New Frameworks for Informed Consent in Genomic and Precision Medicine

项目摘要/摘要 哈德逊·阿尔法生物技术研究所 基因组医学的出现并不是没有持续不断的独特的关注 挑战在这个领域工作的临床医生。基因组检测结果对其他个体也有影响 而不是被测试的人。与此相关，对基因组数据的解释通常需要几个相关的 个体；即使到那时，关于个体的特定变体的含义还能知道什么 现在是，也将继续是对数千(或 甚至数百万人)。此外，该领域的迅速崛起也使 结果，由于缺乏基因与疾病的联系，通常反映了 而不是缺乏这样的关联。这些特征，以及无数的不确定性 与意义未知的变体捆绑在一起，或以其他方式“不可操作”或有争议的结果，摆出姿势 将结果转化为治疗计划或干预措施的直接问题 病人的价值观。 这个项目提出了一个学术作品，由一本书长的手稿组成(200页；100,000页 即)充分发展，然后应用患者自主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./作者托马斯·梅就被提供了一个 学术医学领先出版商(斯普林格)签订的出版和传播 书本形式的手稿。该项目的目标是： ·提供一个概念上合理的患者自主模型，该模型易于理解 并由没有接受过专业培训的基因组临床医生在新的环境中应用 在道德哲学上。 ·提供应用知情同意模式的具体例子 基因组医学中的共同挑战(例如，偶然发现的返还；遗传权 无知；对儿童的测试；以及对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，并将 这是在更广泛的哲学和医学伦理学文献中发展起来的模式。

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.