Mail-In Test Puts Genetic Screening Within Reach
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Mail-In Test Puts Genetic Screening Within Reach

Home screening kits making BRCA testing increasingly affordable for women paying out of pocket.

Silicon Valley star Elad Gil’s new genetic testing company, launched Tuesday, has intensified the already noisy conversation about Ashkenazi Jews’ higher-than-normal risk for breast cancer.

Gil’s firm, Color Genomics, offers a mail-in saliva test that costs $249, cheap enough to enable many women to pay out of pocket instead of relying on an insurer to pick up part of the bill, according to the company’s website.

Users request a kit online and then send in their sample, which is tested for mutations in the BRCA1 and BRCA2 genes, as well as 17 other cancer-risk genes. Results include an analysis of the 19 genes and a genetic counseling session.

Gil holds a Ph.D. in biology from MIT and has worked at both Google and Twitter. In addition to serving as CEO of Color Genomics, he is also a self-identified “startup helper” advising such companies as AirBnB, Square, Stripe and Pinterest, according to his LinkedIn Profile.

Gil’s company hits the market soon after Professor Ephrat Levy-Lahad of Shaare Zedek Medical Center recommended in September in the journal Proceedings of the National Academy of Sciences of the United States of America that all women of Ashkenazi descent be screened starting at age 30 for the BRCA gene mutation.

One in 40 men and women of Ashkenazi Jewish descent carries a BRCA gene mutation, as compared to 1 in 345 in the general population, “significantly increasing the risk of hereditary breast and ovarian cancer in Jewish families,” said Elana Silber, director of operations at Sharsheret, a support organization for Jewish women facing breast and ovarian cancer.

Movie star Angelina Jolie has also brought attention to the issue of BRCA testing by writing in The New York Times, first two years ago and then in March, about her decision to remove her breasts, ovaries and fallopian tubes because she carries a mutation in the BRCA1 gene. Jolie is not Jewish.

Typically, Ashkenazi women are tested for the mutations in the event of a risk factor like a close blood relative with breast or ovarian cancer. Levy-Lahad’s study revealed that many carriers wouldn’t have had reason to test because they inherited the mutation from their fathers.

Part of Color Genomic’s mission as stated on its website is to “democratize access to high-quality genetic information,” even for those whose testing might not routinely be ordered by a doctor or covered by insurance.

Sharsheret recommends that women with questions about their cancer risk talk to a health professional and also call the organization, where they can talk confidentially with trained counselors.

Mary-Clare King, a geneticist from the University of Washington who discovered the BRCA1 gene, and who contributed to Levy-Lahad’s report, is one of Color Genomics advisors. Like Levy-Lahad, King has advocated for all women over the age of 30 to have access to testing.

Critics of the Color Genomics model state that some women have mutations that can’t be classified as dangerous or benign, which means its users will pay for a test that won’t give them useful information but could increase their anxiety about their health, according to The New York Times’ article about the company. Color Genomics could not be reached for comment by press time.

Sharsheret can be reached at its toll-free phone number, 866-474-2774, or its website, sharsheret.org. Color Genomics website is getcolor.com.

Helen Chernikoff is web director; Miriam Groner is a contributing editor.

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