Abstract

Genetic counseling in the pediatric oncology setting involves unique challenges. Various ethical and psychosocial considerations must be taken into account when evaluating minors for hereditary cancer syndromes. Factors that often must be addressed in this setting include issues surrounding if and when to consider genetic testing in affected individuals, limited data and guidelines regarding surveillance or management, predictive testing in at risk minor relatives, access to care, and family dynamics. This paper reviews some of the important considerations for genetic counseling in the pediatric cancer genetics setting using examples from Li–Fraumeni syndrome, constitutional mismatch repair deficiency syndrome, SDH-related hereditary paraganglioma and pheochromocytoma, hereditary retinoblastoma, and familial adenomatous polyposis. Common genetic counseling challenges include identifying appropriate patients for evaluation, helping families with genetic testing decisions and options, determining appropriate clinical management, and incorporating the future directions of hereditary cancer syndromes in pediatric care.

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