lunes, 1 de julio de 2013

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing : Genetics in Medicine : Nature Publishing Group

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing : Genetics in Medicine : Nature Publishing Group

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Genetics in Medicine
Published online


In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including an open forum at the 2012 Annual Meeting and review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. The ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the “normal” of tumor-normal subtractive analyses in all subjects, irrespective of age but excluding fetal samples. We recognize that there are insufficient data on penetrance and clinical utility to fully support these recommendations, and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
Genet Med advance online publication 20 June 2013


genome; genomic medicine; incidental findings; personalized medicine; secondary findings; sequencing; whole exome; whole genome


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Author information


  1. Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA

    • Robert C. Green &
    • Sarah S. Kalia
  2. Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA

    • Robert C. Green &
    • Heidi L. Rehm
  3. Department of Genetics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA

    • Jonathan S. Berg &
    • Julianne M. O’Daniel
  4. Division of Medical Genetics, Department of Human Genetics, UCLA School of Medicine, Los Angeles, California, USA

    • Wayne W. Grody
  5. Division of Molecular Pathology, Department of Pathology & Laboratory Medicine, UCLA School of Medicine, Los Angeles, California, USA

    • Wayne W. Grody
  6. Division of Pediatric Genetics, Department of Pediatrics, UCLA School of Medicine, Los Angeles, California, USA

    • Wayne W. Grody
  7. Department of Genetics, University of Alabama, Birmingham, Alabama, USA

    • Bruce R. Korf
  8. Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA

    • Christa L. Martin
  9. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA

    • Amy L. McGuire
  10. Division of Genomic Medicine, Department of Medicine, and Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA

    • Robert L. Nussbaum
  11. Department of Genetics, Stanford University, Stanford, California, USA

    • Kelly E. Ormond
  12. Department of Pathology, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA

    • Heidi L. Rehm
  13. American College of Medical Genetics and Genomics, Bethesda, Maryland, USA

    • Michael S. Watson
  14. Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA

    • Marc S. Williams
  15. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

    • Leslie G. Biesecker
  16. Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetic services. Adherence to these recommendations does not necessarily ensure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these recommendations.

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