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Incidental and secondary findings from genetic testing

Authors
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

INTRODUCTION

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 incidental findings (IFs) 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 IFs from genetic testing.

An overview of genomic disorders, tools for genomic testing, issues related to genetic counseling, and a glossary of genetic terms are presented separately:

(See "Genomic disorders: An overview".)

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

                    

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Literature review current through: Nov 2016. | This topic last updated: Thu Oct 27 00:00:00 GMT+00:00 2016.
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