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Practice Guideline
. 2024 Jul;26(7):101142.
doi: 10.1016/j.gim.2024.101142. Epub 2024 May 31.

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Adam S Gordon  1 , Kristy Lee  2 , Noura S Abul-Husn  3 , Laura M Amendola  4 , Kyle Brothers  5 , Wendy K Chung  6 , Michael H Gollob  7 , Steven M Harrison  8 , Ray E Hershberger  9 , C Sue Richards  10 , Douglas R Stewart  11 , Christa Lese Martin  12 , David T Miller  13 ; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net  14
Affiliations
Practice Guideline

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Adam S Gordon et al. Genet Med. 2024 Jul.
No abstract available

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

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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. Noura S. Abul-Husn 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. Laura M. Amendola is a shareholder of Illumina, Inc. Wendy K. Chung is a member of the scientific advisory board of Regeneron Genetics Center and on the Board of Directors of Prime Medicine and Rallybio. Douglas R. Stewart 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 NCI ethics policies. All other authors have no conflicts to disclose.

Figures

Figure 1.
Figure 1.
Balancing different types of evidence for inclusion on the ACMG Secondary Findings List. SF, Secondary Finding.
See this image and copyright information in PMC

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. Nussbaum RL, McInnes RR, Willard HF. Patterns of single-gene inheritance. Thompson & Thompson Genetics in Medicine. Ninth ed. Elsevier; 2023:109–133.
    1. Jarvik GP, Evans JP. Mastering genomic terminology. Genet Med. 2017;19(5):491–492. 10.1038/gim.2016.139 - DOI - PMC - PubMed
    1. Laubichler MD, Sarkar S. Flies, genes, and brains: Oskar Vogt, Nikolai Timoféeff-Ressovsky, and the origin of the concepts of penetrance and expressivity. In Parker LS, Ankeny RA, eds. Mutating Concepts, Evolving Disciplines: Genetics, Medicine, and Society. Kluwer Academic Publishers; 2002: 63–85.
    1. Ott J. Analysis of Human Genetic Linkage. First ed. Johns Hopkins University Press; 1985:151–152.

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