Last Friday, the 24th February, saw the first advisory group meeting of the Centre for Reproduction Research’s (CRR) latest collaborative and interdisciplinary research project, which launched earlier this month: ‘Reproduction in the age of genomic medicine: the emergence, commercialisation and implications of preconception expanded carrier screening’. This 3-year study, funded by the Economic and Social Research Council (ESRC) and led by Dr Cathy Herbrand aims to investigate the emergence of expanded carrier screening (ECS) for preconception use amongst the general population and its implications.
‘Preconception expanded carrier screening (ECS)’ is a form of genome-wide screening used to find out if individuals are carriers of a genetic mutation that might be passed on to their children and cause genetic disorders. They differ from targeted carrier screening, which is usually used amongst families and communities who are at increased chance of certain genetic conditions (for example those at risk of passing on Tay-Sachs). Following technological innovation, ECS is now available to anyone who has the means to afford it and can test for multiple conditions, potentially several hundred simultaneously.
The desire to have a child free of genetic disease makes ECS a persuasive innovation with potentially considerable impact. However, while demand for ECS is gathering pace, little is known about its implementation and the social, economic, ethical and policy questions it raises. Through a range of methods including: literature and policy scoping; 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, this study aims to contribute to public awareness and debate around ECS. It will also provide evidence for policymakers and professionals 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.
The advisory group brought together the nine team members, experts in the fields of medical sociology, bioethics, and genetic medicine as well as representatives of policy and professional bodies and patient associations, to prepare data collection and impact activities. It also provided the opportunity to start discussing a number of key sensitive issues surrounding this new screening technology.
During this first meeting, the group discussed a number of important contextual matters for the team to address, including: how a severe condition is defined, the extent to which options and issues differ at the preconception and prenatal levels, and the options available for couples in the event of a positive result. There was lots of food for thought and we very much look forward to starting interviewing medical professionals, policy makers, patient support groups and users of this technology in the coming months.
For more information about this project, please contact Cathy Herbrand on cathy.herbrand@dmu.ac.uk
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