Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system.

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2025-07-01 DOI:10.1038/s41525-025-00508-1

Isabelle A Lucas Beckett, Kate R Emery, Josiah T Wagner, Kathleen Jade, Benjamin A Cosgrove, John Welle, J B Rinaldi, Lindsay Dickey, Kyle Jones, Nick Wagner, Eric M Shull, Jon Clemens, Kalliopi Trachana, Lance Anderson, Allison Kudla, Brett Smith, Hakon Verespej, Li Chi Yuan, Elizabeth Denne, Erica Ramos, Jennifer C Lovejoy, Krzysztof Olszewski, Martin G Reese, Misty J Reynolds, Mandy M Miller, Alexa K Dowdell, Brianna Beck, James M Scanlan, Mary B Campbell, Andrew T Magis, Keri Vartanian, Brian D Piening, Carlo B Bifulco, Ora K Gordon

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引用次数: 0

Abstract

The Genomic Medicine for Everyone (Geno4ME) study was established across the seven-state Providence Health system to enable genomics research and genome-guided care across patients' lifetimes. We included multi-lingual outreach to underrepresented groups, a novel electronic informed consent and education platform, and whole genome sequencing with clinical return of results and electronic health record integration for 78 hereditary disease genes and four pharmacogenes. Whole genome sequences were banked for research and variant reanalysis. The program provided genetic counseling, pharmacist support, and guideline-based clinical recommendations for patients and their providers. Over 30,800 potential participants were initially contacted, with 2716 consenting and 2017 having results returned (47.5% racial and ethnic minority individuals). Overall, 432 (21.4%) had test results with one or more management recommendations related to hereditary disease(s) and/or pharmacogenomics. We propose Geno4ME as a framework to integrate population health genomics into routine healthcare.

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Geno4ME研究：在大型医疗保健系统中实施全基因组测序进行人群筛查。

全民基因组医学（Geno4ME）研究在七个州的普罗维登斯卫生系统中建立，以实现基因组学研究和基因组指导的患者一生护理。我们包括向代表性不足的群体提供多语言外展服务，一个新型电子知情同意和教育平台，以及78个遗传疾病基因和4个药物基因的全基因组测序的临床结果反馈和电子健康记录整合。全基因组序列被储存起来用于研究和变异再分析。该项目为患者及其提供者提供遗传咨询、药剂师支持和基于指南的临床建议。最初联系了超过30,800名潜在参与者，其中2716人同意，2017年的结果已返回（47.5%的种族和少数民族个体）。总体而言，432例（21.4%）患者的检测结果包含一项或多项与遗传性疾病和/或药物基因组学相关的管理建议。我们建议将Geno4ME作为将人口健康基因组学整合到常规医疗保健中的框架。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.