1986 - 1990
Launching the effort to sequence the human genome
A coordinated effort to sequence the human genome was conceived and discussed during the mid-1980s, as it was becoming technically achievable. Biotechnology's impressive outlook gave rise to the goal of decoding, base-by-base, the entire complement of human DNA. Genetics research had made it clear to manythough not everyone agreedthat systematic analysis of the fine structure of DNA could empower biological investigation and held exceptional promise for medicine and pharmacology. In the United States, the government-funded Human Genome Project was launched in 1990.
Visions and prospects for sequencing the genome originated independently beginning in 1985. That year Robert Sinsheimer, chancellor at the University of California, Santa Cruz, convened a meeting to brainstorm the idea. In an influential editorial in Science in March 1986, Nobel laureate Renato Dulbecco discussed the potential of whole-genome sequencing for cancer research. About the same time, Charles DeLisi held a workshop to consider the plausibility of a concerted "crash program" to decode the human genome. As head of the office of Health and Environmental Research at the Department of Energy (DOE), DeLisi proposed and soon sought funding for the first stage of such a project.
A debate emerged from these and other discussions over the next two years. Support from the highest echelons of the scientific community led to congressional involvement and gained momentum at the National Institutes of Health (NIH). But early enthusiasm was counterbalanced by considerable disagreement. Critics questioned the usefulness of genomic sequencing, objected to the high cost, and suggested it might divert funds from other, more basic research. Genes, in human DNA, are like small pearls of information interspersed with long stretches of base pairs with no known function, sometimes called "junk DNA." The relative importance of sequencing the entire genome was not immediately apparent to all.
However, progress in medical diagnosis and hopes for new treatment through research in genetics lent the project great appeal, while improvements in DNA technologynotably, invention of automated sequencingmade it a plausible aim. In 1987 came a favorable report from the National Research Council (NRC), of the National Academy of Sciences, from a committee that included former skeptics. Rather than a "crash program," the NRC suggested a long-term, government-supported effort with specific developmental milestones. Although sequencing the genome remained the goal, the report underscored the significance of developing genetic and physical maps of the genome, and the importance of comparing the human genome with those of other species. It also suggested a preliminary focus on improving current technology.
At the request of the U. S. Congress, the Office of Technology Assessment (OTA) also studied the issue, and issued a document in 1987within days of the NRC reportthat was similarly supportive. The OTA report discussed, in addition to scientific issues, social and ethical implications of a genome program together with problems of managing funding, negotiating policy and coordinating research efforts.
From these reports emerged a growing consensus, support in Congress, and a nascent bureaucracy. While the Department of Energy continued steps on its own, movement toward a genome project gathered momentum at the National Institutes of Health, where a budget was established in 1988. That year the two agencies signed a memorandum to avoid duplication of effort.
Genome projects were also discussed and developed in other countries. Sequencing efforts were beginning in Japan, France, Italy, the United Kingdom, and Canada. Even as the Soviet Union collapsed, a genome project survived as part of the Russian science program. The scale of the venture and the manageable prospect for pooling data via computer made sequencing the human genome an international initiative. A privately-funded Human Genome Organization (HUGO) was founded in 1988 to coordinate international efforts and serve as a clearinghouse for data.
What became known as the Human Genome Project started in October 1990, soon after the NIH established the National Center for Human Genome Research. An initial goal included work to improve the genetic linkage map of the human species by locating specific genes to their relative positions on the chromosomes. A more ambitious goal was a "physical map" of the genome that provided positions for the known genes and other identifiable landmarks, measured in numbers of base pairs. Sequencing the three billion base pairs of the human genome was planned as the final step. Early forecasts suggested the entire project would take fifteen years, to finish in 2005, at a cost of about $3 billion.
For current news visit GNN’s Human Genome Page.