Progress, and Applications
of the Human Genome Project
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, September-December 1995; 7(3-4):15
When the genome project formally began in late 1990, available technologies were not nearly efficient or cheap enough to accomplish the goals for mapping, sequencing, and managing and analyzing data. Now, 5 years later, a burgeoning body of resources is providing a new base for a wide range of technology industries involving instrumentation, diagnostics, therapeutics, software and DNA chip development, bioengineering, and agriculture.
Instrumentation, Biological Resources for Future Research
The necessity for large-scale approaches to genome research has pushed technology development toward increasing capacity and decreasing size. Demand for high-throughput DNA sequencing methods, for example, has given rise to gel multiplexing and automated sequence-detection machines and gel readers. A new, multiplexed fluorescence detector for capillary electrophoresis, developed by genome project researchers and licensed this year to the private sector, will form the basis for a new sequencing instrument projected to increase significantly the DNA sequencing rate. Another resource transferred to the private sector this year is a new heat-stable enzyme for replicating DNA that promises to make sequencing faster and more accurate. In September, the "chromosome painting" technology developed by genome project researchers was licensed to a private company that will offer it for disease detection to both the research and clinical communities. The technology is used to detect many chromosomal abnormalities, including Down's syndrome and cancers. Other technology transfer is carried out through software licensing and library distribution.
New Diagnostics, Therapeutics
A government-sponsored plan to accelerate payoffs from genome research is the Tools for DNA Diagnostics component of the Advanced Technology Program, National Institute of Standards and Technology. Funded companies are engaged in such activities as developing diagnostic DNA arrays and adapting fluorescent mapping techniques for analyzing human tissues. Other projects focus on applications of DNA "superchip" technology that have high potential for disease diagnosis and treatment, extremely rapid sequencing, and industrial and environmental monitoring.
Cheap, rapid, and relatively easy-to-use tools for DNA analysis have increased dramatically the number of disease genes isolated during the past few years, providing the raw material for new strategies to diagnose, prevent, and treat disease. Almost 250 gene-derived products are in clinical development, and over 100 companies currently have DNA-based therapies in human clinical trials. Additionally, the top U.S. public biotechnology companies have an estimated 2000 therapeutics in early developmental stages, including monoclonal antibodies, clotting factors, growth factors and hormones, interleukins and interferons, and a variety of other protein or peptide molecules. Since 1988, more than 100 human gene-therapy or gene-transfer protocols have been approved by the NIH Recombinant DNA Advisory Committee.
Clinical tests to detect disease-associated mutations offer powerful new tools for disease identification and management and are proving to be the most immediate commercial applications of gene discovery. These tests, however, also pose several medical and technical challenges. Key questions in determining whether a gene discovery will translate into a clinically useful diagnostic test include the following: How often does the test pick up disease-linked mutations? Are these mutations associated with disease development? Is the disease treatable or preventable? Does testing reduce medical cost or improve quality of life?
The NIH-DOE Joint ELSI Working Group is addressing some of these issues and has recently launched the Task Force on Genetic Testing to perform a comprehensive, 2-year evaluation of the current state of U.S. genetic-testing technologies. The task force will examine safety, accuracy, predictablity, quality assurance, and counseling strategies for the responsible delivery of genetic tests.
Return to the Table of Contents
Return to Home Page
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v7n3).
Last modified: Wednesday, October 29, 2003
Home * Contacts * Disclaimer
Document Use and Credits
Publications and webpages on this site were created by the U.S. Department of Energy Genome Program's Biological and Environmental Research Information System (BERIS). Permission to use these documents is not needed, but please credit the U.S. Department of Energy Genome Programs and provide the website http://genomics.energy.gov. All other materials were provided by third parties and not created by the U.S. Department of Energy. You must contact the person listed in the citation before using those documents.
Base URL: www.ornl.gov/hgmis
Site sponsored by the U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome Program