Last month, the film star Angelina Jolie Pitt had her ovaries removed–a response to learning that she has a damaged BRCA1 gene, which indicated that her chances of contracting breast or ovarian cancer in her lifetime were around 80% and 50%, respectively. It’s the same reason she had a controversial preventative double mastectomy in 2013. Her actions spawned a national conversation about privilege and access to information about one’s own genes. Tests for BRCA1 and BRCA2 typically cost up to $4,000, and insurance companies have strict criteria when it comes to covering these tests, disqualifying many women who don’t have a family history of cancer at a young age or don’t meet other requirements–including, in some cases, a personal history with cancer themselves.
Color Genomics, a new company founded by ex-Googlers Othman Laraki and Elad Gil, along with pathologist Taylor Sittler and biologist Nish Bhat, hopes to make this type of genetic testing more affordable. Their company’s Color Test, out today, is a mail-order, at-home saliva test that costs $249 and tests 19 genes connected to breast and ovarian cancer, including BRCA1 and BRCA2. Mutations in those genes can indicate a risk for breast and ovarian cancer many times greater than the national average (in their lifetimes, 12% of American women will develop breast cancer and 1.3 % of American women will develop ovarian cancer). These kinds of mutations also put women at risk for cancer at a much younger age. Early detection greatly increases five-year survival rates, from 25% for late-stage breast cancer to 98% for early-stage breast cancer. If a woman knows her risk, she can pursue a range of options–including close monitoring or invasive prevention.
Unlike the much-publicized genetic testing company 23andMe, which is currently limited by the FDA in its ability to market consumer genetic tests, the Color Genomics Color Test must be ordered by a physician. The physician can be a woman’s doctor, or a physician designated by Color Genomics to review a woman’s personal and family health history and order the test for her. After a woman’s test is sent back to Color Genomics and analyzed, she is connected with a genetic counselor to explain and discuss the results with her–that consultation is included in the testing cost.
Color Genomics’ test is CLIA (Clinical Laboratory Improvement Amendments)-certified, as are tests from companies such as Myriad and Ambry that already conduct physician-ordered BRCA1 and BRCA2 tests. The difference for patients, says Laraki, is not only the convenience of the at-home saliva test, but the cost savings due to Color Genomics’ proprietary technology, which cuts hours of labor out of the testing process.
“In many ways this has become primarily a software problem, whereas before it was the biology that was the big challenge,” says Laraki. “Ten years ago, sequencing the human genome cost $20 million, now it costs a few thousand, but the cost drop hasn’t been translated to normal people.”
Laraki says that to bring down the cost, “we went through the process end to end, from receiving the sample at the lab to analysis, and automated every single step that before involved a lot of manual labor by clinicians. To give a concrete example, when you see a genetic variant in someone, you need to determine if it’s a damaging one or not. To do that, there are well-established guidelines that you can think of as a complicated flow chart that incorporate many pieces of information that tend to be implemented in a very manual way. So you have very highly educated PhDs assembling that information to make that determination of whether something is pathogenic or not. What we’ve done is created a process that makes those same PhDs able to do that work in a much more efficient way.”
Color Genomics also uses state-of-the-art robots to run large chunks of the lab process. And while that requires a lot of up-front cost, “it makes the process more reliable,” says Laraki, “which translates to lower costs at the end of the day.”
In addition, Color Genomics doesn’t work with insurance companies at all–all tests are paid for by patients out of pocket. Laraki says that eliminating the work required for insurance processing creates large administrative savings that can be passed onto the patient. For women who can’t afford the test, Color Genomics has launched the Every Woman program, which will partner with research hospitals and community clinics to provide free testing. In addition, women purchasing a test for themselves can also choose to make a donation to the program.
All four of the company’s founders have a mixed background in genetics and software. The Color Test was developed with researchers from Stanford, UCSF, and MIT, and the company is currently working with genetics experts at institutions including U Penn, UCSF, and the University of Washington. The partnership includes Mary-Claire King, who discovered the BRCA1 gene.
“We’ve gone through hundreds of samples where our collaborators will send them blinded–they know the answers and we don’t,” says Laraki. “These are literally some of their most difficult and interesting cases. And we’ve run them through our lab and interpretations, and we have a 100% hit rate.”
As with many data-collecting medical innovations, the potential significance of a widely available breast cancer genetic test isn’t just its effect on individual test takers, but in the use of this aggregate data in scientific research.
“People own their data, it belongs to the consumers, and they should be able to decide how their data is used,” says Laraki, noting that people can opt out of any research use of their data. “But there’s also a moral imperative to share findings with the research community, in open databases with aggregate data in anonymized form. If we discover that a gene variant is pathogenic, we think that it’s very important that another lab can benefit from our work.”