Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Nature Medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …

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 …

[HTML][HTML] Current clinical use of polygenic scores will risk exacerbating health disparities

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

[PDF][PDF] 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 …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …

[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 …

[HTML][HTML] Polygenic risk scores: An overview from bench to bedside for personalised medicine

B Cross, R Turner, M Pirmohamed - Frontiers in Genetics, 2022 - frontiersin.org
Since the first polygenic risk score (PRS) in 2007, research in this area has progressed
significantly. The increasing number of SNPs that have been identified by large scale GWAS …

[HTML][HTML] Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

[HTML][HTML] Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

NJ Lennon, LC Kottyan, C Kachulis, NS Abul-Husn… - Nature Medicine, 2024 - nature.com
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …