van Dijk Tessa, Kater Adriana, Jansen Marleen, Dondorp Wybo J, Blom Maartje, Kemp Stephan, Langeveld Mirjam, Cornel Martina C, van der Pal Sylvia M, Henneman Lidewij
Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
Department of Health, Ethics and Society, CAPHRI Care and Public Health Research Institute, and Research School GROW for Oncology & Developmental Biology, Maastricht University, Maastricht, Netherlands.
Front Pediatr. 2021 Oct 6;9:706394. doi: 10.3389/fped.2021.706394. eCollection 2021.
Neonatal bloodspot screening (NBS) aims to detect treatable disorders in newborns. The number of conditions included in the screening is expanding through technological and therapeutic developments, which can result in health gain for more newborns. NBS expansion, however, also poses healthcare, ethical and societal challenges. This qualitative study explores a multi-stakeholders' perspective on current and future expansions of NBS. Semi-structured interviews were conducted with 22 Dutch professionals, including healthcare professionals, test developers and policy makers, and 17 parents of children with normal and abnormal NBS results. Addressed themes were (1) benefits and challenges of current expansion, (2) expectations regarding future developments, and (3) NBS acceptance and consent procedures. Overall, participants had a positive attitude toward NBS expansion, as long as it is aimed at detecting treatable disorders and achieving health gain. Concerns were raised regarding an increase in results of uncertain significance, diagnosing asymptomatic mothers, screening of subgroups ("males only"), finding untreatable disorders, along with increasingly complex consent procedures. Regarding the scope of future NBS expansions, two types of stakeholder perspectives emerged. Stakeholders with a "targeted-scope" perspective saw health gain for the neonate as the exclusive NBS aim. They thought pre-test information could be limited, and parents should be protected against too much options or information. Stakeholders with a "broad-scope" perspective thought the NBS aim should be formulated broader, for example, also taking (reproductive) life planning into account. They put more emphasis on individual preferences and parental autonomy. Policy-makers should engage with both perspectives when making further decisions about NBS.
新生儿血斑筛查（NBS）旨在检测新生儿中可治疗的疾病。随着技术和治疗方法的发展，筛查所涵盖的疾病数量不断增加，这能为更多新生儿带来健康益处。然而，NBS的扩展也带来了医疗、伦理和社会方面的挑战。这项定性研究探讨了多利益相关方对NBS当前及未来扩展的看法。对22名荷兰专业人士进行了半结构化访谈，其中包括医疗保健专业人员、检测开发者和政策制定者，以及17名其子女NBS结果正常和异常的家长。讨论的主题包括：（1）当前扩展的益处和挑战；（2）对未来发展的期望；（3）NBS的接受和同意程序。总体而言，只要NBS的扩展旨在检测可治疗的疾病并实现健康改善，参与者对其持积极态度。人们对意义不确定的结果增加、对无症状母亲进行诊断、对亚组（“仅男性”）进行筛查、发现无法治疗的疾病以及同意程序日益复杂等问题表示担忧。关于未来NBS扩展的范围，出现了两种利益相关方观点。持“目标范围”观点的利益相关方将新生儿的健康改善视为NBS的唯一目标。他们认为检测前的信息可以有限，应保护家长避免面临过多选择或信息。持“广泛范围”观点 的利益相关方认为NBS的目标应制定得更宽泛，例如，还应考虑（生殖）生活规划。他们更强调个人偏好和家长自主权。政策制定者在就NBS做出进一步决策时应兼顾这两种观点。
