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

二十一世纪的遗传咨询师和基因组医学的翻译

• 批准号: 10115424
• 负责人: SUSAN MARKENS
• 金额: $ 4.99万
• 依托单位: HERBERT H. LEHMAN COLLEGE
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10115424
• 关键词: Bioethics; Biotechnology; Books; Caring; Clinic; Clinical; Clinical Medicine; Complex; Conflict (Psychology); Conflict of Interest; Data; Decision Making; Educational workshop; Ethical Issues; Ethics; Face; Funding; Future; Genetic; Genetic Counseling; Genetic Translation; Genomic medicine; Genomics; Goals; Health; Health Policy; Health Professional; Health Services; Human Genome; Information Services; Informed Consent; Interview; Investments; Knowledge; Length; Manuscripts; Medical; Pathway interactions; Patients; Policy Maker; Politics; Positioning Attribute; Privatization; Public Health; Research; Role; Scholarship; Science of genetics; Social Sciences; Source; Technology; Training; Translating; Translations; Work; Writing; behavioral outcome; genetic counselor; genetic information; genetic technology; genome sciences; insight; population health; precision medicine; response; symposium

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.

项目摘要/摘要 从公共卫生资金到私人生物技术投资， 二十一世纪很明显，基因组医学现在被视为 健康研究，健康信息和卫生服务。因此，社会科学科学 需要一个“局外人”的观点来检查如何采用这些技术 由卫生专业人员以及专业人员如何应对道德和专业困境 围绕提供遗传知识和技术。本书项目考试如何 遗传计数（受过高度培训和了解临床专业人员） 在最近的进步和扩张的背景下，科学层翻译的复杂领域 基因组医学。特别是，该项目探讨了遗传咨询的方式 职业构成了其作为遗传知识的“专家/用户”的转化角色，包括 专业在遗传科学进步方面的立场。具体来说，这项研究是 主要目的是：i）研究遗传咨询行业如何面对，解释和 导航患者自治的生物伦理目标与知情同意之间的冲突 增加，通常是模棱两可的，复杂的遗传信息的时代； ii）分析如何 遗传咨询行业正在管理一个时代的利益冲突和专业规范 其中更多的生物技术公司或在这些线路的设置中 研究和诊所之间的模糊；以及，iii）评估该行业如何面对 谁应该进行遗传咨询以及遗传咨询师应强调哪些优先事项。在 因此，这本书项目将分析这个不断发展的职业如何定位自己及其在 在激烈的政治和生物伦理辩论的背景下，基因决策 他们参与其中。这本书的独特关注遗传硬币的观点和 关于它们在将遗传知识转化为诊所的作用，以及 公众总的来说，我们如何看待科学和生物医学的轨迹 知识，可以为部署的可能道德和公平途径提供信息 科学知识和技术，包括对卫生提供，行为和 结果。该项目借鉴了定性数据的三个来源：与 遗传计数和其他卫生专业人员；对通用计数的观察 教育会议和讲习班；和遗传的文字材料 咨询行业。