Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Monash Bioethics Centre, Monash University, Clayton, VIC, Australia.
Eur J Hum Genet. 2023 May;31(5):562-567. doi: 10.1038/s41431-022-01256-x. Epub 2022 Dec 12.
Non-invasive prenatal testing (NIPT) has been available commercially in Europe since approximately 2012. Currently, many countries are in the process of integrating NIPT into their publicly funded healthcare systems to screen for chromosomal aneuploidies such as trisomy 21 (Down syndrome), with a variety of implementation models. In 2019, the German Federal Joint Committee (G-BA), which plays a significant role in overseeing healthcare decisions in Germany, recommended that NIPT be reimbursed through public insurance. Following this recommendation, NIPT will be offered on a case-by-case basis, when a pregnant woman, after being counselled, makes an informed decision that the test is necessary in her personal situation. This model differs significantly from many other European countries, where NIPT is being implemented either as a first-tier screening offer available for all pregnancies, or a contingent screen for those with a high probability of foetal aneuploidy (with varying probability cut-offs). In this paper we examine how this unique approach to implementing NIPT in Germany is produced by an ethical and policy landscape resulting from a distinctive cultural and historical context with a significant influence on healthcare decision-making. Due in part to the specific legal and regulatory environment, as well as strong objections from various stakeholders, Germany did not implement NIPT as a first-tier screen. However, as Germany does not currently publicly fund as standard other forms of prenatal aneuploidy screening (such as combined first trimester screening), neither can it be implemented as a screen contingent on specific probability cut-offs. We discuss how German policy reflects the echoes of the past shaping approaches to new biotechnologies, and the implications of this unique model for implementing NIPT in a public healthcare system.
非侵入性产前检测(NIPT)自 2012 年左右在欧洲开始商业化。目前,许多国家正在将 NIPT 纳入其公共资助的医疗保健系统中,以筛查染色体非整倍体,如 21 三体(唐氏综合征),采用多种实施模式。2019 年,在监督德国医疗保健决策方面发挥重要作用的德国联邦联合委员会(G-BA)建议通过公共保险报销 NIPT。在这一建议之后,NIPT 将根据个案情况提供,当孕妇在咨询后做出知情决定,认为该测试在她的个人情况下是必要的。这种模式与许多其他欧洲国家有很大的不同,在这些国家,NIPT 要么作为所有妊娠的一级筛查提供,要么作为对胎儿非整倍体高概率(具有不同概率截止值)的 contingent 筛查。在本文中,我们研究了德国实施 NIPT 的独特方法是如何由道德和政策背景产生的,这种背景源于对医疗保健决策具有重大影响的独特文化和历史背景。部分由于特定的法律和监管环境以及来自各方利益相关者的强烈反对,德国没有将 NIPT 作为一级筛查实施。然而,由于德国目前没有将其他形式的产前非整倍体筛查(如联合早孕期筛查)作为标准进行公共资助,因此也不能将其作为特定概率截止值的 contingent 筛查实施。我们讨论了德国政策如何反映过去塑造新技术方法的回声,以及这种独特模式对在公共医疗保健系统中实施 NIPT 的影响。