Risk Assessment of Secondary Findings
Document Type
Book Chapter
Publication Date
9-2025
Identifier
DOI: 10.1093/oxfordhb/9780190069964.013.0021
Abstract
Secondary findings are those findings found on exome sequencing (ES) or genome sequencing (GS) that are not related to the primary reason for such testing. Guidelines for providing appropriate counseling for key secondary findings have continued to evolve since the first American College of Medical Genetics and Genomics (ACMG) guidelines were published in 2013, with 81 genes included in the ACMG Secondary Findings (SF) v3.2 iteration of the guidelines. The genes included may be organized into four main categories: genetic cardiovascular diseases, hereditary malignancy syndromes, inborn errors of metabolism, and miscellaneous disorders. Each of these disorders has a unique natural history and need for surveillance and treatment, but all have been included in ACMG SF due to the ability to alter the natural history of the condition in a clinically relevant fashion. Guidelines for reporting of secondary findings will continue to be revised as additional genes/disorders are included and as ES/GS continues to be integrated into routine medical care.
Journal Title
The Oxford Handbook of Genetic Counseling
First Page
431
Last Page
462
Keywords
secondary findings; incidental findings; genome sequencing; exome sequencing; cardiovascular genetics; cancer genetics
Recommended Citation
Rush, Eric T., 'Risk Assessment of Secondary Findings', in Robin E. Grubs, Emily G. Farrow, and Michael J. Deem (eds), Navigating Contemporary Issues in Genetic Testing and Genetic Counseling Practice, in Michael J. Deem, Robin E. Grubs, and Emily G. Farrow (eds), The Oxford Handbook of Genetic Counseling, Oxford Handbooks (2025; online edn, Oxford Academic, 23 Sept. 2025), https://doi.org/10.1093/oxfordhb/9780190069964.013.0021
COinS
