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.

关于基因遗传的观点有力地塑造了我们对家庭、健康和风险的共同理解，越来越多的人普遍认为，许多疾病的原因都植根于基因和DNA。随着在线直接面向消费者的检测试剂盒(如23andMe)变得广泛可用，越来越多的人被鼓励使用基因信息来回答有关他们健康的问题。在生殖方面，全基因组测序技术正被用于为寻求生育孩子的夫妇提供一种新的检测形式--扩展携带者筛查(ECS)。这项测试可以在夫妇试图怀孕之前告知他们遗传遗传疾病传染给未来后代的潜在风险。这种所谓的“基因相容”测试只需要一份血液或唾液样本，就能确定未来的父母是否携带了任何缺陷基因突变的相同副本，因此有可能将其遗传给他们的孩子。虽然携带者筛查以前只适用于某些遗传病风险较高的家庭和社区，如泰氏综合症，但扩大筛查可以同时检测多种遗传性疾病，任何有能力负担得起的健康夫妇都可以使用。ECS可以筛查数百种致病基因突变，其中许多不一定是无法治愈或危及生命的，其预后可能不确定，例如遗传性耳聋或只发生在晚年的癌症。“最佳”怀孕或“无病儿童”的诱惑力使ECS成为一项有说服力的创新，在社会和商业上都可能产生相当大的影响。在英国，ECS目前由一系列商业公司和生育诊所直接向消费者提供，价格高达1600 GB。然而，尽管对ECS的需求正在加快，但人们对其实施及其引发的社会、经济、伦理和政策问题知之甚少。迫切需要证据说明ECS如何与现有的先入为主的服务和筛查相结合，如何营销它，如何或是否应该对其进行监管，可能使用它的夫妇的经历，以及它对个人和社会的影响。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方面的专业知识开发的这个合作和跨学科项目旨在调查ECS在普通人群中出现的先入为主的情况及其更广泛的影响。这项研究与利益相关者、最终用户和英国著名的慈善合作伙伴(Progress Education Trust)共同设计，将探索几个关键问题：ECS作为一种新的商业生殖产品的出现有哪些社会和经济过程；潜在父母为什么选择购买这项测试，以及先入为主的ECS对他们的期望、生殖决策和体验有什么影响；ECS的传播如何重塑我们对严重疾病、健康/残疾儿童、生殖风险和作为一名负责任的父母的看法；ECS目前作为一种商业产品在生殖保健方面作为一种商业产品出售的后果是什么；ECS的推出将如何改变现有的筛查方案，它对政策、法规和实践有何影响？这项研究将使用一系列方法来解决这些问题，包括：确定文献和政策文件的范围以及与利益相关者的访谈；系统地绘制英国ECS的供应、商业化和营销情况图；对已经使用或打算使用ECS的没有家族遗传史的夫妇进行定性访谈；以及与ECS提供者的访谈。一系列影响活动将侧重于为政策制定者和专业人员提供证据，并提高公众认识和辩论。