为精准医学的伦理实践做准备

M. Allyse, R. Sharp
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引用次数: 0

摘要

遗传学在医学中的作用正在迅速变化。新的发现正在迅速弥合从实验室到床边的鸿沟,除了医学进步之外,成千上万的人正在通过直接面向消费者的公司探索他们的基因特征和祖先。跟上这些变化及其对患者护理的潜在影响可能是困难的。为了提供帮助,我们就基因组医学的现状提出了几个高层次的参考点,重点是这些技术引起的伦理和社会问题。这篇综述涵盖了基因组医学的兴起、信息超载、直接获取遗传信息、遗传歧视和知情同意。表格列出了美国医学遗传学和基因组学学院对报告临床外显子组和基因组测序中偶然发现的建议,摘自《遗传信息非歧视法》,以及为医生提供的遗传学教育资源。本综述包含3个表格,44篇参考文献。关键词:基因组医学,基因医学,医学遗传学,基因检测,直接面向消费者的遗传学,基因歧视
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Preparing for the Ethical Practice of Precision Medicine
The role of genetics in medicine is changing quickly. New discoveries are rapidly bridging the chasm from bench to bedside, and in addition to medical advances, thousands of people are exploring their genetic traits and ancestry through direct-to-consumer companies. Staying abreast of these changes and their potential implications for patient care can be difficult. To help, we suggest several high-level points of reference regarding the current state of genomic medicine, with a focus on the ethical and social issues raised by these technologies. This review covers the rise of genomic medicine, information overload, direct access to genetic information, genetic discrimination, and informed consent. Tables list the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings in clinical exome and genome sequencing, an excerpt from the Genetic Information Nondiscrimination Act, and genetics education resources for physicians. This review contains 3 tables, and 44 references. Key words: Genomic medicine, genetic medicine, medical genetics, genetic testing, direct-to-consumer genetics, genetic discrimination
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