Assessment of the value of polygenic risk scores in the prevention of disease.

Abstract

It is claimed that polygenic risk scores will transform disease prevention, but a typical polygenic risk score for a common disease only detects 11% of affected individuals at a 5% false positive rate. This level of screening performance is not useful. Claims to the contrary are either due to incorrect interpretation of the data or other influences. Implementation of polygenic risk scores would divert resources from population-wide approaches that address the major disease burden in the average-risk majority to the follow-up of the many false positive results in those designated at high polygenic risk.