针对罕见遗传疾病的个体化干预措施和研究-治疗谱：利益相关者的观点。
Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives.
机构信息
Division of Ethics, Department of Medical Humanities and Ethics, Columbia University, New York, NY.
Division of Ethics, Department of Medical Humanities and Ethics, Columbia University, New York, NY.
出版信息
Genet Med. 2023 Jun;25(6):100832. doi: 10.1016/j.gim.2023.100832. Epub 2023 Mar 22.
PURPOSE
Advances in the study of ultrarare genetic conditions are leading to the development of targeted interventions developed for single or very small numbers of patients. Owing to the experimental but also highly individualized nature of these interventions, they are difficult to classify cleanly as either research or clinical care. Our goal was to understand how parents, institutional review board members, and clinical geneticists familiar with individualized genetic interventions conceptualize these activities and their implications for the relationship between research and clinical care.
METHODS
We conducted qualitative, semi-structured interviews with 28 parents, institutional review board members, and clinical geneticists and derived themes from those interviews through content analysis.
RESULTS
Individuals described individualized interventions as blurring the lines between research and clinical care and focused on hopes for therapeutic benefit and expectations for generalizability of knowledge and benefit to future patients.
CONCLUSION
Individualized interventions aimed at one or few patients reveal the limitations of a binary framing of research and clinical care. As a hybrid set of activities, individualized interventions suggest the need for flexibility and new frameworks that acknowledge these activities across the spectrum of research and clinical care.
目的
对超罕见遗传疾病的研究进展使得针对少数患者的靶向干预措施得以开发。由于这些干预措施具有实验性，且高度个体化，因此很难将其明确归类为研究或临床护理。我们的目标是了解熟悉个体化遗传干预措施的家长、机构审查委员会成员和临床遗传学家如何对这些活动进行概念化，以及它们对研究与临床护理之间关系的影响。
方法
我们对 28 名家长、机构审查委员会成员和临床遗传学家进行了定性、半结构化访谈，并通过内容分析从这些访谈中得出主题。
结果
个体将个体化干预描述为模糊了研究和临床护理之间的界限，并关注治疗益处的希望以及对知识和未来患者受益的可推广性的期望。
结论
针对一个或少数几个患者的个体化干预措施揭示了将研究和临床护理划分为二元框架的局限性。作为一组混合活动，个体化干预措施表明需要灵活性和新的框架，以承认这些活动贯穿研究和临床护理的各个方面。
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