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- SAN FRANCISCO (WebMD) -- Ninety percent of "the blueprint
of human beings," the Human Genome Project, will be finished by the
spring of 2000, much earlier than the original goal of 2005, according
to Dr. Francis Collins, director of the National Human Genome Research
Institute at the National Institutes of Health (NIH). Collins spoke on
Thursday at an American Medical Association media briefing in San Francisco.
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- Implications for research
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- The Human Genome Project (HGP), started
in 1990 as a 15-year program, is coordinated by the Department of Energy
and the NIH. Its goal is to identify all of the 80,000 genes in human DNA,
as well as to develop tools to analyze the 3 billion pairs of chemical
bases of which DNA is made. A genome is a map of all the DNA in an organism.
Genetic analysis will enable doctors to screen people for serious diseases
including cancer and heart disease, as well as to diagnose and treat these
conditions.
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- The HGP will also help researchers to
understand why these diseases, as well as conditions as diverse as multiple
sclerosis, schizophrenia and hypertension, affect families in different
ways, and to understand how these conditions might be prevented. "These
discoveries will put us in a position to design individualized programs
of preventive medicine to focus on keeping people well," Collins said.
"People will know what their greatest risk conditions are, and they'll
be able to design their lifestyle and medical surveillance accordingly."
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- How people will use it
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- Collins described a scenario in which
a young man named Joe, visiting his doctor in the year 2005, has some tissue
scraped from the inside of his cheek, to be analyzed for genetically inheritable
health risks. A week later he learns that not only is he at greater-than-average
risk of heart disease -- which he knows, since his father died of a heart
attack in middle age -- but also that he is at greater-than-average risk
for colorectal cancer. With this information, Joe can modify his diet and
lifestyle in ways that may enable him to live longer and in better health.
In addition, he can be prescribed medications that are targeted to work
best for someone with his genetic makeup; many people have genes that make
certain medications work less effectively.
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- There will still be gaps and ambiguities
in the "working draft" of the human genome sequence to be available
next spring, but Collins believes that by the year 2002 or 2003, the genome
sequence will be "highly accurate." It will continue to be made
available to the public through the Internet, though there is debate about
this -- there are some who want the human genome sequence to be controlled
by the private sector, and limited by patents, licenses and secret databases.
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- Public or private
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- In particular, a few of the private corporations
that provided millions of funding dollars to the HGP, in part enabling
it to get so far ahead of schedule, are the same voices calling for the
human genome information to remain within the private sector. The NIH and
the Genome Research Institute, however, say it is important that the data
be publicly available.
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- Once the sequencing part of the HGP is
complete, it will be time to learn how it all works. Collins equated it
with building the periodic table for chemistry. "We'll move into a
new phase where the basic instruction book is in hand, and we will focus
our research efforts on deciphering what it says."
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- Copyright 1999 by WebMD, Inc. All rights
reserved.
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