BETHESDA, Md. - The international Human Genome Project (HGP) today announced the successful completion of the pilot phase of sequencing the human genome and the launch of the full-scale effort to sequence all 3 billion letters (referred to as bases) that make up the human DNA instruction book. Based on experience gained from the pilot projects, an international consortium now predicts they will produce at least 90 percent of the human genome sequence in "working draft" form by the spring of 2000, considerably earlier than expected.
"I am extremely pleased that the Human Genome Project has accelerated efforts to complete one of the most important scientific projects in human history - unlocking the secrets of the genetic code. The project will forever change how we understand the human body and disease, leading to improved prevention, treatments and cures for what are currently medical mysteries," said Vice President Al Gore. "Specifically, I am thrilled that we are moving into full-scale sequencing and are on track to complete a working draft of the human genome a year and half ahead of schedule. I want to commend the scientists that have dedicated themselves to moving forward on this project that will improve health care for millions of Americans."
The international consortium currently includes three U.S. laboratories funded by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), the Joint Genome Institute of the U.S. Department of Energy (DOE), and the Sanger Centre supported in the United Kingdom by the Wellcome Trust.
The initiation of the full-scale sequencing effort is based on the success of pilot projects that began three years ago to test new technologies and strategies for sequencing the large and complex human genome. In the pilot phase, eight scientific teams supported by NHGRI, DOE and international collaborators completed the sequence of over 480 million bases, of which 260 million (or close to 10 percent of the human genome) are in high-quality finished form. The finished sequence produced by the pilot projects met or exceeded the international accuracy standard of no more than 1 error in 10,000 bases. In fact, the most recent assessment showed that leading sequencers are ten times more accurate than that, producing fewer than 10 errors for every million bases sequenced. Pilot project participants also drove down the cost of sequencing to an average of 20 to 30 cents per base today.
To kick off the full-scale sequencing phase, the NHGRI and the Wellcome Trust today announced awards to four sequencing groups. NHGRI is awarding new grants totaling $81.6 million to three U.S. academic sequencing groups at the Whitehead Institute in Cambridge, MA; Washington University School of Medicine in St. Louis, MO; and the Baylor College of Medicine in Houston, TX. The Wellcome Trust announced that they are adjusting their funding of the Sanger Centre to make available approximately $77 million (U.S. ) for human DNA sequencing over the next 12 months.
"This joint initiative marks a major expansion of the collaborative spirit of the international sequencing effort, with the goal of completing the sequence of the 3 billion bases of human DNA as soon as possible," said Francis S. Collins, director of the NHGRI.
The consortium's goal is to produce a working draft covering at least 90 percent of human genome sequence within one year. The sequencing strategy involves determination of the sequence from mapped segments of DNA from known locations in the genome. These data are then assembled in overlapping stretches that reflect the accurate orientation of the DNA in the genome. In plans drawn up last fall, Genome Project leaders projected completing the working draft by December 2001. The new consortium goal advances this timetable by more than a year and a half. The working draft will then serve as the scaffold for the painstaking but critical work of finishing, which involves closing gaps and correcting errors, leading to completion of the permanent high-quality, human DNA sequence by 2003 at the latest.
The five largest sequencing laboratories have joined together in a tightly knit collaboration with weekly meetings, shared materials and shared protocols. The NHGRI funded laboratories will be responsible for producing approximately 60 percent of working draft sequence. DOE's Joint Genome Institute and the Sanger Centre will be responsible for producing approximately 10 percent and 33 percent respectively. "As one of the founders of the Human Genome Project, the Department of Energy is gratified to see the launch of the final stage of this project that promises such benefit to humanity," said Under Secretary of Energy Ernest Moniz.
The NHGRI and its international partners are committed to releasing DNA sequence into public databases for free access within 24 hours. The rapid public availability of the sequence will be invaluable to researchers studying the molecular basis of human health and disease. Thus, the information will be available immediately to the vast number of corporate researchers engaged in drug development, as well as academic scientists answering critical questions through basic biomedical research. Michael Morgan, Chief Executive of the Wellcome Trust Genome Campus, said: "Through this major publicly funded effort we can ensure that sequence data remains in the public domain for access by all researchers for the development of future health care treatments. This is crucial for the real medical benefits to be realized efficiently."
The sequencing effort is also designed so it can take advantage of any sequencing work done in the private sector. This may allow completion of the final sequence far sooner than 2003. "The Human Genome Project looks forward enthusiastically to cooperating with all parties that can contribute to more rapid public availability of the human genome sequence," said Collins.
Besides sequencing human DNA, Genome Project researchers are developing new sequencing technologies and conducting studies of human genetic variation, genomic function, and genomic analysis of model organisms. Scientists can use these tools to help them "read" the information coded in the DNA sequence, which will help them understand human illnesses and, ultimately, to find dramatically new treatments and cures. In addition to these goals, the HGP will continue to vigorously support research on the ethical, legal and social implications (ELSI) of genome analysis.
The three new NHGRI awards were based on a peer review process that evaluated the largest of the pilot projects, those that had completed 15 million bases of high quality, finished sequence by December 1998. NHGRI will review additional applications in March and plans to award additional funds for large-scale, human DNA sequence production in May.
Eve Nichols or Seema Kumar
Phone: (617) 258-5183
Washington University School of Medicine in St. Louis
Phone: (314) 286-0119
Baylor College of Medicine
Phone: (713) 798-7971
Department of Energy
Phone: (202) 586-5806
Phone: 44 171 611-8540 (United Kingdom)
Phone: 44 122 383-4244 (United Kingdom)
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Last Reviewed: September 21, 2007