lunes, 5 de agosto de 2013

Genome Sequencing Return of Findings: We Need to Talk!

Features of the Week

Genome Sequencing Return of Findings: We Need to Talk!

whole genome sequencing
CDC paper: Recommendations for returning genomic incidental findings?  We need to talk!External Web Site Icon
Wylie Burke et al. Genetics in Medicine 2013 Aug 1
CDC blog post:  On the importance of a policy framework to guide an evidence-based approach to incorporate genome sequencing technology into health care and public health
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptionalExternal Web Site Icon
Robert C. Green, et al. JAMA. 2013;310(4):365-366.
Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision makingExternal Web Site Icon
Lainie Friedman Ross, et al. JAMA. 2013;310(4):367-368.

Return of secondary genomic findings vs patient autonomy: Implications for medical careExternal Web Site Icon
Robert Klitzman, et al. JAMA. 2013;310(4):369-370.
Incidental swimming with millstones.External Web Site Icon
Stephen F. Kingsmore Sci Transl Med 17 July 2013

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

Genetics in Medicine
Published online


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 advance online publication 1 August 2013


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Author information


  1. Department of Bioethics and Humanities, University of Washington, Seattle, Washington, USA

    • Wylie Burke
  2. Ethics Center, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA

    • Armand H. Matheny Antommaria
  3. Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA

    • Robin Bennett &
    • Gail P. Jarvik
  4. Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA

    • Jeffrey Botkin
  5. Center for Biomedical Ethics and Society and School of Law, Vanderbilt University, Nashville, Tennessee, USA

    • Ellen Wright Clayton
  6. Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA

    • Gail E. Henderson
  7. Division of Genetics, Boston Children’s Hospital, Boston, Massachusetts, USA

    • Ingrid A. Holm
  8. The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, USA

    • Ingrid A. Holm
  9. Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA

    • Ingrid A. Holm
  10. Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA

    • Muin J. Khoury
  11. Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada

    • Bartha Maria Knoppers
  12. Schools of Nursing and Medicine, Oregon Health and Science University, Portland, Oregon, USA

    • Nancy A. Press
  13. Department of Pediatrics and the MacLean Center for Clinical Medical Ethics, University of Chicago, Chicago, Illinois, USA

    • Lainie Friedman Ross
  14. Institute for Bioethics, Health Policy and Law, University of Louisville School of Medicine, Louisville, Kentucky, USA

    • Mark A. Rothstein
  15. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA

    • Howard Saal
  16. Division of Molecular Medicine and Genetics, Department of Internal Medicine and Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA

    • Wendy R. Uhlmann
  17. Treuman Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute and Department of Pediatrics, University of Washington, Seattle, Washington, USA

    • Benjamin Wilfond
  18. Law School, Medical School, and Center for Bioethics, University of Minnesota, Minneapolis, Minnesota, USA

    • Susan M. Wolf
  19. Foundation for Genomics and Population Health, Cambridge, UK

    • Ron Zimmern

Corresponding author

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