Secondary and Incidental Findings in Genetic Testing

SECONDARY AND INCIDENTAL FINDINGS IN GENETIC TESTING: The National Society of Genetic Counselors strongly advises pre-test counseling that facilitates informed decision-making, elicits patient preferences regarding secondary and/or incidental findings if possible, and formulates a plan for returning such results before testing occurs. 

Germline and somatic genetic testing, in both clinical and research contexts, may identify secondary findings and incidental findings as a part of the test performed. Secondary findings are purposely analyzed as part of the test, but unrelated to the primary testing indication. Incidental findings are detected unexpectedly during the analysis, and also unrelated to the primary testing indication. Both of these types of variants may be disclosed as a part of the return-of-results process.

The pre-test counseling process should establish clear expectations for what categories of results will and will not be returned. Healthcare practitioners conducting the informed consent and return-of-results processes for broad genomic testing and screening should ensure that their patients have access to practitioners with genetic expertise, such as genetic counselors.


Revised March 2020.

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