Human Genome Project Milestones Celebrated at White House

By:Aaron Hall

Clinton Calls Working Draft "Starting Point for Even Greater Discoveries"

L-R: Venter, Patrinos, Collins

Craig Venter (head of Celera Genomics), Ari Patrinos (director of DOE Human Genome Program and Biological and Environmental Research Program), and Francis Collins (director, NIH National Human Genome Research Institute).

On June 26, Human Genome Project (HGP) leaders and representatives from the private company Celera Genomics joined President Bill Clinton at the White House to announce the completion of a working draft reference DNA sequence of the human genome. Clinton observed that the working draft is a starting point for even greater discoveries. This achievement provides scientists worldwide with a virtual road map to an estimated 95% of all genes. All HGP data are available on the Internet, and publication in Science and Nature is expected early in 2001.

The draft contains gaps and errors, but it provides a valuable scaffold for generating the high-quality reference genome sequence--the ultimate HGP goal expected to be achieved by 2003 or sooner. This knowledge will speed the understanding of how genetics influences disease development, aid scientists looking for genes associated with particular diseases, and contribute to the discovery of new treatments.

Ari Patrinos, head of the DOE Human Genome Program, led a series of meetings this year at his home that resulted in the joint announcement and agreement by the public- and private-sector projects to publish at the same time.

Speaking of the value of genome data and technologies, Patrinos said, "We are eager to offer a future to our children and grandchildren in which cancer will be only a constellation in the sky."

"Researchers in a few years will have trouble imagining how we studied human biology without genome sequence in front of us," said Francis Collins, head of the NIH genome program.

More than $3 billion has been spent worldwide on the Human Genome Project since its formal inception in 1990.

Although 16 institutions participate in the HGP, most sequencing takes place at 5 locations. These are the DOE Joint Genome Institute, Washington University (St. Louis), Sanger Centre (U.K.), Baylor College of Medicine, and Whitehead Institute. Bioinformatics teams at the Ensembl database project and the University of California, Santa Cruz, generated an ordered view of the 400,000 sequenced DNA fragments in the working draft.

In July, the Wellcome Trust (U.K.) announced a 5-year investment in Ensembl of more than $14 million (Ł8.8 million) for automatic annotation of human genome data, including identification of genes and other biologically important sequence features.

Lowering Public, Private Costs

The projects early phase was characterized by efforts to generate the biological, instrumentational, and computational resources necessary for efficient production-scale DNA sequencing. Pilot studies on large-scale sequencing began in 1996, and successes led to a ramp up in 1998.

In 1999, international HGP leaders set the accelerated goal of completing a rough draft of all 24 human chromosomes a year ahead of schedule. This ever-increasing pace was facilitated by the commercialization of a new generation of automated capillary DNA sequencing machines and by BACs (DNA fragments) pioneered in DOE-sponsored projects. Researchers in both the public and private sectors use BACs to speed their sequencing procedures. The extraordinary achievements of the HGP stand as a testimony to the successful collaborations among scientists intent on overcoming massive technological challenges to move toward the common goal of understanding life at its most basic level.

The situation today is well captured by the words of Winston Churchill, who said in November 1942, after 3 years of war, "Now this is not the end. It is not even the beginning of the end. But it is, perhaps, the end of the beginning."

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