The clinical utility of the test refers to the likelihood that the test will, by prompting an intervention, result in an improved health outcome. The clinical utility of a genetic test is based on the health benefits related to the interventions offered to people with positive test results. Theoretically, there are at least five strategies that might improve the health outcome of people with a genetic susceptibility to cancer:
- Correction of the underlying genetic defect (not currently available).
- Interventions to reduce the risk of developing cancer.
- Screening to detect early cancer or precancerous lesions.
- Specific treatment for syndrome-related cancers that differs from the treatment generally applied to the sporadic versions of the same cancer (not currently available).
- Interventions to improve quality of life.
Efficacy (capacity to produce an improved health outcome) and effectiveness (likelihood that the improved outcome will occur, taking into account actual use of the intervention and recommended follow-up) should be considered when evaluating interventions. Sometimes genetic information may lead clinicians to consider changes in their approach to clinical management, based on expert opinion, in the absence of proof of clinical utility.