A start-up called Color Genomics is now offering a DNA saliva test to detect gene mutations linked to both breast cancer and ovarian cancer. The California company announced the affordable screening test Monday.
The test can be taken at home, and it is priced at $249. The company is hoping that the test will increase access to testing for mutations in BRCA1 and BRCA2 genes, which are linked to breast and ovarian cancer, along with 17 other genetic variants associated with cancer risks in the ovaries and breasts.
The company said that their goal is to “democratize access to genetic testing” beginning with ovarian and breast cancer risk testing. Co-founder Elad Gil said that they “wanted to do it in a responsible way.”
People who want to take the test can ask their doctors for the test or use Color Genomics’ website to request for them to contact a physician. A test kit with a small plastic tube is sent in the mail. Then, the patient spits in the tube and mails it back to the company to be analyzed.
Gil explained that the company was able to downsize the cost of the test, which can cost thousands of dollars at a doctor’s office, in a variety of ways. They reduced costs by using technology to automate some of the process, recruiting software engineers from companies such as Twitter and Google and by making the price low enough that women do not have to involve insurance companies.
Before the announcement, the company validated the test’s accuracy by analyzing 500 samples provided by breast cancer researchers. Color Genomics published the results of the test on their website, and they hope to publish them in a peer-reviewed journal, according to Gil.
The announcement of the test sparked mixed reactions in scientists and patient advocates, according to KPBS News. Some praised the option of a cheaper test while others worried the results have not been studied enough to provide reliable information.
Currently, only women with a family history of breast cancer are encouraged to undergo BRCA testing. University of Washington geneticist, Mary-Claire King, said that women should have “the opportunity to be sequenced for BRCA1 and BRCA2” since many more women carry these mutations.
But other geneticists are worried the test will produce misleading results. Frances Visco of the National Breast Cancer Coalition worries that “it will give women information we really don’t know what it means.”
