Udiaver, Aparna
(2024)
International assessment of Lynch syndrome screening practices.
Master Essay, University of Pittsburgh.
Abstract
Lynch syndrome (LS) is an inherited cancer syndrome that increases risk of developing certain cancers, most commonly colorectal and endometrial. It is important to distinguish between LS and sporadic cancers because it can help inform the risk of additional cancers as well as identify relatives who may also be at risk of developing LS-associated cancers. In the US, there has been considerable effort by organizations including the Lynch Syndrome Screening Network (LSSN) to promote universal tumor screening as part of routine diagnosis of colon and endometrial cancers to identify more cases of LS. However, it is unclear what LS screening practices currently exist internationally.
In order to characterize global LS screening practices with regards to screening of colorectal cancer tumors, this study implemented a survey to capture screening procedures and methods, cascade testing, and efficacy measures. The online survey was distributed to individuals at member organizations of LSSN, members of the International Society for Gastrointestinal Hereditary Tumors (InSiGHT), and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC). Additionally, two interview guides were developed depending on whether survey respondents’ organizations had a routine LS screening program or not. This was done by creating open-ended questions based on survey questions. This will support future work in elucidating how barriers and facilitators, such as insurance and social factors, may inform LS screening practices.
There were 27 survey respondents from seven countries: Canada, US, Denmark, Ireland, Netherlands, UK, and Japan. Some key findings from the survey showed that no institutions offer only direct-to-germline testing, 92.6% of responding institutions perform universal tumor screening, 81.5% of institutions use a patient-mediated method of informing relatives about cascade testing, and 48.1% of institutions systematically track LS detection rates. The public health significance of this project is that it identifies ways in which resources developed by LSSN could be leveraged to facilitate implementation of LS screening programs (especially universal tumor screening) world-wide and provide guidance on how population-specific improvements could be made to current screening programs. Ultimately, this will help to increase LS diagnoses and reduce the burden that LS can have in families globally.
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Details
| Item Type: |
Other Thesis, Dissertation, or Long Paper
(Master Essay)
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| Status: |
Unpublished |
| Creators/Authors: |
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| Contributors: |
| Contribution | Contributors Name | Email | Pitt Username | ORCID  |
|---|
| Committee Chair | Hunter, Jessica Ezzell | jehunter@rti.org | UNSPECIFIED | UNSPECIFIED | | Committee Member | Durst, Andrea L | adurst@pitt.edu | adurst | UNSPECIFIED | | Committee Member | Buchanich, Jeanine M | jeanine@pitt.edu | jeanine | UNSPECIFIED |
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| Date: |
13 May 2024 |
| Date Type: |
Completion |
| Submission Date: |
24 April 2024 |
| Access Restriction: |
No restriction; Release the ETD for access worldwide immediately. |
| Number of Pages: |
78 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Public Health > Public Health Genetics |
| Degree: |
MPH - Master of Public Health |
| Thesis Type: |
Master Essay |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
Lynch syndrome, colorectal cancer, universal screening, public health genetics, international |
| Date Deposited: |
13 May 2024 18:45 |
| Last Modified: |
13 May 2024 18:45 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/46278 |
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