Then, in 1984, at a meeting convened jointly by the DOE and the International Commission for Protection Against Environmental Mutagens and Carcinogens, the question was first seriously asked: Can we, and should we, sequence the human genome? That is, can we develop the technology to obtain a word-by-word copy of the entire genetic script for an "average" human being, and thus to establish a benchmark for detecting the elusive mutagenic effects of radiation and cancer-causing toxins? Answering such a question was not simple. Workshops were convened in 1985 and 1986; the issue was studied by a DOE advisory group, by the Congressional Office of Technology Assessment, and by the National Academy of Sciences; and the matter was debated publicly and privately among biologists themselves. In the end, however, a consensus emerged that we should make a start.
Adding impetus to the DOE's earliest interest in the human genome was the Department's stewardship of the national laboratories, with their demonstrated ability to conduct large multidisciplinary projects -- just the sort of effort that would be needed to develop and implement the technological knowhow needed for the Human Genome Project. Biological research programs already in place at the national labs benefited from the contributions of engineers, physicists, chemists, computer scientists, and mathematicians, working together in multi-disciplinary teams. Thus, with the infrastructure in place and with a particular interest in the ultimate results, the Department of Energy, in 1986, was the first federal agency to announce and to fund an initiative designed to pursue a detailed understanding of the human genome.
Of course, interest was not restricted to the DOE. Workshops had also been sponsored by the National Institutes of Health, the Cold Spring Harbor Laboratory, and the @Howard @Hughes Medical Institute. In the fall of 1988, the DOE and the NIH signed a memorandum of understanding that laid the foundation for a concerted interagency effort. The basis for this community-wide excitement is not hard to comprehend. The first impulse behind the DOE's commitment was only one of many reasons for coveting a deeper insight into the human genetic script. Defective genes directly account for an estimated 4000 hereditary human diseases -- maladies such as @Huntington disease and cystic fibrosis. In some such cases, a single misplaced letter among three billion can have lethal consequences. One of the most widespread of these afflictions is sickle cell anemia, in which a single base code is altered. For most of us, though, even greater interest focuses on the far more common ailments in which altered genes influence but do not prescribe. Heart disease, many cancers, and some psychiatric disorders, for example, can emerge from complicated interplays of environmental factors and genetic misinformation.
