Meier Robert J
Indiana University, Department of Anthropology, Bloomington, IN 47408, USA.
Coll Antropol. 2012 Mar;36(1):5-10.
Now that a composite human genome has been sequenced (HGP), research has accelerated to discover precise genetic bases of several chronic health issues, particularly in the realms of cancer and cardiovascular disease. It is anticipated that in the future it will be possible and cost effective to regularly sequence individual genomes, and thereby produce a DNA profile that potentially can be used to assess the health risks for each person with respect to certain genetically predisposed conditions. Coupled with that enormous diagnostic power, it will then depend upon equally rapid research efforts to develop personalized courses of treatment, including that of pharmaceutical therapy. Initial treatment attempts have been made to match drug efficacy and safety to individuals of assigned or self-identified groups according to their genetic ancestry or presumed race. A prime example is that of BiDil, which was the first drug approved by the US FDA for the explicit treatment of heart patients of African American ancestry. This race-based approach to medicine has been met with justifiable criticism, notably on ethical grounds that have long plagued historical applications and misuses of human race classification, and also on questionable science. This paper will assess race-based medical research and practice in light of a more thorough understanding of human genetic variability. Additional concerns will be expressed with regard to the rapidly developing area of pharmacogenomics, promoted to be the future of personalized medicine. Genomic epidemiology will be discussed with several examples of on-going research that hopefully will provide a solid scientific grounding for personalized medicine to build upon.
既然人类基因组已经完成测序（人类基因组计划），对于几种慢性健康问题，尤其是癌症和心血管疾病领域精确遗传基础的研究已加速推进。预计未来定期对个体基因组进行测序将变得可行且具有成本效益，从而生成一份DNA图谱，该图谱有可能用于评估每个人在某些遗传易感性疾病方面的健康风险。伴随着这种巨大的诊断能力，接下来将同样依赖快速的研究工作来开发个性化的治疗方案，包括药物治疗。最初的治疗尝试是根据个体指定或自我认定的群体的遗传血统或假定种族，使药物疗效和安全性与之相匹配。一个典型的例子是必达妥（BiDil），它是美国食品药品监督管理局（FDA）批准的首个明确用于治疗非裔美国人心血管疾病患者的药物。这种基于种族的医学方法受到了合理的批评，特别是基于长期困扰人类种族分类历史应用和滥用的伦理理由，以及存在问题的科学依据。本文将根据对人类遗传变异性更全面的理解，评估基于种族的医学研究和实践。对于快速发展的药物基因组学领域也将表达更多担忧，该领域被宣传为个性化医学的未来。将通过几个正在进行的研究实例来讨论基因组流行病学，有望为个性化医学提供坚实的科学基础。
