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

描述(由申请者提供)：本培训和研究项目的目标是将候选人发展成为一名独立的、跨学科的ELSI研究人员，有能力将定性的实证方法与规范的方法结合起来，解决遗传学和基因组学问题。为了实现这一目标，我建议：(1)在我以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，并增加遗传学和生物伦理学方面的培训；(2)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基因创新的转化途径的研究。拟议的培训包括课程作业、定向阅读、研讨会和讲习班，以及指导开发一个跨学科的ELSI研究项目。该研究项目的长期目标是为基因创新绘制出一条ELSI集成的翻译路径：为这些翻译过程中的ELSI指导建立关键点和类型的模型。该项目的具体目标是：(1)跟踪cffDNA测试技术展开的翻译途径，作为遗传创新翻译过程的案例研究；(2)沿着遗传创新的翻译途径绘制ELSI指导的关键点。通过对利益相关者的个别采访和对利益相关者会议的观察，这一测绘项目将审查无细胞胎儿DNA(CffDNA)检测的案例，以及影响其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翻译的特征进行比较，它将确定关键时刻、转折点和交叉点，在这些关键时刻，重要的决定塑造了展开的翻译路径。最后，通过与关键利益攸关方在cffDNA和非侵入性产前检测方面的合作，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。 公共卫生相关性：ELSI研究的一个重要作用是确定ELSI考虑因素并将其纳入转译研究，促进改善公共健康，促进未得到充分服务的群体的健康公平，关注社区价值，以及保护弱势群体。通过对无细胞胎儿DNA检测发展的详细研究，该项目将为现有的翻译途径模型增加复杂性和偶然性。反过来，这将导致在整个基因创新的翻译路径上更全面、更适应情况地整合ELSI指导。

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.