Back in April, former veterans from Google and Twitter joined forces to launch an Internet start up to sell a product that could change the way Americans discover their risk for certain cancers.
For just $249, Color Genomics offers a genetic test that sequences 19 genes for mutations linked to a higher risk for ovarian and breast cancers. And that price includes genetic counseling sessions by phone to help interpret results. That’s far cheaper than similar tests done in doctor’s offices, which can run in the thousands of dollars.
“The day after we launched we started shipping kits,” says Elad Gil, Color Genomics CEO and cofounder.
Color Genomics is one of the first lower-priced tests available through a website (with a doctor’s approval) but it won’t be the only player in the field.
“There’s probably many companies getting ready to launch these sorts of products,” says Dr. Robert Green, a physician-scientist in the Division of Genetics and Department of Medicine at Brigham and Women’s Hospital and Harvard Medical School. “I think it’s going to be a bit of the wild west in the coming years.”
Dr. Mary Claire King of the University of Washington, says what we’re seeing is the “democratization” of testing. King discovered the infamous BRCA 1 gene—mutations on that gene and another called BRCA 2 are associated with dramatically increased risk for ovarian and breast cancers. Dr. King believes every woman over 30 who wants testing should have access to it. She is an unpaid advisor to the company, Color Genomics.
“What we’re doing is offering information that empowers them to save their own lives,” King says.
She’s particularly concerned that insurance companies have only been covering expensive genetic tests for women who have a certain family history of cancer.
“About half of women who carry mutations in BRCA 1 or BRCA 2 have no family history of breast or ovarian cancer,” King says. “So if we only offer testing to women with a family history of breast or ovarian cancer, we’ll miss half of the women with mutations.”
Women like Robin Karlin. She had always told doctors she had no history of cancer among her close relatives.
But five years ago, she was shocked to learn her 22 year old son Eli had a BRCA 1 mutation. Within months, she got tested herself and figured out that she was the one who had passed that mutation on to her son. She inherited the abnormality from her father.
Between fifty-five and sixty-five percent of women who inherit a harmful BRCA 1 mutation, like Robin’s, will develop breast cancer by the time they’re 70 years old. And thirty-nine percent of those women will develop ovarian cancer.
Faced with that devastating news, one of the first things Karlin did was to reach out to a group called FORCE — Facing Our Risk of Cancer Empowered. After much thought and counseling, Karlin made the difficult decision to have a double mastectomy and have her ovaries and fallopian tubes removed. “The conclusion that I came to was that if I didn’t have the surgery and I did get cancer … the regret I would feel for not having the surgery would be so intense that I probably — that would just destroy me,” Karlin says. Karlin now volunteers for the FORCE organization. She believes the information women can receive from genetic testing is invaluable. “I do think it’s a good thing to have more testing available. And I also think that we’re in an interesting period right now where this is all just kind of starting. And that in the future what’s going to happen is that it’s going be absolutely standard part of healthcare to have, you know, full panels of genetic tests. And as we know more, they’ll just be more extensive. I don’t doubt that. Even within my lifetime, you know, that that’s gonna happen.” Harvard’s Dr. Green supports expanded access to genetic testing, but cautions that results aren’t always clear. “We’re moving into an era where there’s all sorts of genetic markers for all sorts of diseases. Rare diseases, common diseases, and most of them confer some degree of increased or decreased risk, but we not always sure exactly how much.” This story originally appeared on NBC News on May 20, 2015. View Part 1 and Part 3 of NBC Nightly News’ Genetic Testing Series.
Kate Snow
Kate Snow is a senior national correspondent for NBC News and an anchor for NBC Nightly News. Recommended
