The human genome project: Where are we now and where are we going?

Abstract

In the 1970s an explosion in our understanding of genetics and biochemistry led to the development of novel laboratory techniques such as restriction enzymes, cloning vectors, nucleic acid hybridization, and DNA sequencing, which revolutionized molecular biology research. In this fertile atmosphere, the seeds of genome sequencing were sown. The progressive spirit pervading research in the life sciences at this time helped to fuel the conception of the Human Genome Project (HGP), whose primary aims were to determine the identity of the three billion nucleotides comprising the human genome and characterize the full repertoire of genes encoded therein. Delineation of the human genome sequence has consequently enhanced our understanding of human genetics, and ignited the development of such diverse disciplines as comparative genomics, pharmacogenetics, and nutrigenomics. The fruits of the HGP directly contributed to the creation of the HapMap and 1,000 Genomes projects, which has since provided the basis for whole genome association (WGA) studies, thereby facilitating elucidation of the genetic variants that underlie the development of complex diseases including cancer, diabetes, autoimmune syndromes, and neurological disorders. Thus, the HGP continues to exert a significant influence upon our comprehension of human genetics, our understanding of complex disease susceptibility, and ultimately, the manner in which scientific research is currently conducted.