From the Research
Testing for BRCA1 mutations in pediatric patients with a family history is generally not recommended before the age of 18, except in rare circumstances. The primary reason for this guideline is that BRCA1-associated cancers typically do not occur during childhood, and management strategies (such as enhanced screening or risk-reducing surgeries) are not implemented until adulthood 1. Testing should be deferred until the individual can make an autonomous, informed decision about genetic testing and its implications. Exceptions might include situations where test results would impact immediate medical management during childhood, but these cases are extremely uncommon for BRCA1.
Key Considerations
- BRCA1-associated cancers are rare in childhood, and the benefits of early testing do not outweigh the potential risks and psychological impact on the child 2, 3.
- Management strategies for BRCA1 mutation carriers, such as enhanced screening and risk-reducing surgeries, are typically not implemented until adulthood 4, 5.
- Genetic counseling for adult relatives and thorough documentation of family history are essential for identifying individuals at risk and ensuring they have access to appropriate counseling and testing when they reach adulthood 5, 1.
Recommendations
- Families should focus on genetic counseling for adult relatives and documenting the family history thoroughly, rather than pursuing testing in pediatric patients 5, 1.
- Pediatric patients with a family history of BRCA1 mutations should have access to appropriate counseling and testing when they reach adulthood, allowing them to make informed decisions about their care 1.
- Exceptions to this guideline may include situations where test results would impact immediate medical management during childhood, but these cases are extremely uncommon and require careful consideration on a case-by-case basis 2, 3.