Date of Award

5-2024

Document Type

Thesis - Open Access

Degree Name

MS in Human Genetics

First Advisor

Laura Hercher

Second Advisor

Katie Stoll

Abstract

Our study investigated prenatal genetic counselors’ perspectives on and overall satisfaction with the current practice of informed consent for non-invasive prenatal testing (NIPT). With the routinization of NIPT, it is increasingly necessary for healthcare providers other than genetic counselors to facilitate pretest counseling. This in turn raises concerns that time constraints and non-genetics providers’ lack of knowledge about NIPT will leave patients unprepared to make an informed decision about prenatal testing. To explore the frequency of perceived patient misconceptions and their perceived sources and identify potential strategies to address current challenges in the informed consent process, we created an online survey targeting past or currently practicing prenatal genetic counselors consisting of multiple-choice, Likert-scale, and open-ended questions. The survey was distributed to genetic counselors through the National Society of Genetic Counselors listserv as well as directly through professional connections and LinkedIn. Responses were analyzed using descriptive statistics. For open-ended questions, common themes were extracted through inductive analysis. A total of 154 counselors responded and 109 met eligibility criteria. Results showed that OB/GYNs, midwives, and maternal-fetal medicine specialists were most commonly the healthcare providers facilitating informed consent for NIPT. The most frequently reported patient misconceptions were that NIPT screens for all genetic conditions and that NIPT is a diagnostic test, with 82% (n=88) and 78% (n=85) of respondents respectively stating that their patients “sometimes” or “often” hold these beliefs. A majority of respondents expressed feeling frequently dissatisfied with the pretest counseling that their patients had received from non-genetics providers, and they identified a lack of provider education, time constraints, low patient health literacy, and language barriers as potential sources of patient misconceptions. Our results suggest that genetic counselors believe the most common source of patient misunderstandings about NIPT is non-genetics providers’ lack of knowledge about the test. Our results imply that genetic counselors are not confident patients are making fully informed and autonomous decisions when consenting to NIPT. When asked how we might improve the informed consent process for NIPT, respondents were most likely to suggest efforts to standardize non-genetics provider education and to introduce accessible patient resources.

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