COIOS
COIOS

Whether genomic risk prediction is good enough to use on whole populations

Polygenic risk scores discriminate modestly for common diseases — a top-decile score carries perhaps two to three times the average risk for coronary disease or breast cancer — and they perform worse in people of non-European ancestry, because the underlying studies are mostly European. That is the state of the science. The state of practice is a set of large programmes testing whether the scores are useful at the point of care: Our Future Health in the UK is recruiting millions with a view to returning risk information; Genomics England's newborn sequencing study is testing whole-genome screening at birth; Estonia and Finland have returned scores to citizens. What none of these has yet produced is a randomised trial showing that acting on a score changes an outcome. Trials of score-guided screening for prostate and breast cancer are under way. Until they report, the case for population use rests on prediction rather than benefit, and the equity problem is unresolved.

Status
emerging
Direction
strengthening
Would change our view
A randomised trial in which score-guided screening or treatment changed a clinical outcome, or evidence at scale that returning scores caused harm or widened ancestry inequities.
Trackers
Gaps
Prediction and calibration in non-European ancestries; any implementation evidence from outside the UK, US, Estonia and Finland.