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I wonder how this stacks up vs other BRCA tests in terms of performance and coverage of common variants. And also whether it is cheaper to use their DTC test r
by aaavl2821 9y ago
I wonder how this stacks up vs other BRCA tests in terms of performance and coverage of common variants. And also whether it is cheaper to use their DTC test rather than going to a doctor and getting insurance to cover the test? I assume this is not a sequencing based test?
- refurb 9y agoApparently it only identifies two of the hundreds of BRCA variants that can lead to cancer. Good first step I guess?
- chrisamiller 9y agoIt's a SNP chip and only covers a few common mutations. To anyone who wants to know for sure whether you're at increased risk of breast cancer, you'll want to get a test that sequences all the known mutations, along with another half-dozen or so genes that can have essentially the same effect as a damaging mutation in BRCA. I'd also urge you to find a genetic counselor, who can help explain the diagnosis in detail, as well as the limitations of the each kind of test.
- marchenko 9y agoAdditionally, many harmful mutations are essentially "private" within a family and do not inform any of the GWASs used to create these SNAP chips. Regional sequencing is still important for persons with a family history of illness.