Genomics and Pediatric Research

In the past few years impressive amounts of DNA sequence have been generated from the genomes of many species. It is now safe to claim that a “finished” version of the human genome will be available by mid-2003, just 50 y after the structure of DNA was first described (a “draft” or fragmented version of the human genome sequence has been available since 2001). There has also been much hyperbole surrounding announcements that described these achievements, and their significance for biomedical research and the human condition. Through this commentary we will introduce the series “Genetics of Childhood Disease and Development” to the pediatric clinician and scientist and provide a review on the more exciting observations of the Human Genome Project (HGP). We also aim to temper some earlier statements that need further clarification, and to make predictions of where this new science might have its greatest impact. For additional reference, we have highlighted the relevant original or review articles on these topics. A thorough overview of facts, figures, slides, educational and media presentations, and the most comprehensive set of genome-related links can be found at the “Human Genome Project Information” site (http://www.ornl.gov/hgmis/).