The international consortium announces the completion of the Human Genome Project

The International Consortium for the Sequencing of the Human Genome, of which Genoscope is the French representative, has announced the completion of the Human Genome Project two years ahead of initial predictions. The chain of three billion "letters" which constitutes the sequence of the human genome is now known with great precision. This result marks the success of a project which, because of its scope, has often been called the "Apollo project of biology." It has been acclaimed in a Common Declaration of the heads of state of the 6 countries which participated in the project (Germany, China, the US, France, Japan, Great Britain), including Jacques Chirac, President of France.

This announcement follows that of June 2000 at the White House, when the completion of a first draft of the human genome was reported. This draft constituted an intermediate step, which became necessary because of the risk of human genome sequence data being monopolized by private sector interests. It provided a first view of our common hereditary patrimony, but still included many errors and numerous gaps. The quality of the sequence was therefore not good enough for exhaustive searches for human genes, estimated to number 30,000. This inventory of genes is the principal benefit expected from the human genome project, and is expected to transform biology and medicine in the 21st century.

The difficult finishing task amounted to three years of hard labor for the scientists of the consortium, working in 20 sequencing centers in 6 countries. Sequence blocks from the draft sequence were ordered and oriented, the majority of gaps filled and the error rate was reduced ten-fold, to attain only one error in 10,000 bases (the bases are the letters of the DNA molecule, which constitutes our genome). Genoscope finished its share of the job in autumn 2002: - the Complete Sequencing of the Long Arm of Chromosome 14, 87 million base pairs long, and the inventory of the genes of this chromosome - ; our analysis of this sequence was published on January 1, 2001 in Nature. Human chromosome 14 was the fourth chromosome for which the sequence has been published, and the first to be published without residual gaps. Others should follow soon, but the sequencing data from the ensemble of the genome is already accessible in public databases, available to scientists all over the world.

In 1990, when the Human Genome Project was launched, the forecast prepared for the American Congress fixed the completion date at 2005, for a total cost of 3 billion dollars. The project has been completed today, two years ahead of time, at a cost on "only" 2.7 billion dollars (1991 fiscal year dollars). Scientists who launched the project were counting on technical innovations and a reduction in the cost of sequencing, but progress greatly exceeded their expectations. Thus the initial phase which concentrated on mapping efforts, produced a genetic map in the mid-nineties with higher resolution than initially expected, a success in which French scientists played a major role. By pioneering the development of large-scale biology, the Human Genome Project profoundly transformed biological sciences during the 1990s.

The expected benefits for human health will take a long time to materialize in most cases. However, they are already being felt in the search for genes implicated in genetic diseases. Thus, whereas less than 100 human disease genes were known in 1990, more than 1400 have been identified today. Besides the possibilities of diagnosis and attempts at gene therapy, a knowledge of these genes leads to a better understanding of the molecular mechanisms of these diseases, and the hope of new therapeutic approaches. In the near future, genes for susceptibility to common diseases such as diabetes and cardiovascular diseases will be identified. The DNA sequence and the catalogue of genes associated with it will thus become the basis for further progress in medical biology. On a more fundamental level, the functional characterization of the ensemble of human genes will be the starting point for addressing the big unanswered quesions which remain in the study of human beings, such as understanding the organization of the nervous system, or the regualtion of the immune system, which is a crucial element in the fight against AIDS and cancer.

The scientific advances which will directly or indirectly be enabled by the Human Genome Project will have repercussions in several sectors of society, but also, anthropologically speaking, on our view of ourselves. The ethical, legal and social dimensions of these transformations have been taken into account by the project, and part of the project budget was earmarked for studies of these subjects. The last essential point is the continuing engagement of scientists and financing institutions for the duration of the project, to ensure that the sequence of our genome, which is shared at a level of more than 99.9% between any two individuals on this planet, remains a part of our "common heritage."

Acces to the official statement (format Acrobat Reader) of the National Human Genome Research Institute (NHGRI) and the Department of Energy (DOE) on the completion of the Human Genome Project.

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