A database of cancer-causing gene mutations is being gathered from tens of thousands of women in a pact between a U.S. testing company and French researchers to better predict deadly breast and ovarian malignancies.
Quest Diagnostics Inc. and the French National Institute of Health and Medical Research, known as Inserm, will pool gene-testing results from their own databases and from Laboratory Corporation of America Holdings, the biggest diagnostics company in the U.S., Quest said Tuesday in a statement.
The consortium will open up to researchers and companies the sort of information that at one time was tightly guarded by Myriad Genetics Inc. Myriad for years had patents on the genes, BRCA1 and BRCA2, preventing other diagnostic companies from selling tests. Both Quest and LabCorp now offer their own tests.
Mutations to BRCA1 and BRCA2 can raise the chance of cancer. Yet scientists don’t know exactly how each of many possible mutations increase risk.
“These genes are very large and they have a very high frequency of variants -- any individual will have between two and eight variants,” said Charles Strom, Quest’s vice president of genetics and genomics. While most mutations are benign, “it’s quite frequent we find a rare variant that hasn’t been seen before or has only been seen one or two times.”
By pooling data with LabCorp and Inserm, which has its own mutation database with a decade’s worth of patient information from 16 laboratories in France, Strom hopes that the group can better understand which genetic variants are harmful or benign.
It could also upend the market for testing of the genes, said Michael Cherny, an analyst with Evercore-ISI. “This data collaboration also presents a challenge to Myriad,” Cherny said. Myriad shares fell 4.9 percent to $32.59 at 9:38 a.m. in New York.
The shared data will be kept anonymous, though LabCorp and Quest will be able to contact customers through their doctors when gene variants of interest are identified, to ask if the patients would consent to be studied, according to Strom.
Ideally, patients’ families would also agree to have their genes tested, so researchers could track how the mutation has been inherited and draw conclusions about how harmful it might be. If family members who carry the rare variant didn’t have cancer, the variant would likely be benign, for instance.
“Hearing, ‘You have high risk of cancer’ is devastating, but for those who receive an inconclusive result, hearing ‘You may have high risk, but we’re not sure,’ can be worse,” said Sue Friedman, executive director of the patient advocacy group, Facing Our Risk of Cancer Empowered, in the statement.
The tests may become more popular as consumer awareness of genetic risk increases and sequencing costs decrease. Color Genomics, a Silicon Valley startup, on Tuesday announced a $249 saliva test for 19 genetic variants known to be correlated with a higher risk of breast cancer or ovarian cancer, including mutations in the BRCA1 gene. Color is backed by investors including Khosla Ventures and Laurene Powell Jobs, widow of Apple Inc. co-founder Steve Jobs.
Using large pools of patient data to find patterns in rare genetic mutations is gaining traction in health care, helped by falling costs of sequencing, improving technology that allows for the storage and study of large data sets, and rising consumer interest in gathering personal health data.
President Barack Obama has asked Congress for $215 million to create a cohort of a million volunteers whose genetic and health data can be used to develop personalized medicine.
The creation of such a database is overdue, Strom said. Previously, Myriad held patents on the BRCA genes and had a virtual monopoly on the data until a federal appeals court ruled that Myriad couldn’t block competitors’ DNA tests.
Strom declined to say whether Myriad had been invited to join the database project.
“We’ve begun to reach out to a number of entities and are fielding strong interest, but we cannot name the parties at this point,” he said. “We will not turn away any laboratory so long as they’re willing to share their data.”
(An earlier version of this article corrected the price of the kit in the 10th paragraph.)