Title: Patient and professional understandings of risk: how complexity and uncertainty of genetic knowledge impacts on reproductive decision making
Funder: Economic and Social Research Council

Abstract: This fellowship will take place within the context of dynamic and exciting developments in reproductive technologies. The emergence of novel IVF techniques involving mitochondria donation could give women with mitochondrial disease the opportunity to have healthy children. The possibility that a future generation can be born without mitochondrial disease has been widely embraced by patients and professionals. However, accounts of mitochondrial donation, particularly within media coverage assume a level of technological determinism, that if these techniques are available then this will 'halt', 'eliminate' or 'eradicate' mitochondrial disease from families. It is at this juncture that the proposed research will contribute to the debate by examining how patients with mitochondrial disease make reproductive choices, whether and how they negotiate IVF technologies and will identify the contexts that shape or direct their decisions. Mitochondria are small energy producing structures contained in the cytoplasm of a cell. They are inherited through the female line, meaning that the children of women with disease caused by mutations in mitochondrial DNA will inherit these mutations. Scientists at the Wellcome Trust Centre for Mitochondrial Research in Newcastle have developed pioneering techniques which involve removing the nucleus of an egg with faulty mitochondria (from a woman with mitochondrial disease) and transferring it into an e-nucleated egg (from a donor) containing healthy mitochondria. As the mitochondrial DNA from the donor egg could then be inherited by future generations, these pioneering 'germ line' techniques have challenged existing legal and ethical frameworks and a change in law is required for them to be offered to patients. These techniques have attracted intense media interest, with '3 parent babies' dominating the headlines and have raised concern about the possible 'slippery slope' to designer babies and human modification. Ultimately, the future use of these techniques depends on patients and families assessing complex risk information about themselves and their genetic inheritance. Through interviews with patients, partners and health professionals, I will examine the implications of these contemporary advances and in doing so I will contribute vital knowledge with practical application. Alongside the research project I have secured an intensive programme of training and development including: a. Leadership and management courses and the supervising of a research assistant b. Two internships to develop key skills for impact. One will be within a policy focused organisation supporting rare and genetic disease patient groups and the other is an academic research centre research with expertise in patient education c. Widespread dissemination of research and ongoing discussion with lay, professional and academic audiences including scientists, clinicians, social scientists and patients d. Working with the editorial team at the Sociology of Health and Illness, a highly ranked journal within sociology, providing a fantastic opportunity to learn about the editorial process, the referee system and academic standards e. Collaborating in the development of resources for education and public engagement based on my own research The strength of this fellowship is that it consolidates my knowledge of rare and genetic disease through a rigorous programme of research, dissemination, engagement and professional development. My medium and long term objectives are: a.Conduct world class research exploring patient and professional accounts of mitochondrial technologies b.Publication of high quality articles in international journals c.To be a leading scholar within medical sociology with specialist expertise in the social and ethical implications of genetic technologies d.To be in a position to attract large grants and have the skills and capacity to develop the careers of future researchers


Research activity codes: 7.1 INDIVIDUAL CARE NEEDS;7.3 MANAGEMENT AND DECISION MAKING
Health categories: REPRODUCTIVE HEALTH AND CHILDBIRTH