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

通过无细胞胎儿 DNA 测试绘制 ELSI 整合翻译途径

• 批准号: 8882793
• 负责人: Marsha Mabry Michie
• 金额: $ 24.89万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-08-19 至 2017-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8882793
• 关键词: Adopted; Adoption; Alleles; Amniocentesis; Assisted Reproductive Technology; Bioethics; Blood; Businesses; Case Study; Cells; Characteristics; Chromosome abnormality; Clinic; Cohort Studies; Collaborations; Communities; Comparative Study; Complex; Consult; Consultations; DNA; Development; Diagnosis; Disease; Down Syndrome; Economics; Education; Educational workshop; Ethics; Fetal Cell Research; Future; Genes; Genetic; Genetic Medicine; Genetic Translation; Genetic screening method; Genomics; Goals; Guidelines; Healthcare; Individual; Information Technology; Interview; Laboratories; Lead; Legal; Maps; Medical; Mentors; Methods; Modeling; Mothers; Outcome; Participant; Pathway interactions; Perception; Phase; Play; Pregnancy; Pregnant Women; Process; Public Health; Qualitative Methods; Reading; Research; Research Personnel; Research Project Grants; Rights; Risk; Role; Scientist; Shapes; Spontaneous abortion; Techniques; Technology; Testing; Time; Training; Translation Process; Translational Research; Translations; Travel; Vulnerable Populations; abortion; clinical application; clinical practice; cost; disability; ethical legal social implication; expectation; experience; fetal; fetus cell; forgetting; health equity; improved; innovation; interest; maternal serum; meetings; new technology; pregnant; prenatal; prenatal testing; social; symposium; training project

PROJECT SUMMARY/ABSTRACT 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.

项目总结/摘要 该培训和研究项目的目标是将候选人发展成为一个独立的， 跨学科的ELSI研究人员，具有将定性经验与规范方法相结合的能力 遗传学和基因组学的问题。为了实现这一目标，我建议：（1）建立 根据我以前的教育和经验，作为一个定性的社会科学家，在遗传学方面的额外培训 （2）采取社会科学和生物伦理相结合的方法进行的研究， 理解和指导新基因创新的转化途径。拟议的培训 包括课程作业、指导性阅读、研讨会和讲习班，以及 跨学科ELSI研究项目。 该研究项目的长期目标是绘制出一个ELSI整合的遗传转化途径， 创新：建立一个模型的关键点，和类型，ELSI的指导，在这些翻译 流程.本课题的具体目的是：（1）研究cffDNA的解折叠翻译途径 测试技术，作为遗传创新翻译过程的案例研究;（2）映射关键 点ELSI指导沿着转化途径的遗传创新。通过个别访谈 与利益攸关方和利益攸关方会议的意见，这一绘图项目将 检查无细胞胎儿DNA（cffDNA）测试的情况下，影响其行为者和网络 向潜在的临床应用发展。将该过程的特征与其他过程的特征进行比较， 基因创新的翻译，它将确定关键时刻，转折点，和交叉点， 重要的决定塑造了展开的翻译途径。最后，通过与关键 cffDNA和非侵入性产前检测的利益相关者，将开发一个模型，提出各种类型的 道德和社会指导这些关键点，可能是最有益的。