Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.

Kelly M Schiabor BarrettAlexandre BolzeYunyun NiSimon WhiteMagnus IsakssonLavania SharmaElissa LevinWilliam LeeJoseph J GrzymskiJames T LuNicole L WashingtonElizabeth T Cirulli

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

We identify seven genetic conditions where rare variation appears appropriate to assess in population screening, four of which are not yet used in screening programs. The addition of GCK, HBB, PKD1, and MIP rare variants into genetic screening programs would reach an additional 0.21% of participants with actionable disease risk, depending on the population.

Keyphrases

copy number
genome wide
public health
gene expression
dna methylation