Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978 Israel.
Pharmacogenomics. 2010 Apr;11(4):469-70. doi: 10.2217/pgs.10.41.
Lack of knowledge regarding genotype-phenotype correlations is often cited as the major barrier delaying the uptake of pharmacogenomics into routine medical practice. When we look forward to genome-wide association studies as one of the most promising tools for overcoming the pharmacogenomics knowledge barrier, we must keep in mind that having large patient cohorts may not help improve our understanding of alleles implicated in drug-response phenotypes, unless we ensure that such phenotypes are precise and pertinent. It may be wiser, and far more cost effective, to invest scarce research funding in accurate patient drug-response phenotyping than to genotype (or fully sequence) hundreds to thousands of study participants. Biobanks created with personalized medicine research in mind should, when possible, have access to donors' clinical data, including detailed disease- and drug-response phenotypes.
缺乏关于基因型-表型相关性的知识通常被认为是阻碍将药物基因组学纳入常规医疗实践的主要障碍。当我们展望全基因组关联研究作为克服药物基因组学知识障碍的最有前途的工具之一时，我们必须记住，拥有大量的患者队列可能无助于我们理解与药物反应表型相关的等位基因，除非我们确保这些表型是精确和相关的。与对数百到数千名研究参与者进行基因分型（或完全测序）相比，将稀缺的研究资金投资于准确的患者药物反应表型分析可能更为明智，也更为经济有效。在考虑个性化医学研究的情况下创建的生物库应该能够（在可能的情况下）访问供体的临床数据，包括详细的疾病和药物反应表型。
