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.

关于遗传遗传的想法我们对许多疾病家庭的共同理解植根于基因和DNA。基因组 - 范围内正在寻求这种测试，这可能是对传播的潜在风险。未来的父母携带相同的芳族突变副本，并且有可能将其传输给孩子的风险。任何有能力负担得起的遗传突变的人，其中许多都是无法治愈的或生命线程的，其程序病可能是不确定的，例如遗传的耳聋或癌症“使社会和商业上有可能产生相当大的影响。它的实施以及社会，经济，道德和政策的疑问，我迫切需要如何对现有的服务和筛查，如何或是否受到LD的监管，可能在医学社会学中使用它的夫妇的经验，经验的生物伦理学和政治经济学旨在调查EC在普通人群，最终用户和著名的英国慈善合作伙伴（进度教育信任）中使用的eC。在EC作为新的商业生殖产品中的出现是对托管决定和实验的影响；在生殖保健方面的产品和公平性；关注政策制定者和专业人士，并提出公开和辩论。