Reports in "Science" Journal Demonstrate Increasing Value ofGenomic Approaches to Biomedical Research Questions

National Center for Human Genome ResearchEMBARGOED FOR RELEASE, Thursday, Oct. 24, 1996, 4:00 PM Eastern Time, Sharon Durham

In this year's "genome issue," scheduled for October 25, the journal Science will publish a series of reports that demonstrate the increasing value of genomic approaches to biomedical research questions. Three of these, with support from the National Center for Human Genome Research, confirm the reality of once-unimaginable achievements and foreshadow a new way of thinking about and carrying out biological science in the next century. A fourth, a product of NCHGR's Ethical, Legal, and Social Implications research program, warns of possible social injustices that arise when technology development and society meet head on.

A Gene Map of the Human Genome

Over 100 scientists from government, university, and commercial laboratories around the world unveil a map pinpointing the locations of over 16,000 genes in human DNA--about one-fifth of the estimated 80,000 genes packaged within the human chromosomes. The map, constructed largely by scientists at the National Library of Medicine and NCHGR-supported genome centers at the Whitehead Institute and Stanford University, represents the most extensive effort so far to locate and identify the 80,000 genes in the human genome--the full set of genetic instructions inside a human cell. With it, the number of mapped human genes has tripled in less than two years.

This level of detail gives disease-gene hunters who have narrowed their search to a specific region on a chromosome about a 1 in 5 chance the gene they are looking for has already been characterized by this effort, and it gives researchers a ready list of "candidates" for genes involved in human diseases.

Taking full advantage of cutting-edge information technology, the electronic map organizes the details into a readily accessible Internet site (activated at 4 PM Eastern time, October 24th: www.ncbi.nlm.nih.gov/science96/) with extensive links to supporting data about the DNA structure of the genes and the proteins they encode. In addition, the electronic map is a mouse click away from on-line references in the medical and research literature, which will aid scientists in narrowing down the list of candidate genes. The Internet site also provides a powerful teaching tool for students at all levels.

Contact: Kathy Gardner, NLM, (301) 496-6308 Sharon Durham, NCHGR, (301) 402-0911

The New Genomics: Global Views of Biology

By 2005 scientists expect to know the order of all 3 billion DNA building blocks, or bases, that carry the instructions for all the tasks a human body carries out in a day or a lifetime. "The Human Genome Project is best understood as the 20th century's version of the discovery and consolidation of the Periodic Table [of the Elements]," says Eric Lander, director of the human genome center at the Whitehead Institute for Biomedical Research, who explores the significance of this extraordinary new knowledge, proposes scientific and technical goals for future genome studies, and forecasts dramatic consequences for understanding life and curing disease.

The complete DNA sequence--the biologic periodic table-- will make it possible to define a unique 'signature' for every gene, consisting of twenty well-chosen DNA base pairs, Lander says. "Rapidly evolving technologies, comparable to those used in the semi-conductor industry, will allow scientists to build detectors that trace hundreds or thousands of these gene signatures in a single experiment."

Scientists will use the powerful new tools to study cancer initiation and progression, to find the most "common variants" of all human genes (potentially revealing the secrets of disease susceptibility and creating broad new opportunities for preventive medicine), and provide unprecedented information about the origin and migration of human populations.

Lander also calls for increased attention to the ethical, legal, and social issues raised by rapid access to genetic information, and new public education projects for schoolchildren, the general public, physicians and other health care providers.

Contact: Eve Nichols, Whitehead Institute, (617) 258-5183

Assessing Genetic Information with High-Density Arrays

Mark Chee and his colleagues at Affymetrix in Santa Clara, California, have developed an automated method for determining differences as small as one base pair in comparisons of the entire human mitochondrial DNA sequence. Sometimes called the powerhouses of the cell, mitochondria are located outside the nucleus and contain their own set of genetic instructions. Alterations in mitochondrial DNA are responsible for a number of human diseases.

The technique promises to be particularly useful in correlating DNA sequence information from multiple sites within a genome to physical characteristics, including normal human variations and susceptibilities to disease. The group established an array of probes representing the entire 16,000 base-pair mitochondrial genome and then used them to detect slight differences among 10 human volunteers in the DNA's control region and in all 37 genes.

Such arrays provide the foundation for a powerful new genetic analysis technology, Chee says, suggesting that the scaled-up technique could be used to analyze the entire 3 billion base-pair nuclear genome of the human in a single experiment.

Contact: Sharon Durham, NCHGR, (301) 402-0911

Genetic Discrimination: Perspectives of Consumers

While scientists are shedding light on the secrets once buried in the human genome, concerns about how the information will be used outside the laboratory are heating up. In their study of families with inherited disorders, Virginia Lapham of Georgetwon University, and her colleagues, show that discrimination based on genetic make up is at least a perceived threat for such individuals in obtaining health or life insurance and jobs, and may well be real. The study summarizes the experiences of 332 individuals with family members who have a genetic disorder and who are affiliated with support groups. Among the findings, the researchers report that "nearly half (47%) of those who were asked about genetic diseases or disabilities on an application for health insurance were subsequently turned down." While some of the consumers diagnosed with genetic disorders were able to keep their health insurance coverage, others did not even apply for it because they believed knowledge about the genetic condition in the family would result in being turned down.

Contact: Nancy Whelan, Georgetown University, (202) 687-4704

The National Center for Human Genome Research and the National Library of Medicine are components of the National Institutes of Health, the Federal government's principal biomedical research agency, located in Bethesda, Maryland.