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.