Leppert Kristen, Bisordi Katharine, Nieto Jessica, Maloney Kristin, Guan Yue, Dixon Shannan, Egense Alena
University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Johns Hopkins University, Baltimore, MD, 21287, USA.
J Genet Couns. 2018 Dec;27(6):1328-1340. doi: 10.1007/s10897-018-0258-0. Epub 2018 Apr 23.
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.
新生儿筛查（NBS）是一项公共卫生项目，其目的是识别那些临床上会受到严重代谢、遗传或内分泌疾病影响的婴儿；然而，许多NBS项目所使用的技术也能检测出常染色体隐性疾病的杂合子携带者婴儿。围绕这些偶然发现的携带者结果的披露问题的讨论仍然存在争议。本研究的目的是评估遗传咨询师对于披露NBS产生的携带者状态结果的态度，并收集他们处理偶然发现的携带者结果的经验数据。通过国家遗传咨询师协会（NSGC）的邮件列表向所有专业的遗传咨询师发放了一份电子调查问卷，共分析了235份调查回复。定量数据使用IBM SPSS v24进行分析，定性数据进行人工分析以进行主题分析。结果显示，参与调查的咨询师总体上赞成常规披露。有NBS经验的人更有可能强烈认同一个或多个披露的理由（p < 0.001），而经验少于五年的人更有可能强烈认同一个或多个不披露的理由（p = 0.031）。定性分析确定了披露的关键推动因素，包括帮助父母理解阳性筛查结果、父母否则可能不知道生殖风险且可能无法获得此信息，以及虽然基因检测本质上是一个复杂且模糊的过程，但这不能成为不披露的理由。不披露的主要推动因素是需要更好的咨询和知情同意。数据表明，实施“选择加入/退出”政策让父母决定是否接受偶然发现的结果将是有益的。本研究结果支持继续披露偶然发现的携带者结果；然而，需要进一步研究以进一步确定并实施最有效的披露做法。
