Genetic Counselors’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings

Abstract

Newborn 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.