3 ms·

Impact of whole genome sequencing on healthy adults: a randomized trial (2017)

• troydavis 7y ago
  > 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-sequenced-but-should-you/ https://www.wired.com/story/you-can-get-your-whole-genome-se... : > 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.”