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Barriers to uptake of genetic services in families of pediatric hypertrophic cardiomyopathy patients

Clark, Rebecca (2019) Barriers to uptake of genetic services in families of pediatric hypertrophic cardiomyopathy patients. Master's Thesis, University of Pittsburgh. (Unpublished)

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Hypertrophic cardiomyopathy (HCM) is a common cardiovascular condition that is defined by unexplained left ventricular hypertrophy. A causative pathogenic variant can be detected via molecular testing in the majority of HCM cases. Pediatric HCM cases are typically predicted to be more severe than adult-onset cases and are more likely to be associated with a pathogenic variant. Barriers to genetic testing that have been established by prior studies include individual barriers such as unawareness and/or lack of knowledge regarding genetic services and institutional barriers including healthcare professionals’ lack of awareness and knowledge regarding genetic services. The purpose of the study was to better elucidate the barriers to genetic testing in pediatric HCM patients and their families at UPMC Children’s Hospital of Pittsburgh.
Data was collected via an anonymous survey utilizing Qualtrics software. The survey was distributed through a recruitment letter and several reminder emails that contained survey links. Of the 12 respondents, 7 (58.3%) had pursued genetic testing for their child. Of the 5 participants whose children had not received genetic testing, 4 (80%) expressed interest in pursuing it but had not for reasons including insurance denial, uncertainty regarding how to pursue it, and more pressing health concerns for their child. Lastly, this study identified deficits in respondents’ understanding of GINA.
This study identified several important findings that have public health significance and can be utilized to develop a plan to address barriers to genetic testing within this patient population. To reduce the chance the genetic testing gets denied by insurance, healthcare institutions should make every effort to ensure patients receive an intake, evaluation, education, and consent by a genetic counselor. Additionally, genetic counselors can typically offer alternative finance options by working directly with the lab, to decrease the chance that cost is a barrier. Methods to address this and additional concerns regarding education and awareness within this population can be directed by the newly formed Cardiovascular Genetics Clinic at UPMC Children’s Hospital of Pittsburgh.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Clark, Rebeccarmc113@pitt.edurmc113
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairSebastian,
Committee MemberGrubs,
Committee MemberShaffer,
Committee MemberMoulik,
Date: 24 June 2019
Date Type: Publication
Defense Date: 12 April 2019
Approval Date: 24 June 2019
Submission Date: 2 April 2019
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 112
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: hypertrophic cardiomyopathy, cardiology, genetics, pediatrics
Date Deposited: 24 Jun 2019 14:10
Last Modified: 24 Jun 2019 14:10


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