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Cancer Predisposition Program Genetic Testing: Analysis of Genetic Testing Outcomes and Procedures

Williams, Elise Garza (2023) Cancer Predisposition Program Genetic Testing: Analysis of Genetic Testing Outcomes and Procedures. Master's Thesis, University of Pittsburgh. (Unpublished)

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The multi-gene panel is the most utilized genetic test for germline cancer predisposition and has been found to lead to greater changes in clinical management than single-gene genetic testing. These panels are dynamic, varying in size, testing capabilities, and consistency. A retrospective chart review was conducted from the UPMC Children’s Hospital of Pittsburgh, Cancer Predisposition Program to explore how these multi-gene panels are being utilized in a pediatric and young adult clinical setting to determine if changes in the size and scope of these panels have impacted clinical care. A review of the corresponding results of multiple rounds of genetic tests was also obtained. Our findings indicate a trend of multi-gene panels growing larger over time with the addition of more genes and found that the yield of actionable test results improved over multiple rounds of testing. This shapes a discussion about the potential to retest individuals who have had previously negative or uninformative testing for panels that have changed in size over time. A lack of homogeneity between genetic testing labs and panels over time was appreciated by this study which signifies a need to discuss the equity of genetic testing panels in the clinical setting within the scope of public health.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Williams, Elise
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorMeade,
Committee MemberDurst, Andreaadurst@pitt.eduadurst
Committee MemberKessler,
Date: 24 August 2023
Date Type: Publication
Defense Date: 7 June 2023
Approval Date: 24 August 2023
Submission Date: 14 August 2023
Access Restriction: 1 year -- Restrict access to University of Pittsburgh for a period of 1 year.
Number of Pages: 75
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: cancer predisposition syndrome, germline genetic testing, genetic testing
Date Deposited: 24 Aug 2023 16:56
Last Modified: 24 Aug 2023 16:56


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