Genetic Counselors and the Translation of Genomic Medicine in the Twenty-First Century

项目摘要/摘要 从公共卫生资金到私人生物技术投资，在世界经济的头二十年 21世纪显然，基因组医学现在被视为 健康研究、健康信息和健康服务。因此，社会科学奖学金 这提供了一个“局外人”的视角来检查这些技术是如何被采用的 以及专业人员如何解决道德和职业困境， 围绕遗传知识和技术的提供。这本书的项目考察了 遗传咨询师-训练有素和研究不足的临床专业人员-面对 科学层面翻译的复杂领域--在最近的进展和扩展的背景下 基因组医学。特别是，这个项目探索了遗传咨询如何 职业将其翻译角色定位为遗传知识的“专家/使用者”，包括 专业人士对基因科学进步问题的立场。具体来说，这项研究的 主要目标是：i)检查遗传咨询专业如何面对、解释和 引导患者自主的生物伦理目标与知情同意之间的冲突 不断增加且往往含糊不清的复杂遗传信息的时代；ii)分析 遗传咨询职业是一个时代管理利益冲突和职业规范的职业 他们中更多的人受雇于生物技术公司，或者在这样的环境中 研究和临床之间的区别是模糊的；以及，iii)评估该专业面临的 谁应该做遗传咨询，遗传咨询师应该强调什么优先事项。在……里面 这样做，这个图书项目将分析这个不断增长的职业如何定位自己和它在 关于该领域激烈的政治和生物伦理辩论背景下的遗传决策 他们都参与了其中。这本书的独特之处在于遗传咨询师的观点和 关于他们在将遗传知识转化到临床中的作用的说明，以及 广大公众，关系到我们如何看待科学和生物医学的发展轨迹 知识，并可告知可能的道德和公平路径部署 科学知识和技术，包括对健康提供、行为和 结果。该项目利用了三个定性数据来源：深入访谈 遗传咨询师和其他健康专业人员；遗传咨询师在 教育会议和研讨会；与遗传基因密切相关的文本材料 心理咨询职业。

Project Summary/Abstract From public health funding to private biotechnology investments, in the first two decades of the twenty-first century it is clear that genomic medicine is now viewed as a key component of health research, health information, and health services. As such, social science scholarship that provides an “outsider” perspective is needed to examine how these technologies are taken up by health professionals, and how professionals tackle ethical and professional dilemmas that surround the offering of genetic knowledge and technologies. This book project examines how genetic counselors—highly trained and understudied clinical professionals—confront the complex arena of scientific-lay translation in the context of recent advances and expansions in genomic medicine. In particular, this project explores the ways in which the genetic counseling profession frames its translational role as an “expert/user” of genetic knowledge, including the profession’s stand on issues concerning advances in genetic science. Specifically, this study’s primary aims are: i) to examine how the genetic counseling profession confronts, interprets and navigates conflicts between the bioethical goals of patient autonomy and informed consent in an era of increasing, and often ambiguous, complex genetic information; ii) to analyze how the genetic counseling profession is managing conflicts-of-interest and professional norms in an era where more of them are employed by biotechnology companies, or in settings in which the lines between research and clinic are blurred; and, iii) to assess how the profession is confronting who should do genetic counseling and what priorities genetic counselors should emphasize. In so doing, this book project will analyze how this growing profession positions itself and its role in genetic decision-making in the context of heated political and bioethical debates about the field in which they are engaged. This book’s unique focus on genetic counselors’ perspectives and accounts regarding their role in the translation of genetic knowledge into the clinic, and for the public at large, matters for how we think about the trajectory of scientific and biomedical knowledge, and can inform the possible ethical and equitable pathways for the deployment of scientific knowledge and technologies, including implications for health delivery, behavior, and outcomes. The project draws on three sources of qualitative data: in-depth interviews with genetic counselors and other health professionals; observations of genetic counselors at educational conferences and workshops; and textual materials germane to the genetic counseling profession.