3 ms·
Clinically, we have the option to sequence the BRCA 1/2 genes. It's not uncommon for this to be done if certain clinical criteria are met (such as close family
by skwb 8y ago
Clinically, we have the option to sequence the BRCA 1/2 genes. It's not uncommon for this to be done if certain clinical criteria are met (such as close family history of brca or being of Ashkenazi Jewish descent.) [1].
Note: Paywall warning. But the uptodate article says the following.
"Direct-to-consumer BRCA testing — In March 2018, the US Food and Drug Administration (FDA) authorized the direct-to-consumer (DTC) company, 23andMe, to include BRCA testing as part of its Personal Genome Service Genetic Health Risk report [60]. It is important to note that the testing includes only the three BRCA Ashkenazi Jewish founder mutations and does not entail analysis of other potential variants in these genes. Pre- and post-test genetic counseling is not required for individuals interested in such DTC testing.
Any individual who receives a positive result from DTC testing should have it confirmed in a clinical lab. Although the likelihood of a false-positive result is very low, it is critical for the result to be confirmed and an individual, signed report should be provided to the patient.
An important concern related to BRCA DTC testing is that women at average risk for breast cancer may be falsely reassured about what the genetic testing results mean for their breast cancer risk and the continued need for routine, age-appropriate mammography screening. On the other hand, for women with a personal or family history of breast cancer who are candidates for genetic testing, testing only for the founder BRCA variants is incomplete, regardless of ancestry. Such women need complete BRCA gene analysis and are likely good candidates for multigene panel testing."
[1]. https://www.uptodate.com/contents/genetic-counseling-and-testing-for-those-at-risk-of-hereditary-breast-and-ovarian-cancer?sectionName=CRITERIA%20FOR%20GENETIC%20RISK%20EVALUATION&topicRef=758&anchor=H3090108380&source=see_link#H3090108380 https://www.uptodate.com/contents/genetic-counseling-and-tes...
- evrydayhustling 8y agoThanks for these details! Edit: it's still bugging me that this doesn't describe the utility of the additional clinical screen more specifically. Is the point that even if false positives are rare, the treat path is informed by full sequence data? Would love additional insight. These details are important to me because I think low cost tests can fill a public health niche that "only the most comprehensive test" strategies leave underserved. Any progress in those areas is likely to meet resistance, because it could bite into the margins of folks offering broader packages. So I am really interested in how both scientific and popular articles portray the tradeoffs.