Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance

Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance

Bibliographic Details
Main Author: Tran, Grace
Language:English
Published: University of Cincinnati / OhioLINK 2014
Subjects:
Genetics
Whole exome sequencing
return of research results
next generation sequencing
variants of uncertain significance
Online Access:http://rave.ohiolink.edu/etdc/view?acc_num=ucin1397234121
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spelling ndltd-OhioLink-oai-etd.ohiolink.edu-ucin13972341212021-08-03T06:23:34Z Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance Tran, Grace Genetics Whole exome sequencing return of research results next generation sequencing variants of uncertain significance Introduction: Whole exome sequencing (WES) is becoming a common tool used in both research and clinical settings. Stakeholders’ attitudes regarding disclosure of research results are variable and a better understanding of participants’ preferences is needed. Contradictory evidence exists regarding adult participants’ comprehension and perceived impact of disclosed results of uncertain significance. There is also limited literature discussing how parents make sense of WES research results of uncertain significance. Purpose: To explore parents’ understanding of, reactions to, and ascribed meanings of WES research results of uncertain significance. Methods: The investigators conducted semi-structured interviews with 8 parents of 5 children who received results of uncertain significance. The investigators used an interpretive phenomenology approach to analyze the data. They developed codes using deductive and inductive logic and two coders coded all transcripts. Results: Parents fluctuated in their understanding of their child’s WES research results of uncertain significance. Parents expressed disappointment and lingering uncertainties with disclosed results. Parents still had positive views regarding the research results because they saw it as an opportunity to benefit other children/families. In general, parents were willing and wanting to share their child’s results with friends and family members. Parents had high hopes for continuing research on their child’s results. Conclusion: Genetic providers will need to evaluate the efficacy of current strategies in explaining results of uncertain significance and may need to develop educational tools. Alternatively, genetic professionals have to better address underlying reasons for parents’ fluctuating interpretations of research results. Further studies are needed to assess how receipt of research results of uncertain significance can impact parents’ psychosocial health. Future studies are needed to assess the potential impacts decreased funding of future research on participant recruitment. 2014-10-17 English text University of Cincinnati / OhioLINK http://rave.ohiolink.edu/etdc/view?acc_num=ucin1397234121 http://rave.ohiolink.edu/etdc/view?acc_num=ucin1397234121 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
return of research results
next generation sequencing
variants of uncertain significance
spellingShingle Genetics
Whole exome sequencing
return of research results
next generation sequencing
variants of uncertain significance
Tran, Grace
Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance
author Tran, Grace
author_facet Tran, Grace
author_sort Tran, Grace
title Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance
title_short Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance
title_full Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance
title_fullStr Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance
title_full_unstemmed Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance
title_sort parents’ perspectives: child’s whole exome sequencing (wes) research results of uncertain significance
publisher University of Cincinnati / OhioLINK
publishDate 2014
url http://rave.ohiolink.edu/etdc/view?acc_num=ucin1397234121
work_keys_str_mv AT trangrace parentsperspectiveschildswholeexomesequencingwesresearchresultsofuncertainsignificance
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