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

患者和专业人士对风险的理解：遗传知识的复杂性和不确定性如何影响生殖决策

基本信息

批准号：
ES/K00901X/1
负责人：
Rebecca Dimond
金额：
$ 24.1万
依托单位：
CARDIFF UNIVERSITY
依托单位国家：
英国
项目类别：
Research Grant
财政年份：
2014
资助国家：
英国
起止时间：
2014 至无数据
项目状态：
已结题

来源：
https://gtr.ukri.org/projects?ref=ES%2FK00901X%2F1
关键词：
Patient professional understandings risk how

项目摘要

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

这项研究将在生殖技术的动态和令人兴奋的发展的背景下进行。涉及线粒体捐赠的新型体外受精技术的出现可能使患有线粒体疾病的妇女有机会生下健康的孩子。下一代出生时没有线粒体疾病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，假设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。正是在这个关键时刻，拟议的研究将通过检查线粒体疾病患者如何做出生殖选择，他们是否以及如何协商体外受精技术，并将确定塑造或指导他们决定的背景，从而有助于辩论。线粒体是细胞细胞质中含有的小型能量产生结构。它们是通过女性遗传的，这意味着患有线粒体DNA突变引起的疾病的女性的孩子将继承这些突变。位于纽卡斯尔的威康信托线粒体研究中心的科学家们已经开发出了一种开创性的技术，该技术涉及将线粒体有缺陷的卵子（来自患有线粒体疾病的女性）的细胞核移除，并将其移植到含有健康线粒体的e核卵子（来自捐赠者）中。由于来自捐赠卵子的线粒体DNA可以被后代遗传，这些开创性的“生殖系”技术挑战了现有的法律和伦理框架，需要对法律进行修改才能将它们提供给患者。这些技术引起了媒体的强烈兴趣，“三亲婴儿”占据了头条新闻，并引发了人们对设计婴儿和人类基因改造可能出现的“滑坡效应”的担忧。最终，这些技术的未来应用取决于患者和家属对自身及其基因遗传的复杂风险信息的评估。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展的影响，并在此过程中贡献具有实际应用价值的重要知识。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：领导和管理课程，并指导一名研究助理。两个实习机会，培养影响的关键技能。一个是支持罕见和遗传疾病患者群体的政策重点组织，另一个是具有患者教育专业知识的学术研究中心。c.广泛传播研究成果，并与包括科学家、临床医生、社会科学家和患者在内的外行、专业和学术受众进行持续讨论。d.与社会学中排名较高的期刊《健康与疾病社会学》的编辑团队合作，提供了一个奇妙的机会，了解编辑过程，裁判制度和学术标准。该奖学金的优势在于，它通过严格的研究、传播、参与和专业发展计划，巩固了我对罕见病和遗传病的知识。我的中期和长期目标是：开展世界级的研究，探索线粒体技术的患者和专业账户。在国际期刊上发表高质量的文章。成为医学社会学领域的顶尖学者，在基因技术的社会和伦理影响方面具有专业知识。d.能够吸引大笔资助，并具备发展未来研究人员职业生涯的技能和能力