BRCA gene datashare will help detect cancer risk
A first-of-its-kind genetic datashare program is being launched to zero in on patients with unclear BRCA test results — and save more women from the devastation of breast and ovarian cancer.
U.S.-based Quest Diagnostics announced Tuesday that it is pairing with Inserm, the French public health institute, to launch BRCA Share. The goal: provide scientists and labs around the world with open access to BRCA1 and BRCA2 genetic data and improve the ability of diagnostic labs to predict which individuals are at risk of developing hereditary breast and ovarian cancers.
The benefits could be exponential, says Charles Strom, senior medical director of genetics for Quest, a diagnostic information service. "If you had a clean test at Lab B, they might tell you that it's benign," Strom says. "But it might not be."
Under the datashare program, you have more eyeballs from various scientists and labs looking at your test result, Strom says. That leads to consistency and a more conclusive result, he says.
Strom also says that as genetic research advances, what was a fuzzy result at one point might come into better focus. "A year later a paper is published and (researchers) have found the variant is causing your cancer," he says.
BRCA1 and BRCA2 are genes that if inherited in a mutated form could predispose some carriers to develop breast or ovarian cancer.
BRCA testing came under the spotlight last month with the announcement by actress and filmmaker Angelina Jolie, 39, that two years after undergoing a preventative double mastectomy she had her ovaries and fallopian tubes removed because of having the BRCA1 gene. A benign tumor had been found on one ovary, and Jolie continues to take hormone replacements. Her mother died at 56 from ovarian cancer.
BRCA Share is a public-private initiative that pools patient data. Although there are clear mutations of BRCA1 and BRCA2 genes that are established as cancer-causing, there are instances when a patient receives an indeterminate result because the individual's genetic information reveals a gene variant of uncertain significance, Strom says.
"It's all about the patient," says Marcia Eisenberg, chief scientific officer and senior vice president for U.S.-based LabCorp, which will be the first participant in the program. With a wider database and more follow-up studies, the goal would be a day in which more and more variants that are tested can be identified as ones that are harmless or ones that put a patient at risk for cancer. "Knowledge is the No. 1 benefit," she says.
Strom expects labs around the world to join in the initiative.
Patient advocate Sue Friedman applauds the move. "We are thrilled about the concept. We have long been supportive of sharing data," says Friedman, founder of FORCE, a group that advocates for individuals and families with hereditary cancer. Friedman was diagnosed with breast cancer at 33 and later tested positive for the BRCA2 mutation.
The general population lifetime risk for ovarian cancer is about 1 in 70 or 1%-2%, but that is elevated to 10%-45% in women with BRCA1 or BRCA2 mutations, according to Deborah Armstrong, professor of oncology at Johns Hopkins Kimmel Cancer Center in Baltimore.
"It's hard enough to know that you are high risk," says Friedman, who emphasizes the need for genetic counseling before and after genetic testing. "But without a definitive result" patients are left in limbo.
Color Genomics will also offer genetic screening for breast and ovarian cancer with a test on a sample of saliva, according to The New York Times.
Follow Susan Miller on Twitter: @susmiller