Incidental / Secondary Findings

By sequencing all genes (exome/genome sequencing), we might find disease-causing mutations in genes unrelated to the patient’s actual phenotype, which may cause severe health problems (e.g., mutations causing susceptibility to cancer or certain heart diseases). These are called incidental findings (or secondary findings). For example, we might find a breast cancer-predisposing mutation in a patient tested for thoracic aortic aneurysm (e.g., a BRCA1 mutation). If the patient has previously given consent, the breast-cancer mutation will also be reported in such a case. Incidental findings are relatively infrequent, as they may be detected in just 1-3% of patients. It should be reminded that an incidental finding may be of relevance also for the patient’s consanguineous (e.g., parents and siblings), as they may carry the same genetic variant.

The American College of Medical Genetics has issued a list of genes for which incidental findings should be reported. The last update includes the following genes: