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PURPOSE: The aim of this study was to explore the clinical management of incidental findings. Advances in the speed and sensitivity of genetic technologies have not only improved the diagnostic rate but also result in an increase in unanticipated diagnoses. Recent debate on such "incidental findings" has considered whether or not to actively search for and, then, disclose incidental findings. In our experience, many incidental findings need to be investigated in family members before their clinical significance can be assessed. This adds complexity to the debate about disclosure. METHODS: Using anonymized clinical examples, we illustrate the downstream implications when a result reveals an incidental abnormality of potential clinical significance that is not related to the reasons for doing the test. RESULTS: Our examples illustrate that the determination of clinical significance may require participation of family members in both testing and surveillance. CONCLUSION: The need to investigate multiple relatives in order to decide whether or not a finding is clinically significant has implications for consent and disclosure practices. Communication with, and care for, relatives who have no reason to suspect particular diagnoses is a challenge for any health-care service. These costs also need to be taken into account as genetic testing enters mainstream medicine.

Original publication




Journal article


Genet Med

Publication Date





896 - 899


Adolescent, Adult, Child, Preschool, Comparative Genomic Hybridization, Disclosure, Family, Female, Genetic Testing, Genetics, Medical, Genomics, Humans, Incidental Findings, Male, Middle Aged, Patient Access to Records, Young Adult