Genetic counselors' views and opinions regarding the possible implementation of prenatal exome sequencing
Year: 2016
Type: article
Study design: Observational Study
Abstract: 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.
Author: Tricia Zion
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2523591271