Weird digression! I happen to agree Sarah Jeong's work is worthwhile, but like you said it's not her field, and none of the editorial board list anything about medical focus. Re: consulting experts, sure and agreed - but then why not do it as a reported piece and like, quote the experts?
> this particular NYT article is pretty on point for their analysis as read by a bioinformatics PhD student
Really? With stuff like "23andMe’s breast cancer screen looks at just a handful of places in the gene where mutations are known to appear. That’s like proofreading a document by looking at only a handful of letters"? Bioinformatics research background here, too, and as far as I know all of those screens scan particular sites and not a full sequencing -- because the sites are the only thing we have clinical evidence for anyway.
I don't doubt that there are more comprehensive screens on the market, but arguments like "only 2% of the population has these mutations" are rhetorically misleading without comparative details, like how much of the population has detectable mutations of any kind.
I think using an opinion page level of rigor to make arguments of this kind misleads some people, and leaves everybody else in a place of choosing whether to "trust the NYT brand" as opposed to providing them evidence.
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."
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.
> this particular NYT article is pretty on point for their analysis as read by a bioinformatics PhD student
Really? With stuff like "23andMe’s breast cancer screen looks at just a handful of places in the gene where mutations are known to appear. That’s like proofreading a document by looking at only a handful of letters"? Bioinformatics research background here, too, and as far as I know all of those screens scan particular sites and not a full sequencing -- because the sites are the only thing we have clinical evidence for anyway.
I don't doubt that there are more comprehensive screens on the market, but arguments like "only 2% of the population has these mutations" are rhetorically misleading without comparative details, like how much of the population has detectable mutations of any kind.
I think using an opinion page level of rigor to make arguments of this kind misleads some people, and leaves everybody else in a place of choosing whether to "trust the NYT brand" as opposed to providing them evidence.