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

## TL;DR

This paper explores the impact of diagnosing cancer predisposition syndromes in children and the psychosocial effects on families.

## Contribution

The study introduces a systematic approach to include patient, parent, and provider perspectives in genetic testing for cancer predisposition.

## Key findings

- Interviews revealed psychosocial themes relevant to genetic testing and diagnosis.
- The study models the inclusion of multiple perspectives in familial cancer predisposition testing.
- Findings suggest a need for longitudinal support for families receiving cancer predisposition diagnoses.

## Abstract

What are the main findings?
Assessing families for cancer predisposition syndromes is an increasingly common practice in pediatric oncology.Testing for cancer-predisposition syndromes in pediatric oncology enables cancer surveillance, helps tailor and inform cancer-directed treatments, and may assist in family risk assessment.

Assessing families for cancer predisposition syndromes is an increasingly common practice in pediatric oncology.

Testing for cancer-predisposition syndromes in pediatric oncology enables cancer surveillance, helps tailor and inform cancer-directed treatments, and may assist in family risk assessment.

What is the implication of the main finding?
Receiving a diagnosis of a cancer predisposition syndrome can be a complex experience with practical, existential, and psychosocial implications for patients and their families.Consideration should be given to each family’s experience in receiving a cancer predisposition diagnosis, for both their immediate processing of the diagnosis and subsequent need for longitudinal support.

Receiving a diagnosis of a cancer predisposition syndrome can be a complex experience with practical, existential, and psychosocial implications for patients and their families.

Consideration should be given to each family’s experience in receiving a cancer predisposition diagnosis, for both their immediate processing of the diagnosis and subsequent need for longitudinal support.

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.