The International Genome Sequencing Consortium celebrated the "essentially complete" human genome early this week in Bethesda, Maryland, although the sequence itself is due to be formally unveiled in May. Festivities for the finished sequence were designed to coincide, more or less, with the 50th anniversary of the elucidation of the structure of the DNA molecule, and the double-birthday bash became a backslapping Who's Who of the past half-century in molecular genetics.
Francis Collins director of the National Human Genome Research Institute (NHGRI), who helped to open the ceremonies Monday, eschewed comparisons to the creation of the Corvette,
In setting the scene for 2 days of looking back and looking forward, Collins emphasized the importance throughout the genome project of studying ethical, legal, and social issues and of making data immediately available, free of charge, to the scientific community. Speakers throughout the 2-day conference reinforced those ideals as they discussed their work.
First came the history lesson. James Watson and a recorded message from Sir Francis Crick reminisced about the pair's celebrated work, published April 25, 1953. Marshall Nirenberg discussed the early use of cell-free protein synthesis to decipher the genetic code in 1966. Stanley Cohen talked about work leading up to the first DNA cloning experiments with Herbert Boyer in 1963 and about public ruckus over the perceived dangers of genetically engineered bacteria that ensued. Nobel Laureate Phillip Sharp addressed the discovery of RNA splicing in 1975.
Interspersed between talks, segments of an NHGRI-produced documentary, "Deciphering Nature's Alphabet," pieced together other aspects of DNA's early history through interviews. According to an NHGRI spokesperson, the video may be adapted for broadcast by PBS. Robert Sinsheimer, whose role synthesizing DNA in vitro with Arthur Kornberg in 1967 was noted, told
At a press conference later that first day, Collins, the Department of Energy's Aristides Patrinos, and others announced to the press and the world that the human genome was essentially complete, with roughly 400 gaps remaining and one error per 100,000 base pairs. Robert Waterston of Washington University said the sequence is 300 times better than the last time they announced it. Sequence center leaders Eric Lander of the Whitehead Institute and Jane Rogers of the Sanger Center told
David Haussler of the University of California, Santa Cruz, Genome Browser, told
James Watson remembered a press conference held less than 15 years ago, at the start of the Human Genome Project (HGP). His shocker on that occasion was his announcement, without much prior consultation, that 3% of the genome project money should go to studying ethical, legal, and social issues (ELSI). Though he didn't think much about it at the time, he said, it was "probably the smartest thing I did." Calling for the same kind of attention and funding for current ELSI programs, Watson urged perspective, too, when evaluating the issue of genetic discrimination. "The people who suffer, they're already discriminated against by the genes they've got," he said, pushing for rapid and unfettered application of genetic knowledge to human health.
Bioethicist Eric Juengst of Case Western Reserve University applauded Watson's foresight, noting that that the set-aside of funds, now 5% of HGP funding, has led to a better public understanding of the role of genomics in society and brought the country nearer to federal legislation against genetic discrimination by employers or insurance providers.
During the remainder of the symposium, which ran through Tuesday afternoon, scientists charted the course for future discoveries in genomics with relevance to human health. Collins insisted that although human genome sequencing would be largely abandoned, much work would be done to build on the foundation of the human genome.
ENCODE (ENCyclopedia Of DNA Elements), for example, would exhaustively investigate coding and noncoding elements found in 1% of the genome. Haussler told
Another initiative announced this week may yet draw controversy. Collins said he hopes to extend access to small molecule libraries by academic organizations, adding, "The time is ripe for public efforts in the drug development pipeline." Though Collins didn't go into all the details, not everyone agreed that such opportunities will be fruitful. Garrick Peters, president of a Salt Lake City biotech, Xponential Discoveries Inc., told