Date of Award

January 2023

Document Type

Open Access Thesis

Degree Name

Master of Public Health (MPH)

Department

School of Public Health

First Advisor

Andrew DeWan

Abstract

Germline mutations in the TP53 gene confer increased risk of diverse malignancies in children and adults in the Li Fraumeni cancer susceptibility syndrome, a rare condition with estimated prevalence of about 1 in 3,555 in the population. The Prospective Registry of Multiplex Testing (PROMPT) study is a registry of individuals undergoing genetic testing for inherited cancer susceptibility using multi-gene panels regardless of test results and agreeing to participate in questionnaire studies about their experience. The purpose of this study was to investigate how the psychosocial experience of genetic testing and level of genetic understanding and knowledge differs for those who have a variant of uncertain significance (VUS) compared to those with a pathogenic TP53 variant. We evaluated data from 69 eligible participants from the PROMPT Study. Using an electronic survey, we assessed their TP53 knowledge and understanding with the KnowGene instrument, as well as their psychosocial experiences with the FACToR subscales. Differences in instrument performance were evaluated by variant class. Respondents with a pathogenic variant (those with Li-Fraumeni syndrome, “LFS”) had significantly higher levels of distress compared to those with a VUS. Respondents with a pathogenic variant had moderately higher levels of genetic knowledge and understanding compared to those with a VUS. This exploratory project demonstrates the need for more comprehensive work assessing the burden of LFS on individuals testing positive for pathogenic variants in the TP53 gene on germline genetic evaluation.

Comments

This is an Open Access Thesis.

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