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Secondary Genomic Finding

updated: July 17, 2024


A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome. In certain cases, a secondary genomic finding might offer clinicians the chance to identify a previously unrecognized risk for disease that could change the medical management of that patient and potentially prevent or more effectively treat the disease.


Secondary genomic finding. Secondary findings are in a way an added bonus for having a person's genome examined for some disease or symptom they may be having. It's sort of like finding a spot on a chest x-ray done for some other reason in time to identify and remove an early cancer or finding an unusually low blood count in a test looking for signs of an infection. About 1 in 25 people who have their genome analyzed will have a variant that suggests doctors should change something about their care, such as looking more carefully for a cancer or heart condition or inserting a specialized kind of pacemaker to prevent sudden death. Sometimes secondary findings are things people would prefer not to know about, such as risk of a disease that has no treatment, so they should understand the chances of such findings before their genome is examined.

Teri Manolio
Teri Manolio, M.D., Ph.D.


Division of Genomic Medicine