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by carbocation 5526 days ago
> With no disrespect intended to the doctors and researchers who comprise the medical field, I find it interesting that those closest to the field show the most concern over interpretation of sequencing results.

That's not disrespectful at all. In fact, it's to be expected that those who are closest to a technique are the most familiar with its pitfalls.

> it is a statistical fact that certain studies have associated certain SNPs with certain conditions

Sort of, but that's not as relevant as you seem to think. The SNP reported in each study is not generally presumed to be the causal SNP; it's just tagging the causal SNP. For any particular person, it is possible that recombination occurred between the tagged and causal SNPs, interrupting the haplotype.

Even if we assume that sort of thing doesn't happen (which, most of the time, it won't), we're still talking about odds ratios of at most (for lipids) 1.3. That type of minimal increase in risk extremely difficult to convey. In fact, in medical practice, it often wouldn't even be worth reporting (depending on, e.g., background prevalence of disease).

So really, I think that issues are more complex and subtle than one might gather from reading your post. Should you have the right to get your genome sequence? Yes. Should you have the right to read the published literature? Yes. Does a company have the right to interpret that literature as a quasi-medical service? Again, this is the place where regulation makes sense.