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dc.contributor.authorLeppert, K.*
dc.contributor.authorBisordi, K.*
dc.contributor.authorNieto, J.*
dc.date.accessioned2019-05-17T13:21:17Z
dc.date.available2019-05-17T13:21:17Z
dc.date.issued2018
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85045849356&doi=10.1007%2fs10897-018-0258-0&partnerID=40&md5=7a19490ac3ccb7ea065b2bd058b6ad55
dc.identifier.urihttp://hdl.handle.net/10713/9201
dc.description.abstractNewborn screening (NBS) is a public health program whose aim is to identify infants who will be clinically affected with a serious metabolic, genetic, or endocrine disorder; however, the technology utilized by many NBS programs also detects infants who are heterozygous carriers for autosomal recessive conditions. Discussion surrounding disclosure of these incidental carrier findings remains controversial. The purpose of this study was to assess genetic counselors’ attitudes about disclosure of carrier status results generated by NBS and to gather data on their experiences with incidental carrier findings. An electronic survey was distributed to genetic counselors of all specialties via the NSGC listserv, and a total of 235 survey responses were analyzed. Quantitative data were analyzed using IBM SPSS v24, and qualitative data were manually analyzed for thematic analysis. Results show that the counselor participants were overall in favor of routine disclosure. Those with experience in NBS were much more likely to strongly agree with one or more reasons for disclosure (p < 0.001), whereas those with five or fewer years of experience were more likely to strongly agree with one or more reasons for non‐disclosure (p = 0.031). Qualitative analysis identified key motivating factors for disclosure, including helping parents to understand a positive screen, parents may otherwise be unaware of reproductive risk and they may not otherwise have access to this information, and, while genetic testing is inherently a complex and ambiguous process, this does not justify non‐disclosure. The main motivating factor for non‐disclosure was the need for better counseling and informed consent. The data suggest that implementation of an “opt‐in/out” policy for parents to decide whether or not to receive incidental findings would be beneficial. The results of this study support the continued disclosure of incidental carrier findings; however, additional research is necessary to further determine and implement the most effective disclosure practices. Copyright 2018, The Author(s).en_US
dc.description.urihttps://dx.doi.org/10.1007/s10897-018-0258-0en_US
dc.language.isoen_USen_US
dc.publisherWileyen_US
dc.relation.ispartofJournal of Genetic Counseling
dc.subjectCarrier statusen_US
dc.subjectGenetic counselorsen_US
dc.subjectHeterozygousen_US
dc.subjectIncidental findingsen_US
dc.subjectNewborn screeningen_US
dc.subjectPolicyen_US
dc.titleGenetic Counselors’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findingsen_US
dc.typeArticleen_US
dc.identifier.doi10.1007/s10897-018-0258-0
dc.identifier.pmid29687313


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