One step closer to personalized genomic medicine

This editorial refers to ‘Cardiovascular manifestations in men and women carrying a FBN1 mutation’†, by D. Détaint et al., on page 2223 We are rapidly entering an era of personalized genomic medicine. The complete sequencing of the human genome was first announced >9 years ago, and soon afterwards the annotated human genome sequence was available online.1 Today, DNA analysis that was once considered onerous has become routine. Although not perfect, ‘next-generation’ techniques for rapid and low-cost sequencing have been applied to whole human genome determination. The use of massively parallel, high-throughput sequencing to analyse the human genome was first published in 2008 with a reduction in cost estimated from US$100 million to ∼US$1 million2. Soon afterwards, two additional whole human genome sequences were reported, with estimated costs reduced even further.3,4 Investigators recently reported whole human genome analysis by another next-generation technique, Sequencing by Oligonucleotide Ligation and Detection (SOLiD) to determine the cause of recessive Charcot–Marie–Tooth disease.5 The estimated cost for this herculean task was