Year: 2013
Type: article
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.
DOI: 10.17615/2w6b-9873
Authors: Burke, Wylie, Matheny Antommaria, Armand H., Bennett, Robin, Botkin, Jeffrey, Clayton, Ellen Wright, Henderson, Gail E., Holm, Ingrid A., Jarvik, Gail P., Khoury, Muin J., Knoppers, Bartha Maria, Press, Nancy A., Ross, Lainie Friedman, Rothstein, Mark A., Saal, Howard, Uhlmann, Wendy R., Wilfond, Benjamin, Wolf, Susan M., Zimmern, Ron
Institutions: University of Washington, Cincinnati Children's Hospital Medical Center, University of Utah, Vanderbilt University, Vanderbilt University Medical Center, University of North Carolina at Chapel Hill, Boston Children's Hospital, Centers for Disease Control and Prevention, Office of Public Health Genomics, McGill University, Oregon Health & Science University, University of Chicago, University of Louisville, University of Michigan, Seattle Children's Research Institute, Treuman Katz Center for Pediatric Bioethics and Palliative Care, University of Minnesota, American College of Medical Genetics
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3123623502