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

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.

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Publication Details

Journal
Journal of Medical Screening
Published
2025-09-10
DOI
https://doi.org/10.1177/09691413251376444
Primary Topic
Genetic Associations and Epidemiology
Type
article
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article

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

Aroon D. Hingorani
Journal of Medical Screening
Genetic Associations and Epidemiology
article

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

Aroon D. Hingorani
article en

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.

Journal of Medical ScreeningVol. 32(4)
University College London (GB)
Openalex Percentile: Top 74%
Genetic Associations and Epidemiology
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