Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.
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University of Cincinnati / OhioLINK
2016
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| Online Access: | http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771 |
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ndltd-OhioLink-oai-etd.ohiolink.edu-ucin14588147712021-08-03T06:35:05Z Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. Tolusso, Leandra K. Genetics Whole exome sequencing Informed consent Exome Secondary findings Incidental findings Whole exome sequencing (WES), a genetic test that sequences the protein-coding DNA, is an integral tool in the diagnosis of suspected genetic conditions in pediatric patients. Healthcare providers and families have expressed concerns about the informed consent process for WES due to the complexity of the information and the possibility for secondary findings. There has been little research into parental understanding about WES. We developed a survey to assess perceived (subjective) and actual (objective) understanding of WES in parents/guardians who consented to WES for their child between July 2013 and May 2015. The survey questions were divided into eight overall domains of informed consent and seventeen subdomains, which each addressed one specific aspect of WES. We surveyed 99 parents/guardians and received 55 completed surveys (56.7% response rate). We performed paired t-tests to compare overall mean subjective and objective understanding scores, and scores by domain and subdomain, to identify areas where perceptions of understanding did not match actual understanding. There was no significant difference in overall mean subjective (83.1/100) and objective understanding (82.5/100). However, subjective and objective understanding differed significantly in four domains (scope, description, voluntary nature, and benefits) and seven subdomains (purpose, analysis, reporting of results, benefits of WES, reinterpretation, and implications of secondary findings). As a secondary aim, we compared mean subjective and objective understanding scores between parents/guardians who consented to WES in a genetics clinic (n=41) versus a non-genetics specialty clinic (n=12). There were no significant differences in overall subjective or objective understanding or by domain in participants from the different clinics. However, a genetic counselor was involved in 9 (75%) of the pre-test counseling sessions in the speciality clinics. Our findings suggest that parents/guardians understood the majority of the information about WES that we assessed and that their perceptions of their understanding corresponded to their actual understanding. Concepts participants understood less well that may warrant further attention were the possibility of insurance discrimination based on results and the methods of WES analysis. Since a genetic counselor was involved in the majority of pre-test counseling sessions in genetics and speciality clinics, additional research into the impact on understanding of WES without involvement of genetics professionals is also warranted. 2016-06-28 English text University of Cincinnati / OhioLINK http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771 http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771 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 Informed consent Exome Secondary findings Incidental findings |
| spellingShingle |
Genetics Whole exome sequencing Informed consent Exome Secondary findings Incidental findings Tolusso, Leandra K. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. |
| author |
Tolusso, Leandra K. |
| author_facet |
Tolusso, Leandra K. |
| author_sort |
Tolusso, Leandra K. |
| title |
Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. |
| title_short |
Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. |
| title_full |
Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. |
| title_fullStr |
Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. |
| title_full_unstemmed |
Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. |
| title_sort |
parental understanding of whole exome sequencing: a comparison of perceived and actual understanding. |
| publisher |
University of Cincinnati / OhioLINK |
| publishDate |
2016 |
| url |
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771 |
| work_keys_str_mv |
AT tolussoleandrak parentalunderstandingofwholeexomesequencingacomparisonofperceivedandactualunderstanding |
| _version_ |
1719439782264700928 |