ACMG SF v3.2 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 Miller¹, Kristy Lee², Noura S Abul-Husn³, Laura M Amendola⁴, Kyle Brothers⁵, Wendy K Chung⁶, Michael H Gollob⁷, Adam S Gordon⁸, Steven M Harrison⁹, Ray E Hershberger¹⁰, Teri E Klein¹¹, C Sue Richards¹², Douglas R Stewart¹³, Christa Lese Martin¹⁴; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net¹⁵

Affiliations

¹ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
² Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC.
³ Department of Medicine, Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; 23andMe, Inc., Sunnyvale, CA.
⁴ Illumina, Inc., San Diego, CA.
⁵ Department of Pediatrics, University of Louisville, Louisville, KY.
⁶ Departments of Pediatrics and Medicine, Columbia University, New York, NY.
⁷ Division of Cardiology, Department of Physiology, University of Toronto, Toronto, ON, Canada.
⁸ Department of Pharmacology, Center for Genetic Medicine, Northwestern University, Chicago, IL.
⁹ Ambry Genetics, Aliso Viejo, CA.
¹⁰ Divisions of Human Genetics and Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH.
¹¹ Departments of Biomedical Data Science and Medicine, Stanford University, Stanford, CA.
¹² Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR.
¹³ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
¹⁴ Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
¹⁵ American College of Medical Genetics and Genomics, Bethesda, MD.

PMID: 37347242
PMCID: PMC10524344
DOI: 10.1016/j.gim.2023.100866

Practice Guideline

ACMG SF v3.2 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. 2023 Aug.

. 2023 Aug;25(8):100866.

doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22.

Authors

Affiliations

¹ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
² Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC.
³ Department of Medicine, Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; 23andMe, Inc., Sunnyvale, CA.
⁴ Illumina, Inc., San Diego, CA.
⁵ Department of Pediatrics, University of Louisville, Louisville, KY.
⁶ Departments of Pediatrics and Medicine, Columbia University, New York, NY.
⁷ Division of Cardiology, Department of Physiology, University of Toronto, Toronto, ON, Canada.
⁸ Department of Pharmacology, Center for Genetic Medicine, Northwestern University, Chicago, IL.
⁹ Ambry Genetics, Aliso Viejo, CA.
¹⁰ Divisions of Human Genetics and Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH.
¹¹ Departments of Biomedical Data Science and Medicine, Stanford University, Stanford, CA.
¹² Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR.
¹³ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
¹⁴ Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
¹⁵ American College of Medical Genetics and Genomics, Bethesda, MD.

PMID: 37347242
PMCID: PMC10524344
DOI: 10.1016/j.gim.2023.100866

Abstract

Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures. Where individual authors are listed, the views expressed may not reflect those of authors’ employers or affiliated institutions.

Keywords: Exome sequencing; Genome sequencing; Incidental findings; Secondary findings.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest Funding and support listed here did not support development of this document unless included in the Acknowledgments section. N.S.A.-H. is an equity holder of 23andMe; serves as a scientific advisory board member for Allelica; received personal fees from Genentech, Allelica, and 23andMe; received research funding from Akcea; and was previously employed by Regeneron Pharmaceuticals. W.K.C. is a member of the scientific advisory board of Regeneron Genetics Center. D.T.M. has received an honorarium from Ambry Genetics. D.R.S. is supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute, Rockville, MD, and also performs contract clinical telehealth services for Genome Medical, Inc., in accordance with relevant National Cancer Institute ethics policies. All other authors declare no conflicts of interest.

References

1. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15(7):565–574. 10.1038/gim.2013.73 - DOI - PMC - PubMed
1. Kalia SS, Adelman K, Bale SJ, 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 2017;19(2):249–255. 10.1038/gim.2016.190 - DOI - PubMed
1. Miller DT, Lee K, Gordon AS, 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 2021;23(8):1391–1398. 10.1038/s41436-021-01171-4 - DOI - PubMed
1. Miller DT, Lee K, Chung WK, et al. 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) Genet Med 2021;23(8):1381–1390. 10.1038/s41436-021-01172-3 - DOI - PubMed
1. Miller DT, Lee K, Abul-Husn NS et al. ACMG SF v3.1 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) Genet Med 2022;24(7):1407–1414. 10.1016/j.gim.2022.04.006 - DOI - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Grants and funding

LinkOut - more resources

Full Text Sources
- Elsevier Science
- PubMed Central
Other Literature Sources
- The Lens - Patent Citations Database

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

ACMG SF v3.2 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)

Affiliations

ACMG SF v3.2 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)

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources