Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

David T Miller¹, Kristy Lee², Adam S Gordon³, Laura M Amendola⁴, Kathy Adelman⁵, Sherri J Bale⁶, Wendy K Chung⁷, Michael H Gollob⁸, Steven M Harrison⁹, Gail E Herman¹⁰, Ray E Hershberger¹¹, Teri E Klein¹², Kent McKelvey¹³, C Sue Richards¹⁴, Christopher N Vlangos¹⁵, Douglas R Stewart¹⁶, Michael S Watson¹⁷, Christa Lese Martin¹⁸; ACMG Secondary Findings Working Group

Affiliations

¹ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
² Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
³ Department of Pharmacology & Center for Genetic Medicine, Northwestern University, Chicago, IL, USA.
⁴ Division of Medical Genetics, University of Washington, Seattle, WA, USA.
⁵ Patient Advocate, Livermore, CA, USA.
⁶ Bale Genetic Consulting, Chevy Chase, MD, USA.
⁷ Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
⁸ Division of Cardiology and Department of Physiology, University of Toronto, Toronto, ON, Canada.
⁹ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
¹⁰ Professor Emeritus, Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
¹¹ Divisions of Human Genetics and Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
¹² Departments of Biomedical Data Science & Medicine, Stanford University, Stanford, CA, USA.
¹³ Departments of Genetics and Family Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
¹⁴ Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
¹⁵ Tempus Labs, Inc., Chicago, IL, USA.
¹⁶ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
¹⁷ Self-employed, Washington, DC, USA.
¹⁸ Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

PMID: 34012069
PMCID: PMC12175738
DOI: 10.1038/s41436-021-01171-4

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

David T Miller et al. Genet Med. 2021 Aug.

. 2021 Aug;23(8):1391-1398.

doi: 10.1038/s41436-021-01171-4. Epub 2021 May 20.

Authors

Affiliations

¹ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
² Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
³ Department of Pharmacology & Center for Genetic Medicine, Northwestern University, Chicago, IL, USA.
⁴ Division of Medical Genetics, University of Washington, Seattle, WA, USA.
⁵ Patient Advocate, Livermore, CA, USA.
⁶ Bale Genetic Consulting, Chevy Chase, MD, USA.
⁷ Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
⁸ Division of Cardiology and Department of Physiology, University of Toronto, Toronto, ON, Canada.
⁹ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
¹⁰ Professor Emeritus, Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
¹¹ Divisions of Human Genetics and Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
¹² Departments of Biomedical Data Science & Medicine, Stanford University, Stanford, CA, USA.
¹³ Departments of Genetics and Family Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
¹⁴ Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
¹⁵ Tempus Labs, Inc., Chicago, IL, USA.
¹⁶ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
¹⁷ Self-employed, Washington, DC, USA.
¹⁸ Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

PMID: 34012069
PMCID: PMC12175738
DOI: 10.1038/s41436-021-01171-4

No abstract available

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Figures

**Fig. 1. Evaluation process for genes nominated for addition to, or removal from, the American College of Medical Genetics and Genomics (ACMG) secondary findings SF list.**
This diagram summarizes the ACMG Secondary Findings Maintenance Working Group (SFWG) process for nomination and consideration of genes potential inclusion on the v3.0 SF list. The SFWG referred to lists from other groups assessing actionability of genes along with gene-phenotype pairs considered for previous versions of the SF list. Candidate genes were triaged by SFWG subgroup members to prioritize genes based on the strength of available evidence, and nomination forms were created for those prioritized gene-phenotype pairs. All completed nomination forms, either from SFWG members or the community, were discussed by the full SFWG. All gene-phenotype pairs were assessed based on the criteria described in Table 1.

See this image and copyright information in PMC

References

1. Green RC et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15, 565–574 (2013). - PMC - PubMed
1. Kalia SS et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet. Med. 19, 249–255 (2017). - PubMed
1. Scheuner MT et al. Reporting genomic secondary findings: ACMG members weigh in. Genet. Med. 17, 27–35 (2015). - PubMed
1. ACMG. Secondary findings nomination form. https://www.acmg.net/PDFLibrary/Secondary-Findings-Panel-Nomination-Form... (2021).
1. Amendola LM et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 25, 305–315 (2015). - PMC - PubMed

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Affiliations

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Authors

Affiliations

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources