98%
921
2 minutes
20
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.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1177/09691413251376444 | DOI Listing |
J Med Screen
September 2025
Institute of Cardiovascular Science, University College London, London, UK.
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.
View Article and Find Full Text PDFSleep
September 2025
Department of Psychology, Royal Holloway, University of London, London, United Kingdom.
Study Objectives: Chronotype has been linked to a wide variety of psychiatric conditions. In particular, evening chronotype could be a transdiagnostic risk factor for different mental health difficulties. In this study we examine how chronotype relates to psychopathology and whether it can be conceptualised as part of the global construct of psychopathology (p-factor) by studying the genetic and environmental overlap between these variables.
View Article and Find Full Text PDFBackground: Schizotypy (ST) and psychotic-like experiences and negative symptoms (PENS) are commonly used phenotypes in high-risk and early intervention research for schizophrenia and other non-affective psychoses. However, the origin of these phenotypes in the general population is poorly understood and their association with the genetic predisposition to psychoses has not yet been proven.
Aim: The aim of this study is to answer the question of whether data on the relations of ST and PENS with polygenic risk scores for schizophrenia (SZ-PRS) support the hypothesis that these phenotypes are subclinical manifestations of genetic liability for schizophrenia.
Ann Clin Transl Neurol
September 2025
23andMe, Inc., Sunnyvale, California, USA.
Objective: To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms.
View Article and Find Full Text PDFNat Metab
September 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
Young-onset monogenic disorders often show variable penetrance, yet the underlying causes remain poorly understood. Uncovering these influences could reveal new biological mechanisms and enhance risk prediction for monogenic diseases. Here we show that polygenic background substantially shapes the clinical presentation of maturity-onset diabetes of the young (MODY), a common monogenic form of diabetes that typically presents in adolescence or early adulthood.
View Article and Find Full Text PDF