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Genetic counselors' views and opinions regarding the possible implementation of prenatal exome sequencing

Zion, Tricia (2016) Genetic counselors' views and opinions regarding the possible implementation of prenatal exome sequencing. Master's Thesis, University of Pittsburgh. (Unpublished)

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The utility and effectiveness of whole exome sequencing (WES) have been demonstrated in a pediatric setting, and for this reason, it has recently begun being offered in in the prenatal setting. The scope of exome sequencing and the possibility for incidental findings raises ethical concerns and challenges current resources available to prenatal genetic counselors to implement this testing. This creates a need to understand genetic counselors’ opinions toward such a test prior to its implementation. For this reason, a survey focusing on clinical scenarios and factors influencing genetic counselors’ opinions on prenatal WES was distributed to clinical prenatal counselors and laboratory counselors through the National Society of Genetic Counselors’ student research survey program. One hundred and sixty respondents met criteria for and completed the survey. Results of this survey were analyzed for descriptive statistics as well as comparison of responses using nonparametric analysis. Responses showed that 59.4% of respondents were comfortable with prenatal WES as a diagnostic tool after other diagnostic testing had come back negative or inconclusive. Support for use of prenatal exome sequencing increased significantly (p=0.0088) in the context of targeted prenatal exome (TES), with 74.4% of counselors supporting TES after other diagnostic testing was negative or inconclusive. The two largest factors influencing opinions and support of prenatal exome sequencing were the perceived ability of patients to handle the amount of information provided by the testing (n=125) and the clinical utility of exome sequencing in the prenatal setting (n=123). Most genetic counselors (70.7%) were more likely to support prenatal exome sequencing if educational resources were provided to aid in the implementation of the testing. Overall, 46.9% of genetic counselors would support this testing if it were restricted to cases with clear clinical indications, while an additional 31.9% would support prenatal TES only. The public health significance of this study is that, because prenatal WES/TES will likely be clinically available in the near future, understanding genetic counselors’ perceptions of testing and barriers to uptake will help to more seamlessly integrate this testing into the clinic to provide the most benefit and least harm to prenatal patients.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Zion, Triciatnz1@pitt.eduTNZ1
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee MemberRajkovic, Aleksandarrajkovic@upmc.eduALR110
Committee MemberShaffer, John Rjrs51@pitt.eduJRS51
Committee MemberWeltmer,
Date: 29 June 2016
Date Type: Publication
Defense Date: 29 March 2016
Approval Date: 29 June 2016
Submission Date: 27 March 2016
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 85
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: exome, WES, exome sequencing, genetic counseling, survey, TES, targeted exome, prenatal, prenatal exome
Date Deposited: 29 Jun 2016 19:10
Last Modified: 19 Dec 2016 14:43


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