The HGP has revealed that there are probably about 20,500 human genes. This ultimate product of the HGP has given the world a resource of detailed information about the structure, organization and function of the complete set of human genes. This information can be thought of as the basic set of inheritable “instructions” for the development and function of a human being.
The International Human Genome Sequencing Consortium published the first draft of the human genome in the journal Nature in February 2001 with the sequence of the entire genome’s three billion base pairs some 90 percent complete. More than 2,800 researchers who took part in the consortium shared authorship.A startling finding of this first draft was that the number of human genes appeared to be significantly fewer than previous estimates, which ranged from 50,000 genes to as many as 140,000. The full sequence was completed and published in April 2003.
Upon publication of the majority of the genome in February 2001, Francis Collins, then director of the National Human Genome Research Institute, noted that the genome could be thought of in terms of a book with multiple uses: “It’s a history book – a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.”
The tools created through the HGP also continue to inform efforts to characterize the entire genomes of several other organisms used extensively in biological research, such as mice, fruit flies and flatworms. These efforts support each other, because most organisms have many similar, or “homologous,” genes with similar functions. Therefore, the identification of the sequence or function of a gene in a model organism, for example, the roundworm C. elegans, has the potential to explain a homologous gene in human beings, or in one of the other model organisms.
Of course, information is only as good as the ability to use it. Therefore, advanced methods for widely disseminating the information generated by the HGP to scientists, physicians and others, is necessary in order to ensure the most rapid application of research results for the benefit of humanity. Biomedical technology and research are particular beneficiaries of the HGP.
However, the momentous implications for individuals and society for possessing the detailed genetic information made possible by the HGP were recognized from the outset. Another major component of the HGP – and an ongoing component of NHGRI – is therefore devoted to the analysis of the ethical, legal and social implications (ELSI) of our newfound knowledge, and the subsequent development of policy options for public consideration.