Start up developing home genetic test for breast cancer

Ever since Angelina Jolie revealed she carried the BRCA1 mutation in May 2013, and subsequently underwent surgeries to remove her breasts, ovaries and fallopian tubes, there’s been a keen interest among women in genetic testing to know your risk of breast and ovarian cancers.

However, the cost of testing is an issue; normally only covered by insurance for women who have had cancer or have a family history of the disease, without coverage the cost can run the average woman multiple thousands of dollars.

One Silicon Valley start-up is trying to change the game in testing for genetic mutations. Color Genomics is now offering a saliva-sample test for $249, which checks for the BRCA1 and BRCA2 mutations in addition to 17 other genetic markers for cancer. Public figures like Jolie can afford a test for genetic mutations, no matter the cost. Color is looking to level the playing field for the ordinary woman.

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A spokesperson for Color Genomics tells Yahoo Health that the tests are safe and effective, meeting all the regulatory requirements around what is known as Clinical Laboratory Improvement Amendments (CLIA), a lab-quality bar that the State enforces.

“We have been working on the Color test for the last two years and are focused on the highest quality,” she says. “We have run a large battery of test samples with our collaborators at different universities, very well known scientists and geneticists to make sure we have been able to recapitulate everything that is seen in other tests that are on the market today.”

Major names are also standing behind this new test. In addition to big investors in the tech industry, the woman whose research helped identify the BRCA1 mutation, geneticist Mary-Claire King, is an unpaid advisor for the Color. Last year, King explained that some women at risk of inheriting the BRCA1 gene might be missed under current guidelines - like if they inherited a mutation from their father’s side of the family.

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“Based on our 20 years’ experience working with families with cancer-predisposing mutations in BRCA1 and BRCA2, it is time to offer genetic screening of these genes to every woman, at about age 30, in the course of routine medical care,” King writes. “Women with cancer-predisposing mutations in BRCA1 and BRCA2 are a high-risk group in whom special screening and counselling can be focused.”

What exactly does Color’s test analyse? “Right now, we are focused on an analysing 19 genes, including BRCA1 and BRCA2, that are linked to breast and ovarian cancer,” the spokesperson says. “By focusing on the genes that are scientifically validated and understood, we can comprehensively test for potential mutations impacting breast and ovarian cancer risk.”

Color’s goal, as advocated by King, is to make genetic tests of this nature available to all women over age 30 as part of normal medical screenings. Knowing your risk of cancer allows for informed choices about potential strategies and surgeries to reduce the risk of developing a disease.

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In general, the average woman has a 12 percent chance of developing breast cancer and a 1.3 percent risk of developing ovarian cancer in her lifetime. For women with BRCA1, that risk jumps to 55 to 65 percent for breast cancer and 39 percent for ovarian. With BRCA2, risk rises to 45 percent for breast cancer, and 11 to 17 percent for ovarian.

According to The New York Times, some experts are concerned that the test is “just increasing this group of worried-well,” who don’t have the full story about their health history. They’re also not sure exactly how Color will be able to test, interpret results and provide accurate guidance for such a low fee.

Color’s chief executive Elad Gil, who studied biology and cancer genes at MIT, before jumping on board Google and Twitter, says that the saliva test is cheaper than an in-office blood test, and women can still receive genetic counselling after their results are analysed.

Since Jolie brought BRCA to the forefront in 2013, there’s been growing interest in genetic screenings. Color launches its saliva test just after two major US clinical labs, Quest Diagnostics and LabCorp, announced they’d be sharing their data to better understand these mutations.

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The last US start-up to create a similar online-ordering process for tests, 23andMe, was forced to change their business from genetic testing for prescriptive purposes to testing for ancestral information after a 2013 by a letter from the FDA - however, Color is reportedly working to ensure a doctor is reading and analysing all tests ordered from the website.

It’s a promising development in disease prevention, but time will tell if Color’s saliva test will become a mainstay for identifying women at high risk of cancer.

This article originally appeared on Yahoo Health