Addressing the challenges of polygenic scores in human genetic research.

Humans Multifactorial Inheritance / genetics Genome-Wide Association Study Genetic Research Genotype Phenotype

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
01 12 2022
Historique:
entrez: 2 12 2022
pubmed: 3 12 2022
medline: 7 12 2022
Statut: ppublish

Résumé

The genotyping of millions of human samples has made it possible to evaluate variants across the human genome for their possible association with risks for numerous diseases and other traits by using genome-wide association studies (GWASs). The associations between phenotype and genotype found in GWASs make possible the construction of polygenic scores (PGSs), which aim to predict a trait or disease outcome in an individual on the basis of their genotype (in the disease case, the term polygenic risk score [PRS] is often used). PGSs have shown promise for studying the biology of complex traits and as a tool for evaluating individual disease risks in clinical settings. Although the quantity and quality of data to compute PGSs are increasing, challenges remain in the technical aspects of developing PGSs and in the ethical and social issues that might arise from their use. This ASHG Guidance emphasizes three major themes for researchers working with or interested in the application of PGSs in their own research: (1) developing diverse research cohorts; (2) fostering robustness in the development, application, and interpretation of PGSs; and (3) improving the communication of PGS results and their implications to broad audiences.

Identifiants

DOI: 10.1016/j.ajhg.2022.10.012 PMID: 36459976 PMC: PMC9808501
pubmed: 36459976
pii: S0002-9297(22)00460-8
doi: 10.1016/j.ajhg.2022.10.012
pmc: PMC9808501
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

2095-2100

Informations de copyright

Copyright © 2022. Published by Elsevier Inc.

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Auteurs

John Novembre (J)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA; Department of Ecology and Evolution, University of Chicago, Chicago, IL, USA. Electronic address: jnovembre@uchicago.edu.

Catherine Stein (C)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. Electronic address: cmj7@case.edu.

Samira Asgari (S)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Claudia Gonzaga-Jauregui (C)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, México.

Andrew Landstrom (A)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Pediatrics, Division of Cardiology, Duke University School of Medicine, Durham, NC, USA.

Amy Lemke (A)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Norton Children's Research Institute, affiliated with the University of Louisville School of Medicine, Louisville, KY, USA.

Jun Li (J)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

Chloe Mighton (C)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.

Matthew Taylor (M)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Adult Medical Genetics Program, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

Sarah Tishkoff (S)

Professional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Genetics, Center for Global Genomics and Health Equity, University of Pennsylvania, Philadelphia, PA, USA; Department of Biology, Center for Global Genomics and Health Equity, University of Pennsylvania, Philadelphia, PA, USA.

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Classifications MeSH

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questionsmedicales.fr › Phénomènes génétiques › Phénotype › Addressing the challenges of polygenic scores...