Making Sense of Missense: Assessing and Incorporating the Functional Impact of Constitutional Genetic Testing

Background/Objectives: With the emergence of accessible and affordable next-generation sequencing platforms, pediatric oncologists are now accountable to diligently ascertain genetic causes of cancer, with an amenable opportunity to test for cancer predisposition syndromes. Methods: This study incorporates triangulated interviews of family members diagnosed with Li-Fraumeni syndrome through clinical TP53 testing. The interview content was coded using NVivo 10.0 software to determine psychosocial themes relevant to genetic testing, diagnosis, and surveillance. Results: Interview content revealed opportunities to apply social themes analogous to TP53 biologic language. Conclusions: This report models the systematic inclusion of patient, parent, and health care provider perspectives when testing individuals for familial cancer predisposition syndromes.