NIPT - Emerging Issues: Genetic Counselors' Experiences & Perspectives with Incidental Findings

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dc.contributor.advisor Tsipis, Judith Orta, Alicia 2016-05-09T19:11:22Z 2016-05-09T19:11:22Z 2016
dc.description.abstract Since companies began marketing the analysis of cell-free DNA in the maternal plasma as non-invasive prenatal testing (NIPT) to screen for fetal aneuploidy and other conditions, healthcare providers and patients alike have encountered discordant invasive and non-invasive testing results, with unexpected incidental findings as a rare cause. The purpose of this study was to investigate prenatal genetic counselors’ practices and perspectives regarding counseling patients for the possibility of incidental findings identified through NIPT. We emailed a 58-question anonymous survey to the NSGC membership to recruit clinical prenatal genetic counselors that offer NIPT. Of the 147 survey respondents, 74% obtain informed consent for NIPT verbally and over half (54%) do not involve the patient in the documentation of informed consent, as the provider is responsible for documenting the patient’s consent. More than half (57%) do not always include the possibility of incidental findings in their pre-test counseling discussions. Yet, 47% of the genetic counselor respondents have had a suspected or confirmed incidental finding identified through NIPT. Almost all respondents indicated that post-test counseling a patient with an incidental finding is challenging, citing a lack of information and variation among NIPT laboratories with how they communicate incidental findings and a lack of clinical guidelines from professional societies as the most important factors. From counselors’ responses, unknown maternal conditions account for a large proportion of the incidental findings identified by NIPT. Given these findings we recommend that pre-test counseling for NIPT include a discussion of possible unexpected findings and to establish clear expectations for the categories of results that may be returned, the creation of professional guidelines outlining how incidental findings should be discussed in both pre- and post-test counseling discussions, and the creation of a centralized database for the collection of findings, outcomes, and clinical follow-up to facilitate appropriate care for patients.
dc.description.sponsorship Brandeis University, Graduate School of Arts and Sciences, NSGC Prenatal Special Interest Group Grant Award
dc.format.mimetype application/pdf
dc.language English
dc.language.iso eng
dc.publisher Brandeis University
dc.relation.ispartofseries Brandeis University Theses and Dissertations
dc.rights Copyright by Alicia S. Orta 2016
dc.subject non-invasive prenatal screening
dc.subject cell-free DNA screening
dc.subject genetic counseling
dc.subject pre-test counseling
dc.subject post-test counseling
dc.subject prenatal testing
dc.subject informed consent
dc.subject incidental finding
dc.title NIPT - Emerging Issues: Genetic Counselors' Experiences & Perspectives with Incidental Findings
dc.type Thesis
dc.contributor.department Graduate Program in Genetic Counseling MS Masters Genetic Counseling Brandeis University, Graduate School of Arts and Sciences

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