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The history of the human race has been filled with curiosity and discovery about our abilities and limitations. As an egotistical creature with a seemingly unstoppable desire for new accomplishments, we attempt feats with emotion and tenacity. People worldwide raced to be the first to discover the secrets and the ability of flight. Enormous amounts of monies were spent on sending people into space and the race to land on the moon. With the rapid growth of scientific knowledge and experimental methods, humans have begun to unravel and challenge another mystery, the discovery of the entire genetic make-up of the human body.

This endeavor, the Human Genome Project (HGP), has created hopes and expectations about better health care. It has also brought forth serious social issues. To understand the potential positive and negative issues, we must first understand the history and technical aspects of the HGP.

The specific goals of the HGP are to::

Scientists estimate that chromosomes in the human population differ at about 0.1%. Understanding these differences could lead to discovery of heritable diseases, as well as diseases and other traits that are common to man. Information gained from the HGP has already fueled many positive discoveries in health care. Well-publicized successes include the cloning of genes responsible for Duchenne muscular dystrophy, retinoblastoma, cystic fibrosis, and neurofibromatosis. Increasingly detailed genomic maps have also aided researchers seeking genes associated with fragile X syndrome, types of inherited colon cancer, Alzheimer's disease, and familial breast cancer.

If other disease-related genes are isolated, scientists can begin to understand the structure and pathology of other disorders such as heart disease, cancer, and diabetes. This knowledge would lead to better medical management of these diseases and pharmaceutical discovery.

Current and potential applications of genome research will address national needs in molecular medicine, waste control and environmental cleanup, biotechnology, energy sources, and risk assessment .

Molecular Medicine

Through genetic research, medicine will look more into the fundamental causes of diseases rather than concentrating on treating symptoms. Genetic screening will enable rapid and specific diagnostic tests making it possible to treat countless maladies. DNA-based tests clarify diagnosis quickly and enable geneticists to detect carriers within families. Genomic information can indicate the future likelihood of some diseases. As an example, if the gene responsible for Huntington's disease is present, it may be certain that symptoms will eventually occur, although predicting the exact time may not be possible. Other diseases where susceptibility may be determined include heart disease, cancer, and diabetes.

Medical researchers will be able to create therapeutic products based on new classes of drugs, immunotherapy techniques, and possible augmentation or replacement of defective genes through gene therapy.

Waste Control and Environmental Cleanup

In 1994, through advances gained by the HGP, the DOE formulated the Microbial Genome Initiative to sequence the genomes of bacteria useful in the areas of energy production, environmental remediation, toxic waste reduction, and industrial processing. Resulting from that project, six microbes that live under extreme temperature and pressure conditions have been sequenced. By learning the unique protein structure of these microbes, researchers may be able to use the organisms and their enzymes for such practical purposes as waste control and environmental cleanup.

Biotechnology

The potential for commercial development presents U.S. industry with a wealth of opportunities. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. The HGP has stimulated significant investment by large corporations and promoted the development of new biotechnology companies hoping to capitalize on the implications of HGP research.

Energy Sources

Biotechnology, strengthened by the HGP, will be important in improving the use of fossil-based resources. Increased energy demands require strategies to circumvent the many problems with today's dominant energy technologies. Biotechnology will help address these needs by providing a cleaner means for the bioconversion of raw materials to refined products. Additionally, there is the possibility of developing entirely new biomass-based energy sources. Having the genomic sequence of the methane-producing microorganism Methanococcus jannaschii, for example, will allow researchers to explore the process of methanogenesis in more detail and could lead to cheaper production of fuel-grade methane.

Risk Assessment

Understanding the human genome will have an enormous impact on the ability to assess risks posed to individuals by environmental exposure to toxic agents. Scientists know that genetic differences cause some people to be more susceptible than others to such agents. More work must be done to determine the genetic basis of such variability, but this knowledge will directly address the DOE's long-term mission to understand the effects of low-level exposures to radiation and other energy-related agents, especially in terms of cancer risk. Additional positive spin-offs from this research include a better understanding of biology, increased taxonomic understanding, increased development of pest-resistant and productive crops and livestock, and other commercially useful microorganisms.