Karen Iris Tucker reported on the data-sharing problem for Forward.com, explaining that to make accurate risk determinations for people testing positive for BRCA variants of unknown significance (VUS), vast amounts of data are needed. In her article, Tucker quotes Judy Garber, director of the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute, who says of Myriad, “This is not the way that most genetics work has taken place and the fact that they have data on these variants that are hard to interpret that they have not shared has generally been really disturbing to the medical community.” (http://forward.com/culture/203739/genetics-lab-refuses-to-share-data-that-could-save/)

Data about genetic mutations should not be ‘“trade secrets.” Myriad Genetics has built its business model around data hoarding, aiming to force consumers into using it over other genetic testing companies because they claim their tests are superior in discerning which variants confer risk. Oncologists often feel obligated to order tests for their high-risk patients from Myriad for that reason.

Genetic Testing, Precision Medicine, and the Future

Aside from impacting the fraction of the U.S. population that actually carries a BRCAmutation (myself included), why should we care about Myriad’s data hoarding and genetic testing business model? To answer that we need to turn to precision medicine, and think about what genetic testing will mean for health care in our future.

So let’s talk genetics. A small but significant percentage (5-10%) of breast and ovarian cancers are thought to be hereditary. As oncologists are fond of saying, “all cancer is genetic, but only some cancers are hereditary.” Yet it is through studying the genetics of hereditary cancer that we are making progress in understanding key elements of this disease, and beginning to identify new treatments like PARP inhibitors that exploit mutations in tumor cells, whether somatic or germline. What this means in plain English for breast and ovarian cancer patients is that drugs developed specifically forBRCA+ patients may also help those who are BRCA negative if their tumor has a BRCAmutation, or has what is called “BRCAness,” a biological condition of tumors resembling BRCA1 or BRCA2 deficiency.

These kinds of breakthroughs are the basis of what is now being called “precision medicine,” in which we are moving away from a “one size fits all” model of treatment to a model of targeted therapies. Here is the point – genetic testing is going to play a critical role in this new way of diagnosing and treating cancer, and that is why we have to get this right. We cannot allow greedy corporate entities to put profits before people with the aim of increasing their market share above all else.

To arrive at answers quickly, we need to harness the power of big data, enabling us to discover correlations between genetics and patient outcomes. As more links between genetic mutations and diseases are discovered (and particularly in cases of rare diseases, where the overall number of cases is fewer), data sharing will be critical in establishing accurate assessments of risk and causality. We can’t let a company set this kind of precedent, putting profit before the advancement of knowledge about the relationship between genetic mutation and life-threatening disease.

Please sign and share this petition at http://chn.ge/1Q7PeAm to send that message loud and clear.

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Gratitude to KJ Surkan for sharing this vital information.

“Article Courtesy of ihavelynchsyndrome.com”