Principles and methods for transferring polygenic risk scores across global populations
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 …
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
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 …
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 …
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 …
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 …
(PRSs) for a variety of diseases. These scores, built from the summary statistics of genome …
Towards clinical utility of polygenic risk scores
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 …
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 …
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
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 …
provide valuable information for predicting disease risk, but PRSs perform poorly when …
Clinical use of current polygenic risk scores may exacerbate health disparities
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …
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 …
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …