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Adherence to Management Recommendations and Initiation of Cascade Genetic Testing in Probands with Hereditary Gastrointestinal Cancer Syndromes

Cioffi, Katherine (2023) Adherence to Management Recommendations and Initiation of Cascade Genetic Testing in Probands with Hereditary Gastrointestinal Cancer Syndromes. Master's Thesis, University of Pittsburgh. (Unpublished)

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Individuals who have a pathogenic variant identified through genetic testing (GT) for hereditary cancer susceptibility are provided with management recommendations and encouraged to share their results with family members at the time of results disclosure. These are recognized approaches to reducing cancer-related morbidity and mortality in probands and their families. Adherence to management recommendations and familial uptake of GT has been found to be suboptimal in hereditary cancer syndromes, though these aspects remain poorly characterized among gastrointestinal (GI) cancer syndromes specifically. Understanding barriers and facilitators to 1) adhering to management recommendations and 2) implementing cascade GT is essential to develop meaningful interventions for improving outcomes in this population. In this study, probands (n=66) from the UPMC Hereditary GI Tumor program were surveyed regarding their adherence to management recommendations made at time of results disclosure and the dissemination/uptake of GT among first- and second-degree relatives (FDRs, SDRs).

Full adherence to management recommendations was low in this population (26.4% of individuals), though adherence to certain screenings (endoscopic ultrasound, colonoscopy, mammography) was high. A substantial number of nonadherent probands did not report having problems completing recommended screenings. Problems cited include confusion over one or more recommendations and scheduling. Probands reported high rates of dissemination to at least one FDR and SDR (98.5 and 71.9% of probands, respectively). GT uptake was lower than dissemination rates, with FDRs and female relatives pursuing GT at higher rates than their counterparts (Chi square p=0.0009, McNemar p=0.0003 and Chi square p=0.0113, McNemar p=0.0217, respectively). Probands who shared the clinic’s family letter reported similar rates of GT uptake for relatives as those who did not. Rates of GT uptake for relatives were also similar regardless of whether the proband discussed free GT programs, though several probands stated these programs were effective in qualitative portions of the survey. These findings suggest the need for targeted interventions to improve adherence to management recommendations (e.g., additional education, referral information, care coordination) and cascade GT uptake (e.g., increased focus on male relatives, increased clinic resources for cascade GT, advocacy for free GT programs).


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Cioffi, Katherinekac449@pitt.edukac449
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairDudley Yurkovich,
Committee MemberBrand, Randallreb53@pitt.edureb53
Committee MemberMai, Phuong L.plm18@pitt.eduplm18
Committee MemberFeingold,
Date: 9 May 2023
Date Type: Publication
Defense Date: 7 April 2023
Approval Date: 9 May 2023
Submission Date: 23 April 2023
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 79
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: hereditary cancer syndromes hereditary gastrointestinal cancer Lynch syndrome management adherence cascade genetic testing
Date Deposited: 10 May 2023 02:52
Last Modified: 10 May 2023 02:52


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