Genetics Lab Refuses To Share Data That Could Save Lives

Why Myriad Genetics Hoards Its Information About BRCA Mutations

Free the Data: Andrea Downing has a BRCA mutation and speaks out against Myriad.
Lisa Stone / Breast Cancer Action
Free the Data: Andrea Downing has a BRCA mutation and speaks out against Myriad.

By Karen Iris Tucker

Published August 12, 2014.

Myriad Genetics may have lost its singular hold on the market for BRCA1 and BRCA2 testing in May 2013 when the Supreme Court ruled against the patenting of genes, but few outside the science and medical communities are aware that Myriad continues to possess a repository of patient data from BRCA testing that it does not share with researchers outside its own lab.

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After testing for a genetic mutation related to BRCA, some people — around 3 to 7% of cases — receive the result “variant of uncertain significance.” This indicates that the lab found a genetic change that may be linked to cancer risks but was unable to determine whether the gene change is a “deleterious change,” which increases the risk for cancer, or a variant that does not. Until the Supreme Court ruling which allowed other labs to begin conducting BRCA testing, Myriad had been for 16 years the sole commercial provider in the United States collecting those variants, which are important tools for interpreting results. It stopped contributing those results to the public database Breast Information Core, the largest database for BRCA mutations, in 2004.

Research by Karen Iris Tucker and Rachel X. Landes

Together, BRCA1 and BRCA2 mutations account for about 20 to 25% of hereditary breast cancers and about 5 to 10% of all breast cancers. Researchers are now studying these less common variants that have emerged in genetic testing to try to understand if they’re inherited and if they cause cancer. To prove cause and effect, large amounts of data are needed — thus, the dire need for the variants Myriad has been collecting.

“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,” said Judy Garber, director of the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute.

Myriad said it stopped contributing its data to BIC in 2004 because the database lacked operational and clinical standards, was subject to funding cuts, and could not handle the volume of data Myriad was contributing.

“When the data gets put in the database, there are no standards for who puts it in — the level of expertise required to actually contribute to the database,” said Rick Wenstrup, chief medical officer of Myriad Genetics. Wenstrup contends that BIC was only ever intended to be a research database and was never meant to be used to make clinical classifications. He said the fact that other researchers and laboratories do so places patients at risk.

“The data they are relying on are not curated data,” he said.

As a matter of policy, Wenstrup said Myriad does not use any publically available databases that contain clinical information and clinical classification of specific variants. This includes a newer database called ClinVar, launched in April 2013 by the National Center for Biotechnology Information.

When asked about Myriad’s contention that public databases aren’t clinic-ready, Dr. Erin Ramos, an epidemiologist in the National Human Genome Research Institute, did not comment on the issue but instead appealed to the research community’s greater benefit. “In order to achieve the promise of genomic medicine and to ensure transparency, these findings must be annotated and made available to the research and clinical communities,” she said.

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