Outcomes of Genetic Testing In A Genitourinary Genetics Clinic

<p>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 (<em>P</em></p>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2018

Authors dc:creator

• Pace, Annelise
• <p>0000-0002-8649-3023</p>

Contributors dc:contributor

• Ashley Woodson
• Eric Jonasch
• Molly Daniels

• genitourinary cancer
• renal cell carcinoma
• prostate cancer
• genetic testing
• genetic counseling
• multi-gene panel
• outcomes
• MD Anderson
• cancer genetics
• hereditary
• Counseling
• Genetics
• Male Urogenital Diseases
• Medical Genetics
• Medicine and Health Sciences
• Neoplasms
• Oncology

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/866

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-1911