Johann Wolfgang Goethe University, Frankfurt, ClinPhenomics GmbH & Kardiologie Frankfurt-Sachsenhausen, Frankfurt, Germany.
Pharmacogenomics. 2010 May;11(5):613-6. doi: 10.2217/pgs.10.68.
In 2000, the year the first issue of Pharmacogenomics was launched, completion of the human genome sequence was publicly applauded, although in reality it took a few more years to obtain the first full sequence data. Within 10 years, sequencing technology has advanced to an extent seemed unreachable at that time. Whilst, in 2000, it took many years to sequence just one human genome, today such sequencing can be done within 1-2 weeks. Human genetic variation has been catalogued in depth to at least 5% prevalence in Caucasians and efforts are underway to broaden this coverage to at least 1%. Haplotype maps have been constructed to extract the most informative SNPs for genetic studies. Genome-wide association studies based on 500,000 to 1 million such SNPs for mapping and gene detection efforts are the norm today. Genotype-guided therapy is emerging into mainstream medicine, setting the stage for a future of personalized medicine as compared to today's group-based medicine, where therapeutic efficacy is defined from mean effects in large-scale Phase III studies in humans.
2000 年,第一期《药物基因组学》杂志发行,人类基因组测序工作得到了公众的称赞,尽管实际上花了几年时间才获得了第一个完整的序列数据。在 10 年内,测序技术的进步程度似乎超出了当时的预期。虽然在 2000 年,仅仅测序一个人类基因组就需要多年时间,但如今这项工作可以在 1 到 2 周内完成。人类遗传变异已经被深入分类,在白种人中至少有 5%的变异存在,目前正在努力将这一覆盖率扩大到至少 1%。单倍型图谱已经构建出来,以提取最有信息的 SNP 用于遗传研究。基于 50 万到 100 万个这样的 SNP 进行的全基因组关联研究已经成为常态,用于绘制图谱和基因检测。基于基因型的治疗正在成为主流医学,与目前基于群体的医学相比,为未来的个体化医学奠定了基础,目前的医学治疗效果是根据大规模 III 期临床试验中的平均效果来定义的。