The Human Genome Project - The Human Genome Projectis Completed

After the publication of a first-draft human genome in 2000, work continued to fill in the blanks and produce a complete and accurate sequence. On January 10, 2003, another milestone in the human genome sequencing effort was reported: the fourth human chromosome—chromosome 14, the largest one to date, with eighty-seven million base pairs—had been sequenced. Researchers Jean Weissenbach (1946–) and Roland Heilig of Genoscope, France's National Sequencing Center in Paris, published their findings online in Nature. They found two genes that are vital for immune responses on chromosome 14, and about sixty genes that, when defective, contribute to disorders such as spastic paraplegia and Alzheimer's disease.

In a remarkable coincidence that made the crowning achievement of the HGP even more poignant, the completion of the sequencing of the human genome occurred during the same year slated for celebrations of the fiftieth anniversary of the discovery of the DNA double helix. On April 14, 2003, the International Human Genome Sequencing Consortium, directed in the United States by the DOE and NHGRI, announced the successful completion of the HGP more than two years earlier than had been anticipated. The International Human Genome Sequencing Consortium included scientists at twenty sequencing centers in China, France, Germany, Great Britain, Japan, and the United States. The five institutions that generated the most sequences were Baylor College of Medicine, Houston; Washington University School of Medicine, St. Louis; Whitehead Institute/Massachusetts Institute of Technology Center for Genome Research, Cambridge, Massachusetts; the Joint Genome Institute, Walnut Creek, California; and the Wellcome Trust Sanger Institute, Cambridge, England.

Nature, the very same journal that had published the groundbreaking discoveries of Watson and Crick fifty years earlier, hailed the era of the genome in its special April 24, 2003, edition. As had been the practice since the inception of the HGP, the entirety of sequence data generated by the HGP was immediately entered into public databases and made freely available to the scientific community throughout the world, with no restrictions on its use or redistribution. The data are used by researchers in academic settings and industry, as well as by commercial firms that provide information services to biotechnologists. Figure 7.6 shows some of the landmarks in the sequenced human genome.

In the April 14, 2003, press release "All Goals Achieved: New Vision for Genome Research Unveiled," the NHGRI described the international effort to sequence the three billion DNA base pairs in the human genome as "one of the most ambitious undertakings of all time," comparing it to feats such as splitting the atom or traveling to the moon. NHGRI director Francis Collins proudly declared that "the Human Genome Project has been an amazing adventure into ourselves, to understand our own DNA instruction book, the shared inheritance of all humankind. All of the project's goals have been completed successfully—well in advance of the original deadline and for a cost substantially less than the original estimates." In the same press release Eric Lander, the director of the Whitehead Institute/Massachusetts Institute of Technology Center for Genome Research, predicted the postgenomic era when he asserted, "The Human Genome Project represents one of the remarkable achievements in the history of science. Its culmination this month signals the beginning of a new era in biomedical research. Biology is being transformed into an information science, able to take comprehensive global views of biological systems. With knowledge of all the components of the cells, we will be able to tackle biological problems at their most fundamental level."

Collins urged the scientific community not to rest on its laurels in the wake of this triumph, saying, "With this foundation of knowledge firmly in place, the medical advances promised from the project can now be significantly accelerated." The April 24, 2003, issue of Nature detailed the challenges researchers would face in the postgenomic era as they sought to employ the HGP data to treat disease and improve public health. Recommendations included collaborative efforts to produce:

• New tools to allow discovery in the not-too-distant future of the genetic contributions to frequently occurring diseases, including diabetes, heart disease, and mental illnesses such as schizophrenia
• Improved methods for the early detection of disease and to enable timely treatment when it is likely to be effective
• New technologies able to sequence the entire genome of any person affordably, ideally for less than $1,000
• Wider access to tools and technologies of "chemical genomics" to enhance understanding of biological pathways and accelerate pharmaceutical and other treatment research

Along with the special commemorative issue of Nature, the April 11, 2003, edition of Science ran articles that described the HGP and detailed the multidisciplinary DOE plan dubbed "Genomes to Life," which aimed to use HGP data to understand the ways in which microbes can provide opportunities to develop clean energy, reduce climate change, and clean the environment.

In the United Kingdom Allan Bradley (1960–), the director of the Wellcome Trust Sanger Institute, stated, "Completing the human genome is a vital step on a long road, but the eventual health benefits could be phenomenal." The Wellcome Trust issued a statement observing that more than 350 biomedical advances had reached the stage of clinical trials, affirming the role of HGP data in fueling therapeutic discoveries.