Reproduction in the age of genomic medicine: the emergence, commercialisation and implications of preconception expanded carrier screening

基因组医学时代的生殖：孕前扩大携带者筛查的出现、商业化和影响

• 批准号: ES/W012456/1
• 负责人: Cathy Herbrand
• 金额: $ 61.5万
• 依托单位: De Montfort University
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2023
• 资助国家: 英国
• 起止时间: 2023 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=ES%2FW012456%2F1
• 关键词: Reproduction; age; genomic; medicine; emergence

Ideas about genetic inheritance powerfully shape our shared understandings of family, health and risk and there is a growing popular belief that the causes of many diseases are rooted in genes and DNA. With online direct-to-consumer testing kits (such as 23andMe) becoming widely available, individuals are increasingly encouraged to use genetic information to answer questions about their health. In the context of reproduction, genome-wide sequencing techniques are being used to provide a new form of testing - expanded carrier screening (ECS) - for couples who seek to have children. This test can inform couples about their potential risk of transmitting inherited genetic disorders to future offspring before trying to conceive. This so-called 'genetic compatibility' test requires only a blood or saliva sample to determine if future parents carry the same copy of any faulty genetic mutation and are therefore at risk of transmitting it to their children. While carrier screening was previously only used among families and communities who were at increased risk of certain genetic conditions such as Tay Sachs, expanded screening can test for many inherited conditions simultaneously and is available to any 'healthy couple' who have the means to afford it. ECS allows screening for hundreds of disease-causing genetic mutations, many of which are not necessarily incurable or life-threatening and whose prognosis may be uncertain, such as inherited deafness or cancers which only occur late in life. The allure of an 'optimal' pregnancy or 'disease free child' makes ECS a persuasive innovation with potentially considerable impact both socially and commercially. In the UK, ECS is currently being offered 'direct to consumer' by a range of commercial companies and fertility clinics at a cost of up to £1600. However, while demand for ECS is gathering pace, little is known about its implementation and the social, economic, ethical and policy questions it raises. Evidence is urgently required about how ECS interfaces with existing preconception services and screening, how it is marketed, how or if it should be regulated, the experiences of couples who might use it, and its implications for individuals and society. Developed using expertise in medical sociology, science and technology studies, empirical bioethics and political economy, this collaborative and interdisciplinary project aims to investigate the emergence of ECS for preconception use amongst the general population, and its wider implications. Co-designed with stakeholders, end users and a prominent UK charity partner (Progress Educational Trust), the study will explore several key questions: what are the social and economic processes at play in the emergence of ECS as a new commercial reproductive product; why do prospective parents choose to buy this test and what is the impact of preconception ECS on their expectations, reproductive decisions and experiences; how is the diffusion of ECS reshaping how we think about severe diseases, healthy/disabled children, reproductive risks and 'being a responsible parent'; what are the consequences of ECS being currently sold as a commercial product in terms of access and equity in reproductive healthcare; how will the roll out of ECS transform existing screening programmes and what are its implications for policy, regulation and practice? The study will use a range of methodologies to address these questions including: scoping of literature and policy documents and stakeholder interviews; systematically mapping the provision, commercialisation and marketing of ECS in the UK; qualitative interviews with couples with no family history of genetic conditions who have used or intend to use ECS; and interviews with ECS providers. A range of impact activities will focus on providing evidence for policymakers and professionals and on raising public awareness and debate.

关于遗传继承的想法有力地塑造了我们对家庭，健康和风险的共同理解，并且人们越来越普遍认为，许多疾病的原因植根于基因和DNA。随着在线直接到消费者测试套件（例如23andMe）广泛可用，越来越多地鼓励个人使用遗传信息来回答有关其健康的问题。在繁殖的背景下，全基因组测序技术用于提供一种新的测试形式 - 扩展的载体筛选（EC），适用于寻求生育孩子的夫妇。该测试可以在夫妻中告知夫妻在试图受孕之前向未来后代传播遗传疾病的潜在风险。这种所谓的“遗传兼容性”测试只需要血液或唾液样本，以确定未来的父母是否携带任何有缺陷的遗传突变的副本，因此有可能将其传输给孩子的风险。虽然以前仅在家庭和社区中使用携带者筛查，这些家庭和社区面临着某些遗传状况（例如Tay Sachs）的风险，但扩大的筛查可以简单地测试许多继承状况，并且有能力负担得起的任何“健康夫妇”。 ECS允许筛选数百个引起疾病的基因突变，其中许多不一定是无法治愈或威胁生命的，并且预后可能是不确定的，例如遗传的死亡或仅在生命后期发生的癌症。 “最佳”怀孕或“无疾病儿童”的魅力使EC成为有说服力的创新，在社会和商业上都有可能产生巨大影响。在英国，一系列商业公司和生育诊所目前正在向ECS提供“直接向消费​​者”，费用高达1600英镑。但是，尽管对EC的需求正在收集空间，但对其实施以及其提出的社会，经济，道德和政策问题知之甚少。迫切需要证据表明EC如何与现有的先入后服务和筛查，如何进行销售，应如何受到调节，可能使用它的夫妇的经验以及对个人和社会的影响。这项合作和跨学科的项目利用医学社会学，科学和技术研究，经验生物伦理学和政治经济学的专业知识开发，旨在调查ECS在普通人群中及其更广泛含义的ECS出现。该研究与利益相关者，最终用户和著名的英国慈善合作伙伴（进度教育基金会）共同设计，将探讨几个关键问题：ECS作为新的商业生殖产品的出现时，社会和经济过程在发挥了哪些作用；准父母为什么选择购买此测试，以及先入为主的EC对他们的期望，生殖决策和经验的影响？ EC的扩散如何重塑我们如何看待严重疾病，健康/残疾儿童，生殖风险和“成为负责任的父母”？在生殖医疗保健的获取和股权方面，当前作为商业产品出售EC的后果是什么？ ECS的推出将如何改变现有的筛查计划，以及它对政策，法规和实践的影响？该研究将使用一系列方法来解决这些问题，包括：文学和政策文件的范围以及利益相关者访谈；系统地绘制EC在英国的规定，商业化和营销；与没有使用或打算使用ECS的遗传状况家族史的夫妇进行定性访谈；以及与ECS提供商的访谈。一系列影响活动将着重于为决策者和专业人士提供证据，并提高公众的意识和辩论。