Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic

Author

Annelise Pace, The University of Texas M D Anderson Cancer Center UTHealth Graduate School of Biomedical SciencesFollow

Author ORCID Identifier

0000-0002-8649-3023

Date of Graduation

5-2018

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Ashley Woodson

Committee Member

Eric Jonasch

Committee Member

Molly Daniels

Committee Member

Jennifer Hoskovec

Committee Member

Jennifer Litton

Abstract

Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these patients, including their cancerous and non-cancerous features, the genetic testing strategy for this population, and the probability of having a positive germline mutation if testing is performed. The purpose of this study is to determine the most common indications for ordering genetic testing in a GU Genetics Clinic and evaluate whether there is a relationship between the indication for genetic testing and genetic testing outcome. An institutional review board-approved retrospective chart review was performed for 220 patients seen in the GU Genetics Clinic at M.D. Anderson Cancer Center. Patients were stratified into groups based on their indication for genetic testing and an exact binomial test was used to compare the proportion of patients with a positive genetic test from various groups. The majority of patients (92%) were seen for genetic evaluation related to either renal cell carcinoma (RCC) or prostate cancer. Among patients seen for RCC-related evaluation (N=107), meeting published clinical criteria for a hereditary RCC syndrome significantly predicted positive genetic testing (P

Keywords

genitourinary cancer, renal cell carcinoma, prostate cancer, genetic testing, genetic counseling, multi-gene panel, outcomes, MD Anderson, cancer genetics, hereditary