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

描述（由申请人提供）：本培训和研究项目的目标是将候选人培养成独立的跨学科ELSI研究人员，能够将定性经验与规范方法结合起来，解决遗传学和基因组学问题。为了实现这一目标，我建议：（1）培训，建立在我以前的教育和经验，作为一个定性的社会科学家，在遗传学和生物伦理学的额外培训;（2）研究，采取社会科学和生物伦理学相结合的方法来理解和指导新的遗传创新的转化途径。拟议的培训包括课程，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绘制出一个ELSI整合的遗传创新转化途径：建立一个模型的关键点，和类型，ELSI指导整个这些转化过程。本项目的具体目标是：（1）跟踪cffDNA检测技术的展开翻译途径，作为遗传创新翻译过程的案例研究;（2）绘制ELSI指导基因创新翻译途径的关键点沿着。通过与利益相关者的个别访谈以及对利益相关者会议的观察，该绘图项目将研究无细胞胎儿DNA（cffDNA）测试的情况以及影响其向潜在临床应用发展的参与者和网络。将这一过程的特征与基因创新的其他转化的特征进行比较，将确定重要决策塑造正在展开的转化途径的关键时刻、转折点和交叉点。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.