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

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.