Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

Abstract

The issue of incidental findings in genomics research has been contentious, particularly in whole genome sequencing (WGS) and whole exome sequencing (WES). An incidental or secondary finding has generally been defined as ‘a finding concerning an individual research participant that has potential health or reproductive importance and is discovered in the course of conduct – but is beyond the aims of the study.’ [ 1 Wolf S.M. et al. Managing incidental findings in human subjects research: analysis and recommendations. J. Law Med. Ethics. 2008; 36: 219-248 Crossref PubMed Scopus (547) Google Scholar ]. However, as WGS and WES increasingly enter the clinical realm, these concerns are extended to individually relevant findings that are unrelated to the clinical purpose of sequencing. In May 2012, the American College of Medical Genetics and Genomics (ACMG) released a policy statement on Points to Consider in the Clinical Application of Genomic Sequencing in which they cautioned that ‘when interpreting secondary findings, or results that are generated in the course of screening asymptomatic individuals, it is critical that the standards for what is reportable be high to avoid burdening the health care system and consumers with what could be very large numbers of false positive results’ [ 2 Board of Directors, American College of Medical Genetics and Genomics. Points to consider in the clinical application of genomic sequencing (2012) Available at: http://www.acmg.net/StaticContent/PPG/Clinical_Application_of_Genomic_Sequencing.pdf [last accessed April 2013] Google Scholar ]. As a result, ACMG convened a working group to offer recommendations on handling incidental findings in clinical sequencing.