Consumer Genomics Breast Cancer Test FAIL
/23andMe DTC Breast and Ovarian Cancer Risk Test Misses Almost 90 Percent of BRCA Mutation Carriers
Julia Karow, GenomeWeb
SEATTLE (GenomeWeb) – A study led by researchers at Invitae has found that 23andMe's direct-to-consumer BRCA test, which tests for three common variants in the BRCA1 and BRCA2 genes and is authorized by the US Food and Drug Administration, misses almost 90 percent of BRCA mutation carriers, both in those with and those without a personal or family history of cancer.
In addition, it misses almost 20 percent of BRCA mutations in those of self-reported Ashkenazi Jewish descent because it doesn't test for them.
The results of the study, which looked at data from almost 125,000 de-identified individuals who had been referred to Invitae for diagnostic testing with one of the firm's cancer risk tests, was presented yesterday at the American College of Medical Genetics and Genomics annual meeting by Edward Esplin,Dian a clinical geneticist at Invitae.
Esplin told GenomeWeb that the study, which did not mention 23andMe by name, was meant to criticize a screening strategy with an FDA-authorized DTC test that appears to have limited clinical utility rather than to criticize 23andMe for offering the test.
In his presentation, he pointed out that the FDA's authorization for the test last year "sounds more like a warning than an approval." FDA cautioned that the test, which examines three founder mutations in the BRCA genes that are common in the Ashkenazi Jewish population, does not assess more than 1,000 other known BRCA mutations, so a negative result does not rule out someone is a mutation carrier. It also advises that positive test results should not be used to determine any treatments without confirmatory testing and genetic counseling.
