What more powerful form of study
of mankind could there be than to
read our own instruction book?
– Francis S. Collins
White House press conference, June 26, 2000
Earlier this year, we celebrated the 10th anniversary of a historic moment for humankind: In February 2001, Nature and Science published papers on the first draft version of the human genome. Sequencing of the human genome was completed in the most efficient way available at that time both in terms of time and costs (1). This efficient approach is also characteristic of the other goals articulated in the Human Genome Project and would not have been possible without strong collaborations between different groups, institutes and international consortia (Table 1). According to the third and final five-year plan of the HGP, one-third of the human genome was to be sequenced by the end of 2001 and the entire genome by the end of 2003 (1). However, in June 2000, the International Human Genome Sequencing Consortium announced the completion of a rough-draft sequencing of the entire human genome – an astounding achievement.
Much progress has been made between the pre- and post-genomic eras. Here, I will attempt to touch on some of the most important milestones achieved so far. In order to appreciate fully the evolution of technology and our knowledge, let us compare where we stood before the launch of the HGP with where we stand now.
Advances in technology have made sequencing more time- and cost-effective, more accurate and easier. Sequencing capacity has increased more than 1012-fold (2) since the pre-genomic era, and the cost-effectiveness associated with increased sequencing has improved at least 15,000-fold (3). Developments in sequencing technologies have outstripped Moore’s Law and outpaced progress in computational performance. Progress in sequencing even has made it possible for new disciplines like metagenomics to be born.