These Are Not the Genes You Are Looking For: Incidental Findings Identified as a Result of Genetic Testing
- DOI:
- 10.1093/med/9780199944897.003.0005
The field of medical genetics has recently undergone a paradigm shift. A genome-first approach to disease identification has started to emerge as untargeted genetic analysis, such as exome sequencing, has been increasingly adopted in the clinic and laboratory. A new model for disclosure of incidental findings must be identified. Ideally, pretest education should emphasize the type of results that may be identified and the patient’s preferences for return of results should be established during the informed consent process. If an incidental finding is identified without pretest counseling, the genetic provider should evaluate both the benefit and possible harm of disclosing the result. In general, a strong obligation exists to disclose results that may be of benefit to the patient such as possible treatments options, recommendations for early screening, or results with reproductive implications.
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