Ormond Kelly E, O'Daniel Julianne M, Kalia Sarah S
Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, California.
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, Carolina.
J Genet Couns. 2019 Apr;28(2):326-333. doi: 10.1002/jgc4.1098. Epub 2019 Mar 1.
The American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental (now "secondary") findings in clinical exome and genome sequencing (Green et al., Genet Med 15:565, 2013) is an often cited and sometimes misapplied professional guideline. To best approach the current state of secondary findings (SFs) in genomic medicine, and consider their impact, it is helpful to understand how and why the guideline was created. Of particular importance is the context - the state of the science and clinical practice during 2011-2012 when the guideline were initially developed. This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since.
美国医学遗传学与基因组学学会(ACMG)关于在临床外显子组和基因组测序中报告偶然(现称“次要”)发现的建议(Green等人,《遗传医学》15:565,2013年)是一份经常被引用且有时被误用的专业指南。为了更好地了解基因组医学中次要发现(SFs)的当前状况,并考虑其影响,了解该指南的制定方式和原因会有所帮助。特别重要的是背景——2011 - 2012年该指南最初制定时的科学和临床实践状况。本文将回顾该指南发布之前的背景情况,以及此后进行的实证研究和讨论。