
Impact of whole genome sequencing on healthy adults: a randomized trial (2017) - troydavis
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856654/
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troydavis
> Eligible patients were 40-65 years old, had no history of cardiovascular
> disease or diabetes mellitus, and were deemed generally healthy in the
> judgment of the PCP.

…

> Eleven FH+WGS patients (22%, 12%–36%) had new monogenic disease risk
> results. Only two (4%, 0.01%–14%) had evidence of the phenotypes predicted
> by an MDR result (fundus albipunctatus due to RDH5 and variegate porphyria
> due to PPOX).

…

> For the remaining nine patients with a new MDR result, six-month EHR review
> found no evidence of the predicted phenotypes from routine clinical
> evaluation.

Summary from [https://www.wired.com/story/you-can-get-your-whole-genome-
se...](https://www.wired.com/story/you-can-get-your-whole-genome-sequenced-
but-should-you/) :

> To find out, primary care doc Jason Vassy recruited a handful of colleagues
> from around Boston to sequence the full genomes of 50 patients—the first
> randomized trial of whole genome sequencing in primary care. They expected
> to find maybe one person with a marker for one of those rare, monogenic
> diseases. Instead, they found 11. “That’s a shockingly high number,” says
> Vassy. “If you look at the list of the conditions we found, most primary
> care physicians have never heard of them. It would would be crazy to think
> that 20 percent of people have a disease like that.”

