Managing incidental findings: guidance for rare and inherited disease diagnostic genomic testing
This guidance for rare and inherited disease diagnostic genomic testing has been developed to support clinicians requesting genomic tests and scientists working in genomic laboratories within the NHS. It provides a framework for the reporting of incidental findings with case examples and a cancer susceptibility gene list. Decision-making in accordance with guidelines will achieve greater consistency than case-by-case decisions
Executive summary
Genomic testing will occasionally identify a genetic variant or other finding that is not related to the reason for testing. Such incidental findings may be relevant to the patient undergoing testing or to their family members.
Clinicians should include the possibility of incidental findings with a patient/parent(s) in the pre-genomic testing discussion.
Decisions regarding the reporting of a genetic variant unrelated to the referral reason will depend upon clinical actionability, penetrance and the variant classification. Pathogenic variants may be reported if there is evidence of high penetrance and available treatment or surveillance that is likely to improve clinical outcome.
Testing large gene panels increases the likelihood of revealing carrier status for autosomal recessive disorders unrelated to the reason for testing. Reporting incidental carrier status for autosomal recessive conditions is not recommended.
This guidance provides a framework for the reporting of incidental findings with case examples and a cancer susceptibility gene list. Decision-making in accordance with guidelines will achieve greater consistency than case-by case decisions.
Loading...