The Human Genome Project: Health Prospects in the Post-Genomic Era

Abstract

The human genome is the full complement of genetic material in a human cell. In 1990, the United States Department of Energy and the National Institutes of Health developed a joint research plan for their genome programs. The goals of the Human Genome Project are the following: 1) genetic and physical mapping of the genome, 2) DNA sequencing, identifying and locating genes, and 3) pursuing further developments in technology and informatics. In addition, the plan emphasizes the continuing importance of the ethical, legal, and social implications of genome research, and it underscores the critical roles of scientific training, technology transfer, and public access to research data and materials.
The public and privately funded human genome project consortia have today jointly announced the completion of a first draft of the human genome sequence by June 2000. Analysis of the sequence so far predicts 38,000 genes, far fewer than the 60,000–100,000 that the genome had been thought to contain, though the total may rise to some extent as analysis continues. The “post-genomic era,” involving the massive challenges of elucidating gene function and uncovering the genetic basis of human variation, has officially begun.

The atlas of the human genome will revolutionize medical practice and biological research into the 21st century and beyond. All human genes will eventually be found, and accurate diagnostics will be developed for most inherited diseases. In addition, animal models for human disease research will be more easily developed, facilitating the understanding of gene function in health and disease.

As research progresses, investigators will also uncover the mechanisms for diseases caused by several genes or by a gene interacting with environmental factors. Genetic susceptibilities have been implicated in many major disabling and fatal diseases, including heart disease, stroke, diabetes, and several kinds of cancer. The identification of these genes and their proteins will pave the way to more effective therapies and preventive measures. Investigators determining the underlying biology of genome organization and gene regulation will also begin to understand how humans develop from single cells to adults, why this process sometimes goes awry, and what changes take place as people age. New technologies developed for genome research will also find myriad applications in industry, as well as in projects to map (and ultimately improve) the genomes of economically important farm animals and crops.

Genomics has stimulated the growth of several new and exciting downstream disciplines, namely functional genomics, proteomics, pharmacogenomics, and gene therapy. These new sciences, sitting firmly on the shoulders of genomics and genetics, are set to carry on the more practical aspects of its sequencing foundations, up to and including a whole new world of drug discovery and therapeutics. It will someday include individualized medicines and discrete gene replacement. The fearsome diseases of cancer, cardiovascular and metabolic disorders, Alzheimer’s disease, obesity, and inherited genetic diseases have been taken on with a bravado borne of dedication, genius, and cautious enthusiasm.