Selecting Futures: The Social and Ethical Implications of Genetic Screening

Developments in genetic medicine over the past 50 years have had a great impact on the number, and nature, of decisions to be made by prospective parents. In coming years, these decisions appear set to increase as the UK government considers the introduction of pre-conception and prenatal genetic screening. Pre-conception and prenatal genetic screening involves the genetic testing of couples or pregnant women to see if they are 'carriers' of a genetic disease (i.e. they do not have the condition themselves, but can pass it on). Previously, this testing was reserved only for people with a known history of genetic disease in their family, which means that they would usually be familiar with the effects of the condition. The introduction of genetic screening would mean that everyone could have tests done to see if they are carriers of genetic conditions, either before conception or after a pregnancy is established. The general public would therefore need to make decisions about being screened for conditions that they may never have experienced or heard of.
Families living with genetic conditions can offer unique insights into what it's like to live with the conditions that can be screened for; their attitudes to screening, and the way in which they make decisions about using such tests can tell us about how valuable 'experiential knowledge' is in reproductive decision making, and consequently highlight and anticipate some of potential issues that extending genetic screening programmes to those without such knowledge might bring.
This research programme aims to understand the role and value of experiential knowledge in reproductive decision making by focusing on families living with Spinal Muscular Atrophy. Spinal Muscular Atrophy is a condition that could be tested for if genetic screening were introduced. It is a neuromuscular condition causing varying degrees of muscle weakness. One in 40 people in the population are estimated to be carriers of Spinal Muscular Atrophy and there is no known cure or effective treatment, so if a pregnancy is found to be affected, termination is offered.
This research explores the possible implications of the introduction of genetic screening, using Spinal Muscular Atrophy as an example. The key research question is whether direct experience of Spinal Muscular Atrophy is important to people when making decisions around testing and screening, and, if so, how? Is experience only useful if it is experience of Spinal Muscular Atrophy? Or, can experience be used in reproductive decision making if it is of a condition that is similar to, but not the same as, Spinal Muscular Atrophy? The research will also explore how families currently living with Spinal Muscular Atrophy feel about, and view genetic screening as well as screening for other conditions, such as Down's Syndrome.
The findings of the research will be used to understand the implications of genetic screening, both for families living with Spinal Muscular Atrophy, as well as other conditions. In particular, it will facilitate an understanding of the social and ethical issues associated with screening for conditions that have variable presentations and for which prognosis (long term outlook) is uncertain.
The issues raised by the research programme will be of concern and relevance to policy makers considering the implications of the introduction of genetic screening, as well as the general public for whom these issues will, in the future, translate into everyday reproductive decisions and dilemmas. Advocacy and support groups representing families living with genetic conditions will also benefit from engaging with the issues presented by the research, particularly in the development of their 'position statements' on the introduction of screening. Lastly, this research will also be of great benefit to the academic community, contributing to the fields of social science and policy research, disabilitiy studies, bioethics and medicine.

My research will offer impact for a broad range of stakeholders and interested parties including: policymakers, academics, the voluntary sector, general public, health and social care professionals and the commercial sector.
Genetic advocacy Groups, Support Groups and Patient Organisations: Genetic advocacy and support groups are key stakeholders, and will benefit from the creation of a dialogue and debate around genetic screening, through the use of workshops and presentations. It is anticipated that these workshops and presentations will facilitate the creation of 'position statements' by individual patients organisations and support groups as they consider their own responses to genetic screening. The Jennifer Trust will benefit through gaining insight into the information and support needs of its members.Time scale for impact: Years 2-3.
Policy Makers: The Human Genetics Commission and the UK National Screening Committee are key stakeholders in the development of genetic screening policies. The findings of the research will be presented through a written report to be submitted during any consultations on genetic screening, and I will also aim to become involved with their work as a member of their consultative panels. Policy makers will benefit through gaining direct insight into the views and perspectives of families living with a condition that will be screened for which are vital to policy considerations. Time scale for impact: Year 3.
Health and Social Care Professionals: Health and social care professionals will benefit through gaining insight into the experiences of families living with genetic disease, as well as their responses to genetic screening and testing. Knowledge transfer will be attained through the development of training materials (in conjunction with the Jennifer Trust), as well as presentation at professional conferences (British Society for Human Genetics, Royal College of Midwives, Treat-NMD, European Annual Meeting on the Psychosocial Aspects of Genetics and the Newborn Screening and Genetic Testing Symposium). Time scale for impact: Years 1-3.
Academics: Academics in the fields of social science, disability studies, bioethics, medicine and health sciences will benefit from this research. The research will contribute theoretically to debates around the constructs of health, illness, impairment and disability, as well as epistemological debates around the value of experiential knowledge. However, the research will also have substantive, applied and methodological impact in the fields of mixed methods research, medicine, social science and bioethics. Impact will be realised through the production of journal articles, conference presentations, networking activities, an interactive research blog and workshop/seminars.Time scale for impact: Years 1-3.
General Public: The social implications of both genetic testing and screening are of significant interest to the general public. In order to stimulate debate, I will present my research on BBC Radio 4 and work with a science writer/journalist based at the University of Warwick to produce background press releases on my research for outlets such as the Guardian and Le Monde Diplomatique. Through a collaboration with Sante Theatre, ethnodrama (a play developed from the themes and issues in the research data) will be performed with post performance panel discussions.Time scale for impact: Years 1-3.
Commerical/Business Sector: The increasing availability of over-the-counter genetic testing raises questions about information standards within the commercial world of genetic testing. The way in which conditions such as Spinal Muscular Atrophy are presented to potential customers pursuing genetic information is a key concern for commercial genetic testing companies. I will therefore engage with such companies to discuss taking on an advisory role regarding the provision of this information in relation to screening tests. Time scale for impact: Year 3.