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Perceived Value of Non-Diagnostic Genetic Testing in Hypermobile Patients

Slizewska, Gabriela (2024) Perceived Value of Non-Diagnostic Genetic Testing in Hypermobile Patients. Master's Thesis, University of Pittsburgh. (Unpublished)

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The Ehlers-Danlos Syndromes (EDS), a group of heritable connective tissue disorders (CTDs), are characterized by joint hypermobility, tissue fragility, and skin hyperextensibility, but can have wide-ranging features. Hypermobile EDS (hEDS) is the most common and the only type without a known genetic cause. A clinical diagnosis is established if comprehensive criteria are met, but variable and nonspecific symptoms make this challenging. Patients who do not meet criteria for hEDS may be diagnosed with hypermobility spectrum disorder (HSD) instead. Patients with hEDS and HSD face long and challenging diagnostic journeys, often compounded by limitations in daily life and diminished quality of life due to their illness. Despite known genetic causes of many CTDs, hypermobile patients are not always offered genetic counseling or testing. While genetic testing is not diagnostic for these conditions, it can help rule out other heritable CTDs. Removing other heritable causes may help establish a clinical diagnosis of hEDS or HSD, exclude features specific to other CTDs, and direct patients to appropriate specialists for treatment of symptoms. hEDS and HSD are thought to be underdiagnosed and more common than previously estimated. Meanwhile, patients experience medical trauma while trying to obtain care, delays in diagnosis, and low provider understanding of these conditions. This study explored the perceived value of genetic testing for patients who received negative or non-diagnostic results on CTD genetic testing to better understand the role of genetics in their care. We invited patients of the UPMC Primary Care Precision Medicine clinic in Pittsburgh to complete an online survey. The results of this study show that hEDS and HSD patients find value in genetic testing despite receiving negative results, and there is a significant improvement in their medical journeys after testing. This helps to define the utility of genetic testing for this patient population and establish support for genetic counseling and testing referrals. This research has public health significance because it addresses the lack of quality and equitable care for hEDS and HSD patients and aims to learn how genetic counselors and other genetics providers can improve healthcare experiences and outcomes for this patient population.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Slizewska, Gabrielagas78@pitt.edugas78
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairBerman, Natasha
Committee MemberMunro, Christine
Committee MemberMassart, Mylynda
Committee MemberShaffer, John R.john.r.shaffer@pitt.edujohn.r.shaffer
Date: 16 May 2024
Date Type: Publication
Defense Date: 4 April 2024
Approval Date: 16 May 2024
Submission Date: 20 April 2024
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 62
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: hypermobile ehlers-danlos syndrome, hEDS, hypermobile EDS, hypermobility spectrum disorder, HSD, hypermobility, connective tissue disorders
Date Deposited: 16 May 2024 20:09
Last Modified: 16 May 2024 20:09


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