Mapping an ELSI-integrated translational pathway with cell-free fetal DNA testing

描述（由申请人提供）：该培训和研究项目的目标是将候选人培养成为一名独立的跨学科ELSI研究员，具有将遗传学和基因组学问题的定性经验与规范方法相结合的能力。为了实现这一目标，我建议：(1)在我之前作为一名定性社会科学家的教育和经验的基础上进行培训，并在遗传学和生物伦理学方面进行额外的培训；(2)结合社会科学和生物伦理学的方法来理解和指导新的基因创新的转化途径的研究。拟议的培训包括课程作业、指导阅读、研讨会和讲习班，以及跨学科ELSI研究项目的指导发展。该研究项目的长期目标是为基因创新绘制一条ELSI集成的转化途径：在这些转化过程中，为ELSI指导的关键点和类型建立一个模型。本项目的具体目标是：(1)跟踪cffDNA检测技术的转化路径，作为基因创新转化过程的案例研究；(2)绘制基因创新转化路径上ELSI指导的关键点。通过与利益相关者的个人访谈和对利益相关者会议的观察，该测绘项目将研究无细胞胎儿DNA （cffDNA）检测的情况，以及影响其向潜在临床应用发展的行动者和网络。将这一过程的特征与其他基因创新的翻译进行比较，它将确定关键时刻、转折点和十字路口，在这些关键时刻，重要的决定塑造了正在展开的翻译途径。最后，通过与cffDNA和非侵入性产前检测的主要利益相关者合作，将开发一个模型，为这些关键点提出可能最有益的伦理和社会指导类型。

DESCRIPTION (provided by applicant): The objective of this training and research project is to develop the candidate into an independent and interdisciplinary ELSI researcher, with the ability to intertwine qualitative empirical with normative approaches to issues in genetics and genomics. To accomplish this objective, I have proposed: (1) Training that builds upon my previous education and experience as a qualitative social scientist with additional training in genetics and bioethics; and (2) Research that takes a combined social scientific and bioethical approach to understanding and guiding the translational pathways of new genetic innovations. The proposed training includes coursework, directed readings, seminars and workshops, and the mentored development of an interdisciplinary ELSI research project. The long-term goal of the research project is to map out an ELSI-integrated translational pathway for genetic innovations: building a model of crucial points for, and types of, ELSI guidance throughout these translational processes. The specific Aims of this project are: (1) To follow the unfolding translational pathway of cffDNA testing technology, as a case study in translation processes for genetic innovations; and (2) To map crucial points for ELSI guidance along the translational pathway of genetic innovations. Through individual interviews with stakeholders and observations of meetings and conferences of stakeholders, this mapping project will examine the case of cell-free fetal DNA (cffDNA) testing and the actors and networks that influence its development toward potential clinical applications. Comparing features of this process with those of other translations of genetic innovations, it will identify critical moments, turning points, and intersections at which important decisions shape the unfolding translational pathway. Finally, through collaboration with key stakeholders in cffDNA and non-invasive prenatal testing, a model will be developed that proposes types of ethical and social guidance for these crucial points that would likely be most beneficial. PUBLIC HEALTH RELEVANCE: A significant part of the role of ELSI research is the identification and integration of ELSI considerations into translational research, promoting improved public health, health equity for underserved groups, concern for community values, and protection for vulnerable populations. Through detailed examination of the development of cell-free fetal DNA testing, this project will add complexity and contingency to existing models of the translational pathway. This, in turn, will lead to fuller and more situationally-responsive integration of ELSI guidance along the entire translational pathway for genetic innovations.