Williams, Elise Garza
(2023)
Cancer Predisposition Program Genetic Testing: Analysis of Genetic Testing Outcomes and Procedures.
Master's Thesis, University of Pittsburgh.
(Unpublished)
Abstract
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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Details
| Item Type: |
University of Pittsburgh ETD
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| Status: |
Unpublished |
| Creators/Authors: |
|
| ETD Committee: |
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| 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 2024 05:15 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/45340 |
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