23andMe’s new genetic test for cancer could create a false illusion of safety

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23andMe can now sell genetic tests for cancer risk directly to consumers, after being approved by the US Food and Drug Administration. UU Your team will test three mutations that predispose people to develop cancer, but there are hundreds more that will not be taken into account.
This is the first time that the FDA has approved a direct consumer genetic test for these three particular mutations in the BRCA1 and BRCA2 genes. (In the past, the FDA approved DTC genetic kits for conditions such as late-onset Alzheimer's and celiac disease.) It is known that mutations in the BRCA1 and BRCA2 genes are associated with an increased risk of prostate cancer, ovarian cancer and breast cancer. The three mutations that 23andMe will put to the test are the most common for descendants of Ashkenazi Jews, but they are not the most common mutations in the general population.
Because the test only tests three mutations, "the examinees may have the false illusion that they are not carriers, when in reality they may have hundreds of other known functional mutations," according to Eric Topol, Scripps Research geneticist. Institute, in an email to The Verge.
23andMe sequences scattered DNA sites throughout the genome, but for people seriously concerned about genetic risk, it would be smarter to sequence the entire genome in order to capture everything, he adds. (This can be done through services such as Color Genomics).
Even so, the executive director of 23andMe, Anne Wojcicki, argues that even with this limited capacity, the test will make genetic evaluations more accessible. Under the current system, she writes on the company's blog, mainly those with a family history of cancer, or who have Ashkenazi Jewish ancestry, who are encouraged to undergo BRCA mutation screening. Many people are unaware of their family medical history or their ancestry, and those people can now buy this test without a prescription.
Still, increasing access using a test that does not account for most cancer-related mutations seems less than optimal. And the FDA itself adds that the test should not be a substitute for seeing a doctor or receiving genetic counseling, and certainly can not rule out cancer. "The new 23andMe offer is better than nothing," Topol writes. "But we need (and we can even now) do it much better."


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