Pharmacogenomics – 10 years of progress: a cardiovascular perspective

Abstract

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.