Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

[HTML][HTML] Polygenic risk scores in the clinic: translating risk into action

ACF Lewis, RC Green, JL Vassy - Human Genetics and Genomics …, 2021 - cell.com
Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and
personalized preventive care, but they are clinically useful only if they can be translated into …

[HTML][HTML] The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

J Kumuthini, B Zick, A Balasopoulou, C Chalikiopoulou… - Human Genetics, 2022 - Springer
Genomic medicine aims to improve health using the individual genomic data of people to
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …

[HTML][HTML] Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization

ACF Lewis, EF Perez, AER Prince, HR Flaxman… - Genome Medicine, 2022 - Springer
Background Polygenic risk scores (PRS), which offer information about genomic risk for
common diseases, have been proposed for clinical implementation. The ways in which PRS …

[HTML][HTML] Implementation and implications for polygenic risk scores in healthcare

JL Slunecka, MD van der Zee, JJ Beck, BN Johnson… - Human genomics, 2021 - Springer
Increasing amounts of genetic data have led to the development of polygenic risk scores
(PRSs) for a variety of diseases. These scores, built from the summary statistics of genome …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

[HTML][HTML] The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

A Abu-El-Haija, HV Reddi, H Wand, NC Rose… - Genetics in …, 2023 - Elsevier
Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait,
disorder, or disease results from the combined contribution of variants from multiple genes …

[HTML][HTML] Incorporating family history of disease improves polygenic risk scores in diverse populations

MLA Hujoel, PR Loh, BM Neale, AL Price - Cell genomics, 2022 - cell.com
Polygenic risk scores (PRSs) derived from genotype data and family history (FH) of disease
provide valuable information for predicting disease risk, but PRSs perform poorly when …

Clinical use of current polygenic risk scores may exacerbate health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada, BM Neale… - Nature …, 2019 - nature.com
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

DJ Thompson, D Wells, S Selzam, I Peneva, R Moore… - MedRxiv, 2022 - medrxiv.org
We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …