BRCA1 and BRCA2 are arguably the best-known human genes because their mutations are linked to an increased risk of breast and ovarian cancer. When Angelina Jolie revealed in a New York Times op-ed that she’d tested positive for the mutation and decided to undergo a double mastectomy, she also noted that: ”The cost of testing for BRCA1 and BRCA2, at more than $3,000 in the United States, remains an obstacle for many women.”
Now, a Silicon Valley startup which raised $15 million in funding, wants to fix the problem and have all American women get access to a test for 19 gene mutations, including the BRCA1 and BRCA2, responsible of increasing specifically ovarian and breast cancer risk, but also linked to other cancers.
Genetic diagnostics are expensive: The tests available in the US cost thousands of dollars (from $1,500 to $4,000) and screening for BRCA gene mutations is currently prescribed (and hence likely covered by insurance) only in the case of direct family history of ovarian and breast cancer. However, of the 12% of American women who develop breast cancer, many do not know of a family history. The gene mutation is responsible for 5%-10% breast cancers and about 15% ovarian cancers, but carriers might also be unaware of their family history since half the carriers of the of mutated BRCA genes are men, who are unlikely to develop breast cancer.
In order to achieve a ”democratizing genetic diagnostics,” that Elad Gil, a former cancer researcher at MIT and Otman Laraki, a former engineer at Twitter and Google founded Colors Genomics, a company offering BRCA mutation detection tests at a fraction of the price of the available ones—$249 each.
Of the women with a mutation in BRCA genes, 80% will develop breast cancer by the age of 80, and evidence suggests that screening for BRCA genes mutations has a great life-saving potential: It leads to early detection of cancer, which results in 98% five-year survival rate. Recently Mary-Claire King, the Lasker award winner who discovered the gene, called for much wider screening, saying:
“We recommend that every woman in America of any race or ancestry be offered this opportunity when she’s in the midst of childbearing or beginning childbearing.”
The co-founders told Quartz that their aim is that “any woman anywhere can afford the test,” and to this goal have also launched the “Every Woman Program,” which provides free testing to women who wouldn’t otherwise be able to afford it.
Color Genomics’ testing is much cheaper than other available options because there is dedicated attention to cutting costs. “There is no middle man,” the founders told Quartz, and “it’s easy for the physician to order [the test] online.” Further, they explained, “a lot of companies in health run at 90% [profit] margin,” while Colors Genomics is looking at a much smaller profit on each test, aiming instead to gain from larger sales.
The testing process is simple: A physician orders it online, and the patient receives a kit with a plastic tube to collect a saliva sample and a mailing label. The sample is processed in a central lab and the results are provided with genetic counseling. “We want to make sure that there is always a physician involved,” explain the founders, saying that they don’t allow patients to access their test results without a doctor (the company will assign one to patients who have ordered the test themselves)—last year, a similar startup called 23andme had to stop providing health testing due to the lack of doctors’ involvement.
“This is not noise,” Laraki and Gil told Quartz, about the potential that this could result in over-screening and generate unneeded anxiety in women, “this is information that is useful and actionable.” Knowing of a gene mutation can greatly affect preventive care, the frequency of cancer screenings, and the eventuality of preventive surgery (as in Jolie’s case).
Colors Genomics is currently available in 45 states and is on its way to comply with further regulations required in New York, Maryland, Rhode Island, Pennsylvania and Florida.