Return of Incidental Findings in Medical Sequencing: Opt-out Update
ACMG updates recommendation on "opt out" for genome sequencing return of results, [PDF 779.53 KB] April 1, 2014
ACMG changes recommendations on incidental findings and opting out, by Allison Proffitt, April 1, 2014 BIOIT World
CDC paper: Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al. Genetics in Medicine (2013)
Wylie Burke et al. Genetics in Medicine (2013)
Finding common ground
James P. Evans. Genet Med 2013; 15: 852-853
James P. Evans. Genet Med 2013; 15: 852-853
CDC blog post: On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy (2013)
Recommendations for returning genomic incidental findings? We need to talk!
- Wylie Burke MD, PhD,
- Armand H. Matheny Antommaria MD, PhD,
- Robin Bennett MS, CGC,
- Jeffrey Botkin MD, MPH,
- Ellen Wright Clayton MD, JD,
- Gail E. Henderson PhD,
- Ingrid A. Holm MD, MPH,
- Gail P. Jarvik MD, PhD,
- Muin J. Khoury MD, PhD,
- Bartha Maria KnoppersJD, PhD,
- Nancy A. Press PhD,
- Lainie Friedman Ross MD, PhD,
- Mark A. Rothstein JD,
- Howard Saal MD,
- Wendy R. Uhlmann MS, CGC,
- Benjamin Wilfond MD,
- Susan M. Wolf JD
- &Ron Zimmern FRCP, FFPHM
- Genetics in Medicine
- (2013)
- 15,
- 854–859
- doi:10.1038/gim.2013.113
- Received
- Accepted
- Published online
Abstract
The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.
Genet Med 15 11, 854–859.
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