Patient and professional understandings of risk: how complexity and uncertainty of genetic knowledge impacts on reproductive decision making

该奖学金将在生殖技术动态和令人兴奋的发展背景下进行。涉及线粒体捐赠的新型试管婴儿技术的出现可以为患有线粒体疾病的妇女提供生下健康孩子的机会。未来一代可以在没有线粒体疾病的情况下出生的可能性已经被患者和专业人士广泛接受。然而，关于线粒体捐赠的报道，特别是在媒体报道中，假定了一定程度的技术决定论，即如果这些技术可用，那么这将“停止”，“消除”或“根除”家庭中的线粒体疾病。正是在这个时刻，拟议的研究将通过研究线粒体疾病患者如何做出生殖选择，他们是否以及如何谈判试管婴儿技术，并将确定塑造或指导他们决定的背景来促进辩论。线粒体是细胞质中含有的小能量产生结构。它们是通过母系遗传的，这意味着患有线粒体DNA突变引起的疾病的妇女的孩子将继承这些突变。位于纽卡斯尔的威康信托基金会线粒体研究中心的科学家们开发出了一种开创性的技术，该技术涉及去除带有缺陷线粒体的卵子的细胞核（来自一名患有线粒体疾病的妇女）并将其转移到一个e核卵子中（来自捐赠者）含有健康的线粒体。由于来自捐赠者卵子的线粒体DNA可以被后代遗传，这些开创性的“生殖细胞系”技术挑战了现有的法律的和伦理框架，并且需要修改法律以将其提供给患者。这些技术吸引了媒体的强烈兴趣，“三亲婴儿”占据了头条新闻，并引起了对设计婴儿和人类改造可能“滑坡”的担忧。最终，这些技术的未来使用取决于患者和家庭评估关于他们自己及其遗传的复杂风险信息。通过与患者，合作伙伴和卫生专业人员的访谈，我将研究这些当代进步的影响，并在此过程中，我将贡献重要的知识与实际应用。除了研究项目，我还获得了一个密集的培训和发展计划，包括：a.领导和管理课程以及指导一名研究助理b。两次实习机会，以发展影响力的关键技能。一个将在一个以政策为重点的组织内，支持罕见和遗传疾病患者群体，另一个是一个学术研究中心，在患者教育方面具有专业知识。广泛传播研究成果，并与非专业、专业和学术受众（包括科学家、临床医生、社会科学家和患者）进行持续讨论。与编辑团队在健康和疾病的社会学，社会学内的一个高排名的期刊工作，提供了一个极好的机会，了解编辑过程，裁判制度和学术标准。根据我自己的研究，合作开发教育和公众参与的资源这个奖学金的优势在于，它通过严格的研究，传播，参与和专业发展计划巩固了我对罕见和遗传疾病的知识。我的中长期目标是：a.进行世界级的研究，探索线粒体技术的患者和专业描述B.在国际期刊上发表高质量的文章c.成为医学社会学领域的领先学者，在遗传技术的社会和伦理影响方面拥有专业知识d.能够吸引大笔赠款，并拥有发展未来研究人员职业生涯的技能和能力

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 assistantb. 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 standardse. 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 journalsc.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