Recommendations for returning genomic incidental findings? We need to talk!

Wylie Burke, Armand H. Matheny Antommaria, Robin Bennett, Jeffrey Botkin, Ellen Wright Clayton, Gail E. Henderson, Ingrid A. Holm, Gail P. Jarvik, Muin J. Khoury, Bartha Maria Knoppers, Nancy A. Press, Lainie Friedman Ross, Mark A. Rothstein, Howard Saal, Wendy R. Uhlmann, Benjamin Wilfond, Susan M. Wolf, Ron Zimmern

    Research output: Contribution to journalArticle

    198 Scopus citations

    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.

    Original languageEnglish (US)
    Pages (from-to)854-859
    Number of pages6
    JournalGenetics in Medicine
    Volume15
    Issue number11
    DOIs
    StatePublished - Nov 2013

    ASJC Scopus subject areas

    • Genetics(clinical)

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  • Cite this

    Burke, W., Matheny Antommaria, A. H., Bennett, R., Botkin, J., Clayton, E. W., Henderson, G. E., Holm, I. A., Jarvik, G. P., Khoury, M. J., Knoppers, B. M., Press, N. A., Ross, L. F., Rothstein, M. A., Saal, H., Uhlmann, W. R., Wilfond, B., Wolf, S. M., & Zimmern, R. (2013). Recommendations for returning genomic incidental findings? We need to talk! Genetics in Medicine, 15(11), 854-859. https://doi.org/10.1038/gim.2013.113