New Frameworks for Informed Consent in Genomic and Precision Medicine

项目总结/摘要 哈德逊阿尔法生物技术研究所 基因组医学的出现并非没有独特的关注， 挑战在这个竞技场工作的临床医生。基因组测试结果对其他个体有影响 比测试的人。与此相关，基因组数据的解释通常需要几个相关的 个体;即使这样，我们又能知道个体的特定变体的意义是什么呢？ 是，并将继续是，成千上万的基因组数据的“大数据”分析的功能（或 甚至数百万人）。同样，该领域的迅速出现也使 结果，由于缺乏基因-疾病关联往往反映了疾病的新生状态， 而不是缺乏这种联系。这些特点，沿着着无数的不确定性 与未知重要性的变体或其他“不可操作”或有争议的结果相关， 将结果转化为治疗计划或干预措施的直接问题， 患者价值观。 这个项目提出了一个学术工作，包括一本书的长度手稿（200页; 100，000 充分发展，然后应用患者自主权和知情同意的新模式 在基因组医学的背景下。一旦完成，P.I./作家托马斯梅被提供了一个 一本书的合同，由一家领先的出版商在学术医学（施普林格）出版和传播 书稿形式。该项目的目的是： ·提供一个概念上合理的患者自主权模型，易于理解 并由没有受过复杂训练的基因组临床医生应用于新的环境中 在道德哲学中。 ·提供具体实例，说明如何应用所制定的知情同意模式， 基因组医学的共同挑战（例如，偶然发现的返回;遗传学权利） 无知;测试儿童;以及基因组技术的潜在筛查用途）。 ·批评现有的自主和知情同意的替代模式，并强调 在更广泛的哲学和医学伦理学文献中发展的模型。

Project Summary/Abstract HudsonAlpha Institute for Biotechnology The emergence of genomic medicine has not been without unique concerns that continue to challenge clinicians working in this arena. Genomic test results have implications for individuals other than the person tested. Related to this, interpretation of genomic data often requires several related individuals; and even then what can be known about the meaning of an individual's specific variants is, and will continue to be, a function of “big data” analysis of the genomic data of many thousands (or even millions) of individuals. As well, the rapid emergence of the field complicates the meaning of results, as the lack of gene-disease associations are often a reflection of the nascent state of the field, rather than the lack of such associations. These characteristics, along with myriad uncertainties tied to variants of unknown significance or otherwise "non-actionable" or contested results, pose direct problems for translation of results to treatment plans or interventions that are consistent with patient values. This project proposes a scholarly work consisting of a book-length manuscript (200 pages; 100,000 words) that fully develops, and then applies a new model of patient autonomy and informed consent in the context of genomic medicine. Once completed, P.I./author Thomas May has been offered a book contract by a leading publisher in academic medicine (Springer) to publish and disseminate the manuscript in book form. It is the aim of this project to: · Provide a conceptually sound model of patient autonomy, which can be easily understood and applied in novel circumstances by genomic clinicians who have no sophisticated training in moral philosophy. · Provide concrete examples for the application of the model of informed consent developed to common challenges in genomic medicine (e.g. return of incidental findings; rights to genetic ignorance; testing of children; and potential screening uses of genomic technologies). · Critique existing alternative models of autonomy and informed consent, and to situate the model developed here within the broader philosophical and medical ethics literature.