- Bethesda, MD -- At a meeting this week
of the federal Human Genome Project's main advisory body, project planners
presented a new plan to finish the DNA sequence of the human genome by
the end of year 2003, two years ahead of its original schedule. The plan,
which outlines a wide range of genome research goals for fiscal years 1998-2003,
is the result of an extensive year-and-a-half long process that included
hundreds of scientists. The National Advisory Council for Human Genome
Research will then decide whether to give federal programs the go-ahead
to carry out the plan.
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- "These new goals are ambitious,
even audacious. But the Human Genome Project has never settled for making
safe projections, and that has served us well," said Francis S. Collins,
director of the National Human Genome Research Institute (NHGRI) and chair
of the advisory council. "When we have looked at the facts, considered
the opportunities, and tried to project forward five years, we have always
done better than we thought we could. If there was ever a time to spark
the imagination of the scientific community and the public, it is now."
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- The new plan will be presented to the
advisory council by Collins, Department of Energy (DOE) genome program
director Ari Patrinos, and planning committee chairs Aravinda Chakravarti
and Leroy Walters. Besides goals for human genome sequencing, it also contains
goals for studies of human genetic variation, genomic function, genomic
analysis of model organisms, the ethical, legal, and social implications
(ELSI) of genome research, as well as development of new technologies.
But its boldest language pertains to spelling out the sequence of the 3
billion DNA bases that make up the human genome. Although delivering a
complete human genome sequence has always been the project's ultimate and
most challenging goal, actual production sequencing of human DNA has begun
only recently as technology improvements and cost reductions have made
it feasible. Analysis of sequencing strategies for human DNA over the past
year's planning process led to the new proposal to deliver a complete,
highly accurate, human genome sequence by the end of 2003.
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- "That analysis concluded we could
finish one-third of the human genome sequence and have the rest pretty
far along in 2001," Collins said. In sequencing terms, the word "finish"
refers to stretches of DNA bases that contain no missing letters and that
are spelled accurately. The new plan aims to sequence one-third of the
human genome in this "finished" form in 2001, focusing on regions
known to contain genes or other aspects important to biologists.
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- Meanwhile, sequencers will also be generating
a "working draft" that, together with finished sequence, will
cover at least 90% of the genome in 2001. The working draft will be immediately
valuable to researchers and form the basis for high-quality, finished genome
sequence.
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- "At full scale, that will put the
complete, finished, high-quality human genome sequence within reach in
2003. No one else is doing this," Collins said.
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- According to Patrinos, DOE associate
director for Biological and Environmental Research, "We have as our
primary goal the finished 'Book of Life' by the end of 2003. However, we
also want the working draft to be as useful as possible."
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- The federal genome project strategy will
start with mapped DNA pieces of known location in the genome, so assembling
the sequenced pieces will reflect the accurate orientation of DNA in the
genome. Another key aspect of the new sequencing plan concerns access to
the data. The new plan reiterates the Human Genome Project's position on
release of DNA sequence into public databases for free access within 24
hours. The high quality and wide availability of the sequence will of maximum
benefit to researchers studying the molecular basis of human health and
disease.
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- The Human Genome Project officially began
in 1990 as a 15-year program to characterize in detail the complete set
of genetic instructions of the human and some important laboratory organisms.
NHGRI, at the National Institutes of Health, and the Department of Energy
carry out the effort. Most of the work is done in university research centers
and in national laboratories. From the beginning the project has operated
from a set of carefully established but aggressive research goals. The
first plan covered fiscal years 1991-1995 and included mainly goals for
genetic and physical mapping, computer management of research data, and
research on ELSI issues. Rapid progress and technology advances required
that a second five-year plan be developed in 1993 to cover research through
1998. To date, all of the proposed goals have been met or exceeded. DNA
sequencing goals in the 1993-1998 plan, for example, called for completion
of 80 million bases of DNA mostly from non-human organisms. To date, public
databases contain more than three times that amount: 180 million bases
of human DNA; 80 million bases of DNA from the roundworm; 14 million from
the fruit fly; 12 million from yeast; and, 5 million from the bacterium
E. coli.
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- The 1998-2003 plan contains goals for
new areas of study, including how variations in human DNA sequence among
different populations relate to the development of, or protection from,
disease; new technologies and strategies for studying genetic function
on a whole-genome scale; and new areas of ELSI research, such as identifying
and addressing issues that link genetics to personal identity and racial
or ethnic background, and their implications for philosophical and religious
traditions.
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- The year 2003 is also the 50th anniversary
of the discovery by James Watson and Francis Crick of the double helix
structure of DNA. "There could hardly be a more fitting tribute to
this momentous event in biology than the completion of the first human
genome sequence in this anniversary year," the plans says. Watson
was also the first director of the Human Genome Project at the National
Institutes of Health from 1989 to 1992.
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