The future of polygenic risk scores looks bright. But does it? Responsible use starts with getting real about the predictive ability and utility. And getting the science right first. nature.com/articles/s4159…
@cecilejanssens Noted by the authors as the first research gap to be filled.
@GENES_PK Yes, but how long can you keep saying that? It's already clear for years where the promising applications will be. Pretending that CAD PRS is promising is laughable ... disappointing, and misleading.
@twitskeptic @cecilejanssens To give some sense of scale and highlight the fact that the C-statistic is not a direct indicator of clinical utility: If I’ve done the maths right, the increment in AUC comparing population BRCA1 testing versus not is about .02.
@twitskeptic @cecilejanssens Further, as noted in the cited article [Elliott JAMA 2020] after adding PRS, estimates of risk “changed by 5% or more for 1.1% of participants.” Given one recommended risk threshold for lipid lowering meds is 7.5%, that’s a meaningful change for those in that 1.1%.