Geno4ME研究：在大型医疗保健系统中实施全基因组测序用于人群筛查。
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system.
作者信息
Lucas Beckett Isabelle A, Emery Kate R, Wagner Josiah T, Jade Kathleen, Cosgrove Benjamin A, Welle John, Rinaldi J B, Dickey Lindsay, Jones Kyle, Wagner Nick, Shull Eric M, Clemens Jon, Trachana Kalliopi, Anderson Lance, Kudla Allison, Smith Brett, Verespej Hakon, Yuan Li Chi, Denne Elizabeth, Ramos Erica, Lovejoy Jennifer C, Olszewski Krzysztof, Reese Martin G, Reynolds Misty J, Miller Mandy M, Dowdell Alexa K, Beck Brianna, Scanlan James M, Campbell Mary B, Magis Andrew T, Vartanian Keri, Piening Brian D, Bifulco Carlo B, Gordon Ora K
机构信息
Providence Health and Services, Renton, WA, USA.
Institute For Systems Biology, Seattle, WA, USA.
出版信息
NPJ Genom Med. 2025 Jul 1;10(1):50. doi: 10.1038/s41525-025-00508-1.
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.
“全民基因组医学”（Geno4ME）研究在跨越七个州的普罗维登斯医疗系统中开展，旨在实现贯穿患者一生的基因组学研究和基因组指导下的医疗服务。我们开展了针对代表性不足群体的多语言宣传推广活动，搭建了一个全新的电子知情同意和教育平台，并进行全基因组测序，同时提供78种遗传性疾病基因和4种药物代谢酶基因的检测结果临床反馈以及电子健康记录整合。全基因组序列被存档用于研究和变异重新分析。该项目为患者及其医疗服务提供者提供了遗传咨询、药剂师支持以及基于指南的临床建议。最初联系了超过30800名潜在参与者，其中2716人同意参与，2017人收到了检测结果（47.5%为少数族裔个体）。总体而言，432人（21.4%）的检测结果中有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。我们提议将Geno4ME作为一个将群体健康基因组学整合到常规医疗保健中的框架。
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