ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

David T Miller^#¹, Kristy Lee^#², Wendy K Chung³, Adam S Gordon⁴, Gail E Herman⁵, Teri E Klein⁶, Douglas R Stewart⁷, Laura M Amendola⁸, Kathy Adelman⁹, Sherri J Bale¹⁰, Michael H Gollob¹¹, Steven M Harrison¹², Ray E Hershberger¹³, Kent McKelvey¹⁴, C Sue Richards¹⁵, Christopher N Vlangos¹⁶, 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 Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
⁴ Department of Pharmacology & Center for Genetic Medicine, Northwestern University, Chicago, IL, USA.
⁵ Professor Emeritus, Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
⁶ Departments of Biomedical Data Science & Medicine, Stanford University, Stanford, CA, USA.
⁷ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
⁸ Division of Medical Genetics, University of Washington, Seattle, WA, USA.
⁹ Patient Advocate, Livermore, CA, USA.
¹⁰ Bale Genetic Consulting, Chevy Chase, MD, USA.
¹¹ Division of Cardiology and Department of Physiology, University of Toronto, Toronto, ON, Canada.
¹² Broad Institute of MIT and Harvard, Cambridge, MA, USA.
¹³ Divisions of Human Genetics and Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
¹⁴ Departments of Genetics and Family Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
¹⁵ Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
¹⁶ Tempus Labs, Inc., Chicago, IL, USA.
¹⁷ Self-employed, Washington, DC, USA.
¹⁸ Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

^# Contributed equally.

PMID: 34012068
DOI: 10.1038/s41436-021-01172-3

Free article

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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

Free article

. 2021 Aug;23(8):1381-1390.

doi: 10.1038/s41436-021-01172-3. 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 Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
⁴ Department of Pharmacology & Center for Genetic Medicine, Northwestern University, Chicago, IL, USA.
⁵ Professor Emeritus, Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
⁶ Departments of Biomedical Data Science & Medicine, Stanford University, Stanford, CA, USA.
⁷ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
⁸ Division of Medical Genetics, University of Washington, Seattle, WA, USA.
⁹ Patient Advocate, Livermore, CA, USA.
¹⁰ Bale Genetic Consulting, Chevy Chase, MD, USA.
¹¹ Division of Cardiology and Department of Physiology, University of Toronto, Toronto, ON, Canada.
¹² Broad Institute of MIT and Harvard, Cambridge, MA, USA.
¹³ Divisions of Human Genetics and Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
¹⁴ Departments of Genetics and Family Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
¹⁵ Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
¹⁶ Tempus Labs, Inc., Chicago, IL, USA.
¹⁷ Self-employed, Washington, DC, USA.
¹⁸ Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

^# Contributed equally.

PMID: 34012068
DOI: 10.1038/s41436-021-01172-3

Erratum in

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, Stewart DR, Amendola LM, Adelman K, Bale SJ, Gollob MH, Harrison SM, Hershberger RE, McKelvey K, Richards CS, Vlangos CN, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Miller DT, et al. Genet Med. 2021 Aug;23(8):1582-1584. doi: 10.1038/s41436-021-01278-8. Genet Med. 2021. PMID: 34345026 Free PMC article. No abstract available.

No abstract available

PubMed Disclaimer

Comment in

Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al.
McGurk KA, Zheng SL, Henry A, Josephs K, Edwards M, de Marvao A, Whiffin N, Roberts A, Lumbers TR, O'Regan DP, Ware JS. McGurk KA, et al. Genet Med. 2022 Mar;24(3):744-746. doi: 10.1016/j.gim.2021.10.020. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906520 No abstract available.
Response to McGurk et al.
Gollob MH, Hershberger RE, Gordon AS, Harrison SM, Lee K, Martin CL, Miller DT; ACMG Secondary Findings Working Group. Gollob MH, et al. Genet Med. 2022 Mar;24(3):747-748. doi: 10.1016/j.gim.2021.10.021. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906521 No abstract available.

References

1. Green, R. C. et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15, 565–574 (2013). - DOI
1. Kalia, S. S. 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). - DOI
1. Miller, D. T. et al. 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). Genet. Med. https://doi.org/10.1038/s41436-021-01171-4 (2021).
1. Clinical Genome Resource. https://clinicalgenome.org/ (2018).
1. eMERGE Consortium. Harmonizing clinical sequencing and interpretation for the eMERGE III Network. Am. J. Hum. Genet. 105, 588–605 (2019). - DOI

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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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