Genetic testing giant Myriad Genetics of Salt Lake City, UT has promised to begin sharing previously held classifications of variant data in the public CLIN Var database in the spring of 2023. Their first quarterly submission to ClinVar will include the release of 10,000 genetic variants.
Why is this news important? To understand this sea change, you need to understand Myriad’s history over the past 28 years. Myriad genetics was founded as a start-up company in 1994 by scientists from the University of Utah. Unbeknownst to most clinicians and scientists working on hereditary breast and ovarian cancer, Myriad has applied for and been granted patents on the human genes BRCA1 and BRCA2 – a shock to many in the field who knew that isolating and sequencing these breast and ovarian cancer genes was a team effort involving scientists around the world collaborating and sharing their findings, as well as patients and families those who shared their DNA and family stories in the common pursuit of finding these genes and making genetic testing available. It’s worth noting that much of this work was supported with national grant money — meaning your taxes paid for much of this research.
And yet, a few years later Myriad began to impose their patents in a new way on the world of genetics. They tried, with great success, to shut down every other workshop in the world that had shows BRCA test. Most complied. Its price BRCA1 and BRCA2 testing began to increase, even as the cost of the technologies plummeted. Clinical research has become more expensive. Filmmaker Joanna Rudnick famously interviewed Myriad founder Mark Skolnick about Myriad’s controversial patents, advertising and ever-increasing prices in her film, “In the Family.” Skolnick admitted that he had promised prices would go down and instead they went up (3:39).
Thousands of clinicians, scientists, patients and advocates around the world believed that a company should not be able to patent human genes. Many wanted these patents dropped. On June 13, 2013 in a lawsuit led by the ACLU (disclosure: I was a planter in this case), the Supreme Court stated that “a natural segment of DNA is a product of nature and is not patent-eligible simply because it has been isolated .” With this ruling, Myriad Genetics lost its monopoly, and more than 6 other labs began offering high-quality BRCA testing at lower prices, many within hours of the ruling. Competition and innovation flourished, more patients could afford the tests, and clinical research soared. (For these reasons it is hard to imagine why Senator Thom Tillis would now propose reinstating gene patents.)
Without the BRCA patents, Myriad began to protect another monopoly: they had a large confidential database of their patients’ gene variant data. During their more than 15-year monopoly, Myriad had collected data on which genetic variants caused disease and which were probably benign. Other labs that began offering BRCA testing would find genetic changes or variations in the genes, but they couldn’t always determine whether the change was harmful or meaningless. These laboratories were therefore more likely to report the change as a variant of unknown significance (VUS) to the referring clinician. Unfortunately, many clinicians treat these VUS as disease-causing variants in the gene, recommending prophylactic surgery in patients that is not warranted. So, in real terms, this meant that some patients were having healthy breast tissue and ovaries removed when it wasn’t needed. It also meant that in a smaller proportion of families, the genetic changes were classified as VUS when they were actually causing disease.
Myriad knew that not sharing patient data could harm patients whose clinicians chose to use a laboratory other than their own. In fact, they bragged about it in their earnings reports, referring to a precision medicine that can be used in people who are BRCA carriers, saying: “Our competitors’ reliance on public databases with high VUS rates and errors will further limit patient access to this life-saving medicine.”
Yeah that’s right. Myriad kept their data a “trade secret,” hoping it would differentiate them from the pack and maintain market share — even as they acknowledged the decision would hurt patients whose tests were done through other labs. You can see why geneticists, clinicians, and patient advocates loathed Myriad Genetics. Many of us stopped using Myriad genetics the day after the Supreme Court decision and never went back.
For the past 25 years I have been one of Myriad Genetics’ loudest, harshest and most public critics. I took down their gene patents, their terrible advertising and their hoarding of patient data – which, I still maintain, belonged to the patients, not them. So earlier this year, when a colleague told me that Myriad had hired a new CEO and was creating new goals, standards and culture for the company, I rolled my eyes. And yet, a small part of me felt hopeful. Could Myriad, a company I’ve hated virtually my entire working life, really turn around? And what if they did?
Some will argue that Myriad sharing their variant database is no longer a big deal. Competitive workshops have offered BRCA testing for nearly a decade, collecting and sharing their own data and RNA testing have helped labs determine which variants cause disease. However, Myriad had a 15-year lead, excellent scientists and in-house programs to help decipher these variants. They also held much of its market share BRCA trials, even after losing their patents. So yes, their database of variants is still very important – especially if you are the patient who learns that the variant in your family has been sorted.
A real-life example of the power of sorting variations made headlines last year when tennis legend Chris Evert shared her own personal story. Evert’s sister was diagnosed with ovarian cancer, he learned she carried one BRCA variant of uncertain significance and later died of her disease. Her BRCA The variant was found to cause disease last year and Chris Evert learned she carried this variant. In an attempt to reduce her risk of developing ovarian cancer, Evert had her ovaries and fallopian tubes removed as a precaution – only to learn she already had early-stage ovarian cancer. Learning about her variant classification probably saved her life.
There are a lot of Chris Everts out there. People with VUS in their family who are either unaware of their finding undergo surgery because they and their clinicians assume their VUS is causing the disease, or people who are stressed about not knowing what to do with their results for themselves and their family members. Hundreds or thousands of those people may finally get the information they need through this Myriad decision.
Can a billion dollar company like Myriad Genetics change their company ethos and value system 25+ years in the game? And how will this change affect the company’s profitability? At a time when many genetic testing and precision medicine companies are struggling, I believe that finally doing the right thing for patients and their families will not only benefit those families. I believe it can begin to correct Myriad’s long and storied reputation and position it as a leader in the world of precision medicine that cares not just about the latest earnings report, but about doing the right thing. And, in a move that would have been unthinkable under previous leadership, I believe this decision will lead to further financial success for Myriad.
We’ll be watching, holding Myriad fully accountable, and hoping.