Experiences with Whole Exome Sequencing: A Collective Case Study

Experiences with Whole Exome Sequencing: A Collective Case Study

Bibliographic Details
Main Author: Mouhlas, Danielle
Language:English
Published: Case Western Reserve University School of Graduate Studies / OhioLINK 2015
Subjects:
Genetics
whole exome sequencing
genetic counseling
patient experiences
Online Access:http://rave.ohiolink.edu/etdc/view?acc_num=case1429804360
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spelling ndltd-OhioLink-oai-etd.ohiolink.edu-case14298043602021-08-03T06:30:45Z Experiences with Whole Exome Sequencing: A Collective Case Study Mouhlas, Danielle Genetics whole exome sequencing genetic counseling patient experiences Whole exome sequencing (WES) is a complex genetic test involving sequencing of the protein-coding regions of the genome. Interpreting and reporting WES results involves complex counseling, medical and ethical issues. This study explored parental perspectives on the process of WES; assessed parental knowledge and understanding of their child’s WES results in comparison to the WES laboratory report and genetics evaluation; and analyzed the similarities and differences between the parents’ and clinicians’ perspectives regarding the WES process. This collective case study included interviews with four families, a corresponding chart review of WES documents, and interviews with genetics providers involved in the WES process. Major themes that emerged from the data included motivation to end the diagnostic odyssey, learning through genetic testing, counseling needs, returning results, and empowerment. This study demonstrated the importance and necessity of thorough and transparent genetic counseling and its ability to empower patients regardless of WES testing outcome. 2015-06-03 English text Case Western Reserve University School of Graduate Studies / OhioLINK http://rave.ohiolink.edu/etdc/view?acc_num=case1429804360 http://rave.ohiolink.edu/etdc/view?acc_num=case1429804360 unrestricted This thesis or dissertation is protected by copyright: all rights reserved. It may not be copied or redistributed beyond the terms of applicable copyright laws.
collection NDLTD
language English
sources NDLTD
topic Genetics
whole exome sequencing
genetic counseling
patient experiences
spellingShingle Genetics
whole exome sequencing
genetic counseling
patient experiences
Mouhlas, Danielle
Experiences with Whole Exome Sequencing: A Collective Case Study
author Mouhlas, Danielle
author_facet Mouhlas, Danielle
author_sort Mouhlas, Danielle
title Experiences with Whole Exome Sequencing: A Collective Case Study
title_short Experiences with Whole Exome Sequencing: A Collective Case Study
title_full Experiences with Whole Exome Sequencing: A Collective Case Study
title_fullStr Experiences with Whole Exome Sequencing: A Collective Case Study
title_full_unstemmed Experiences with Whole Exome Sequencing: A Collective Case Study
title_sort experiences with whole exome sequencing: a collective case study
publisher Case Western Reserve University School of Graduate Studies / OhioLINK
publishDate 2015
url http://rave.ohiolink.edu/etdc/view?acc_num=case1429804360
work_keys_str_mv AT mouhlasdanielle experienceswithwholeexomesequencingacollectivecasestudy
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