Bioethics Programs, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal, 7101, Parc Avenue, Montreal, Quebec, H3N 1X9, Canada.
Bioethics Programs, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal, 7101, Parc Avenue, Montreal, Quebec, H3N 1X9, Canada.
Soc Sci Med. 2022 Jul;304:112930. doi: 10.1016/j.socscimed.2020.112930. Epub 2020 Mar 17.
Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) offers numerous benefits to pregnant women and their families. It also raises ethical, legal and social concerns regarding, for instance, the possible effects of a routinization of prenatal genetic testing on free and informed decision-making by prospective parents, and the role of the state in governing its use. Technological advances are allowing cfDNA analyses to detect an increasing number of genetic risks and conditions in the fetus, potentially further exacerbating such concerns. From May 2015 to December 2016, we conducted a three-round Policy Delphi study (N = 61, N = 58, N = 47; overall retention rate = 77.0%) to explore the social acceptability (SA) of current and potential future uses of NIPT in Canada according to participants with relevant professional, research or advocacy expertise. Participants came from four groups: healthcare professionals (N = 14), social sciences and humanities researchers (N = 13), patients/disability rights advocates (N = 14), and cultural/religious communities advocates (N = 6). This paper presents SA criteria and contextual contingencies relevant to the assessment of NIPT's SA according to the group. It also reports what uses (conditions or motives) participants thought should be banned, permitted, publicly funded, or promoted as a public health strategy. According to them, conditions resulting in severe pain or early death, as well as trisomies (13, 18, 21) and sex chromosome abnormalities, should be covered by Canadian public health insurance. However, there was wide agreement that direct-to-consumer NIPT should be legally banned, and that testing for fetal sex for non-medical reasons using NIPT should be either proscribed or discouraged. In addition to identifying areas of consensus, our results point to disagreement regarding, for instance, the required level of governance of whole-genome sequencing and testing for late onset conditions with low penetrance. This study also provides a model for exploring the SA of emerging technologies using the Policy Delphi method.
使用游离胎儿 DNA (cfDNA) 的非侵入性产前检测 (NIPT) 为孕妇及其家庭带来了诸多益处。它也引发了伦理、法律和社会方面的关注，例如，对常规产前基因检测对准父母自由和知情决策的可能影响，以及国家在管理其使用方面的作用。技术进步使得 cfDNA 分析能够检测出胎儿中越来越多的遗传风险和疾病，这可能会进一步加剧这些担忧。从 2015 年 5 月到 2016 年 12 月，我们进行了三轮政策 Delphi 研究（N=61，N=58，N=47；总体保留率=77.0%），以根据具有相关专业、研究或宣传专业知识的参与者，探讨 NIPT 在加拿大的当前和潜在未来用途的社会可接受性 (SA)。参与者来自四个群体：医疗保健专业人员（N=14）、社会科学和人文学科研究人员（N=13）、患者/残疾权利倡导者（N=14）和文化/宗教社区倡导者（N=6）。本文根据小组介绍了与 NIPT 的 SA 评估相关的 SA 标准和上下文条件，并报告了参与者认为哪些用途（条件或动机）应被禁止、允许、公共资助或推广为公共卫生策略。根据他们的观点，导致严重疼痛或早逝的情况，以及三体（13、18、21）和性染色体异常，应纳入加拿大公共医疗保险范围。然而，人们普遍认为，直接面向消费者的 NIPT 应该在法律上被禁止，并且使用 NIPT 进行非医疗原因的胎儿性别检测应该被禁止或劝阻。除了确定共识领域外，我们的研究结果还表明，在需要治理全基因组测序和低外显率迟发性疾病检测等方面存在分歧。本研究还为使用政策 Delphi 方法探索新兴技术的 SA 提供了一个模型。
