personalized medicine and pharmacogenomics: ethical and social challenges.
personalized medicine and pharmacogenomics: ethical and social challenges.
复制标题
DOI：
10.1517/17410541.2.1.29
复制
发表时间：
2005-03-01
影响因子：
2.3
通讯作者：
Lee, Sandra Soo-Jin
中科院分区：
文献类型：
--
作者：
Lee, Sandra Soo-Jin
人类基因变异研究的最新进展推动了对个性化医疗时代即将到来的预测。个性化医学被定义为向医疗保健中更大的集成和启发式创新的转变，寻求为分子水平上定义的疾病预防创造差异化策略[1]。基因测序技术的最新发展集中在提高药物开发过程中的疗效和效率上。从药物遗传学学科中脱颖而出的药物基因组学--通过使用高通量技术研究基因之间的相互作用--作为最能兑现基因组医学承诺的领域而受到关注[2]。药物遗传学和药物基因组学之间的区别并不明确；虽然有人认为规模和焦点的差异区分了这两个领域，但本文使用的术语药物基因组学指的是对药物反应中遗传变异的广泛研究范围。通过鉴别诊断，药物反应与分子亚群联系在一起，这可能允许开发“量身定制”的药物[3]。然而，这些潜在的好处面临着几个挑战。药物基因组学和个性化药物疗法成功的关键是创建包含人类基因和表型信息的大型数据库，采用药物基因组测试作为医疗保健的标准，以及在平衡商业和公共卫生优先事项方面提供更多监管指导。在预期这些医疗保健轨迹的情况下，需要认真参与药物基因组学的伦理和社会影响。本文回顾了其中的几个问题，并强调了在个性化药物开发的预期中必须解决的问题。
Recent developments in human genetic variation research have fueled predictions of an imminent era of personalized medicine. Defined as a shift toward greater integrated and heuristic innovation in healthcare, personalized medicine seeks to create differentiated strategies for the prevention of disease defined at the molecular level [1] . Recent developments in gene sequencing technologies have focused efforts toward improving efficacy and efficiency in the drug development process. Emerging from the discipline of pharmacogenetics, pharmacogenomics - the study of gene-to-gene interactions through the use of high-throughput technologies - has gained attention as the field most able to deliver on the promises of genomic medicine [2] . The distinction between pharmacogenetics and pharmacogenomics is not clear; while some have argued that differences of scale and focus distinguish the fields, this article uses the term, 'pharmacogenomics', to mean the broad scope of research on inherited variation in drug response. Through differential diagnosis, drug response is being linked to molecular subgroups that may allow for the development of 'tailored' medications [3] . However, several challenges confront these potential benefits. Critical to the success of pharmacogenomics and personalized drug therapies are the creation of large databases containing human genotypic and phenotypic information, the adoption of pharmacogenomic testing as a standard of medical care, and greater regulatory guidance on balancing commercial and public health priorities. In anticipation of these healthcare trajectories, serious engagement with the ethical and social implications of pharmacogenomics is needed. This article reviews several of these issues and highlights concerns that must be addressed in anticipation of personalized drug development.