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Secondary findings from genetic testing

Kurt Christensen, MPH, PhD
Sarah S Kalia, ScM, CGC
Robert C Green, MD, MPH
Section Editor
Benjamin A Raby, MD, MPH
Deputy Editor
Jennifer S Tirnauer, MD


The increasing use and capabilities of genomic tools such as whole genome sequencing and exome sequencing raise important questions about how to handle health-related information that may inform prevention or treatment strategies, but are unrelated to the reasons testing was ordered. The questions of whether – and how – to disclose these secondary findings (also called incidental findings) from genetic testing have generated much debate, and the importance of how these questions are answered is expected to grow as laboratories and physicians transition to whole genome and whole exome sequencing rather than targeted gene panels.

This topic review discusses an approach to the disclosure of secondary findings from genetic testing.

Overviews of related subjects are presented separately:

Genomic disorders – (See "Genomic disorders: An overview".)

Next generation DNA sequencing – (See "Principles and clinical applications of next-generation DNA sequencing".)

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Literature review current through: Nov 2017. | This topic last updated: Oct 02, 2017.
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