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Knowledge and attitudes about newborn screening for Fabry disease

Kolla, Kavitha (2017) Knowledge and attitudes about newborn screening for Fabry disease. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

Newborn screening is a public health program that identifies newborns who are at risk of having a life-threatening condition that will affect their health in infancy or childhood. Fabry disease is an X-linked lysosomal storage disorder with a variable age of onset from childhood through adulthood that was recently added to a few states’ newborn screening panels. Research on patient attitudes towards newborn screening for Fabry disease has been limited and this qualitative study aimed to gain a more complete understanding of the reasoning of adults with Fabry disease regarding the appropriateness of newborn screening for Fabry disease, their knowledge of newborn screening, and their experiences with Fabry disease. Participants were recruited from Children’s Hospital of Pittsburgh of UPMC’s Lysosomal Storage Disorders Clinic and six adults who have Fabry disease were interviewed. These interviews were transcribed and thematic analysis revealed six themes: influences of clinical spectrum and severity of Fabry disease, support systems, family dynamics, impact of timing of diagnosis and treatment availability on attitudes towards newborn screening, knowledge and attitudes towards newborn screening for Fabry disease, and impact of earlier diagnosis. Based on their personal experiences with Fabry disease, all participants were in favor of newborn screening for Fabry disease. Participants’ experiences with Fabry disease also reflected aspects of their family dynamics. The results of this qualitative study can inform genetic counseling practice for Fabry disease and future studies on NBS for Fabry disease. The opinions of stakeholders, including patients affected by the condition, are of public health significance and the results of this study can inform public health decisions as state legislators and state newborn screening programs consider whether to include Fabry disease on their state’s newborn screening panel.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Kolla, Kavithakak287@pitt.edukak287
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorWalsh Vockley, Catherinecatherine.walshvockley@chp.edu
Committee MemberGrubs, Robinrgrubs@pitt.edu
Committee MemberKammerer, Candacecmk3@pitt.edu
Long, Katiekatie.long@genzyme.com
Date: 30 August 2017
Date Type: Publication
Defense Date: 9 June 2017
Approval Date: 30 August 2017
Submission Date: 3 June 2017
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 120
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: newborn screening, Fabry disease, genetic counseling
Date Deposited: 30 Aug 2017 21:41
Last Modified: 30 Aug 2017 21:41
URI: http://d-scholarship.pitt.edu/id/eprint/32348

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