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Psychosocial impact of targeted exome sequencing on parents of chronically ill children

Wayburn, Bess (2016) Psychosocial impact of targeted exome sequencing on parents of chronically ill children. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

Whole exome sequencing (WES) is a relatively new testing option, currently offered primarily in the pediatric setting, that is open to more uncertainty than single gene or gene panel testing. This uncertainty makes pre-test counseling challenging yet critical to ensure informed consent. Adaptation of counseling strategies for this type of testing requires a better understanding of parents' experiences throughout the WES testing process. However, the experience of parents of chronically ill children who have actually gone through the entire WES testing process has not been widely reported in the literature. Currently, analysis of exome test results at Children’s Hospital of Pittsburgh does not include the incidental findings that are typically reported in WES results (i.e. variants in genes that are not associated with the child’s present condition) and is, therefore, referred to as “targeted exome sequencing” (TES). This study was designed to gain an understanding of the psychosocial impact on parents of the TES testing process for chronically ill children in order to improve test education, consent and results disclosure processes and to better help parents cope with the results. Semi-structured interviews were conducted with 11 parents of children who received targeted exome sequencing results and thematic analysis was performed on transcripts generated from the interviews. The experiences and opinions of parents whose children received positive, likely negative or uncertain results were analyzed, in order to develop a robust understanding of the full TES process. This study has Public Health significance because the results may contribute to the development of updated recommendations for optimizing informed consent and results disclosure for TES.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Wayburn, Bessbkw10@pitt.eduBKW10
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorWalsh Vockley, Catherinecatherine.walshvockley@chp.edu
Committee MemberGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee MemberVockley, Gerardgerard.vockley@chp.edu
Committee MemberKammerer, Candace Mcmk3@pitt.eduCMK3
Date: 29 June 2016
Date Type: Publication
Defense Date: 29 March 2016
Approval Date: 29 June 2016
Submission Date: 23 March 2016
Access Restriction: 1 year -- Restrict access to University of Pittsburgh for a period of 1 year.
Number of Pages: 99
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: whole exome sequencing; targeted exome sequencing
Date Deposited: 29 Jun 2016 19:02
Last Modified: 01 May 2017 05:15
URI: http://d-scholarship.pitt.edu/id/eprint/27311

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