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Mapping of human genome sequence to be nearly complete by 2000

June 11, 1999
Web posted at: 3:51 PM EDT (1951 GMT)

In this story:

Implications for research

How people will use it

Public or private


By Hacsi Horvath

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.

Implications for research

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.

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."

How people will use it

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.

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.

Public or private

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.

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."

Copyright 1999 by WebMD, Inc. All rights reserved.

Human Gene Research

The Human Genome Project
National Human Genome Research Institute
National Center for Biotechnology Information
American Medical Association
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