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多基因风险评分在医疗保健中的实施及影响。

Implementation and implications for polygenic risk scores in healthcare.

机构信息

Avera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA.

Department of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.

出版信息

Hum Genomics. 2021 Jul 20;15(1):46. doi: 10.1186/s40246-021-00339-y.


DOI:10.1186/s40246-021-00339-y
PMID:34284826
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8290135/
Abstract

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-wide association studies (GWASs), are able to stratify individuals based on their genetic risk of developing various common diseases and could potentially be used to optimize the use of screening and preventative treatments and improve personalized care for patients. Many challenges are yet to be overcome, including PRS validation, healthcare professional and patient education, and healthcare systems integration. Ethical challenges are also present in how this information is used and the current lack of diverse populations with PRSs available. In this review, we discuss the topics above and cover the nature of PRSs, visualization schemes, and how PRSs can be improved. With these tools on the horizon for multiple diseases, scientists, clinicians, health systems, regulatory bodies, and the public should discuss the uses, benefits, and potential risks of PRSs.

摘要

越来越多的遗传数据导致了多种疾病的多基因风险评分(PRSs)的发展。这些评分是基于全基因组关联研究(GWAS)的汇总统计数据构建的,能够根据个体的遗传风险对其进行分层,以确定他们患上各种常见疾病的风险,并且可能有助于优化筛查和预防治疗的使用,改善患者的个性化护理。但仍有许多挑战需要克服,包括 PRS 的验证、医疗保健专业人员和患者的教育,以及医疗保健系统的整合。在使用这些信息方面也存在伦理挑战,以及目前缺乏具有 PRS 的多样化人群。在这篇综述中,我们讨论了上述主题,并涵盖了 PRS 的性质、可视化方案,以及如何改进 PRS。随着这些工具在多种疾病中的应用,科学家、临床医生、医疗保健系统、监管机构和公众应该讨论 PRS 的用途、益处和潜在风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/cb903f26fce4/40246_2021_339_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/0753f05172c6/40246_2021_339_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/ad57612a70a0/40246_2021_339_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/4d3c4c5352c3/40246_2021_339_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/001f144ac520/40246_2021_339_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/cb903f26fce4/40246_2021_339_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/0753f05172c6/40246_2021_339_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/ad57612a70a0/40246_2021_339_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/4d3c4c5352c3/40246_2021_339_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/001f144ac520/40246_2021_339_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e482/8290603/cb903f26fce4/40246_2021_339_Fig5_HTML.jpg

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Genetic Architecture of Ischemic Stroke: Insights from Genome-Wide Association Studies and Beyond.

J Cardiovasc Dev Dis. 2025-7-23

[2]
Standardization, Education, and Resourcing: The Way Forward for Implementing Polygenic Risk Scores in Hereditary Breast and Ovarian Cancer.

Clin Transl Sci. 2025-8

[3]
Impact of polygenic risk score (PRS) for coronary artery disease on physician decision-making and patient care.

Front Genet. 2025-7-25

[4]
Genomic risk prediction for type 2 diabetes in Australian individuals aged 70 years and older.

Diabetes Obes Metab. 2025-9

[5]
Alzheimer's disease polygenic risk's association with all-cause dementia through the plasma metabolome in the UK Biobank study.

Geroscience. 2025-7-1

[6]
Attitudes regarding polygenic risk testing for lung cancer: a mixed-methods study.

Ann Behav Med. 2025-1-4

[7]
Influence and role of polygenic risk score in the development of 32 complex diseases.

J Glob Health. 2025-3-10

[8]
Patient perspectives after receiving simulated preconception polygenic risk scores (PRS) for family planning.

J Assist Reprod Genet. 2025-3

[9]
Genetic proxies for clinical traits are associated with increased risk of severe COVID-19.

Sci Rep. 2025-1-15

[10]
The Polygenic Nature of Multiple Sclerosis: Genetic Variants, Immunological Modulation, and Environmental Connections.

Endocr Metab Immune Disord Drug Targets. 2024-12-31

本文引用的文献

[1]
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation.

Nat Genet. 2021-4

[2]
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Nature. 2021-3

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Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries.

Am J Cardiol. 2021-6-1

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Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.

Am J Hum Genet. 2020-9-28

[5]
Tutorial: a guide to performing polygenic risk score analyses.

Nat Protoc. 2020-7-24

[6]
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Nat Genet. 2020-6-15

[7]
Electronic health records and polygenic risk scores for predicting disease risk.

Nat Rev Genet. 2020-3-31

[8]
Intergenerational Transmission of Education and ADHD: Effects of Parental Genotypes.

Behav Genet. 2020-7

[9]
Reproducible Genetic Risk Loci for Anxiety: Results From ∼200,000 Participants in the Million Veteran Program.

Am J Psychiatry. 2020-1-7

[10]
Physical activity offsets genetic risk for incident depression assessed via electronic health records in a biobank cohort study.

Depress Anxiety. 2019-11-5

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