(Bethesda, MD.) - The first annual day of the research institute of the human genome of the national genome last week provided a tempting glimpse in the hopes and dangers of research in our basic building blocks. The director of the NIH Institute, Francis Collins, MD, says WebMD, "Five years from now on, we have discovered the main genetic contributions for common diseases such as diabetes and heart disease and hypertension." He adds: "We will be ready at this point ... to offer individuals genetic predictions about their future health and then the opportunity to develop a preventive medicine program to stay well."
Last month, the White House held a special "Millennium Night" to improve advances - and new problems created by genetics and high technology. President Clinton said, "We all want to live forever, and we are getting there."
but Collins tells WebMD ", in the minds of some people, this is a bit scary. What they are going to do here to create the designer, or modify our own basic biology, the kind of scenery Frankenstein" .
Diet 101 - NIH Genome Institute Hosts 'Genetics 101' Consumer Day
DNA is the material that makes up genes, which, when damaged or mutated, can cause a hereditary disease. Different mutated genes cause different diseases. Genetics involves studying genes, identifying where they are located in chromosomes and diagnosing and treating diseases caused by mutant genes.
The institute is ahead of the schedule in the mapping of the entire human genomic sequence, which includes 80,000 genes between about 3 billion pieces of DNA. It will be 90% completed by the next April, Collins said. Before the end of the year, the Institute will announce that he finished maping the first human chromosome.
How researchers are increasingly determined that genes are involved in certain disorders, they can evaluate individual susceptibility through tests that can identify the presence of mutated genes. Collins highlighted the recent discovery of the mutated gene leading to hemochromatosis, a hereditary disease that affects the liver. A genetic test now gives individuals advance warning of potentially deadly disease.
Collins also reported that a single scientist NIH has recently gained keys in hazardous syndrome, a genetic disorder that causes, among other problems, patients to lose hearing. In less than a year, he said, the researcher was able to identify families with the syndrome, take DNA samples and identify the location of the mutated gene.
More aggressive genetic research, such as genetic therapy, however, is much more controversial.
Genetic therapy is the process of introducing external genetic material in patients' cells to repair a mutated gene. In doing so, the disease caused by the mutated gene can be treated. Therapy has been tested in patients since 1990. In a presentation on Consumer Day, Leroy Walters, PhD, Director of the University of Georgetown Ethics Institute in Washington, emphasized the "fact" that "genetic therapy could be dangerous to some patients." An advisory committee of the NIH It is scheduled to investigate the issue more closely at a meeting next month.
Richard Morgan, PhD, head of the Institute's Gene Transfer Section, tells WebMD that genetic therapy treatments for hemophilia b seem extremely promising. "Judgments have just begun, but from the point of view of technology, it seems that it may be the first treatable genetic disease."
At the same time, Morgan conceded: "We need to have temperament of expectations." He said pilot studies will probably continue before large-scale trials can begin. Several thousands of patients have been experimentally treated with genetic therapy for a wide range of genetic disorders, and are now close to 300 clinical trial protocols on genetic therapy.Looking for the future of research on genes, Collins tells WebMD, "have not yet reached five years have come to travel to the totally effective therapeutic consequences of all this research, except for some conditions. Give us 10 to 15 years and these things will begin to happen. "
A genetic field to watch, he said, is pharmacogenomic - the study of genetic differences that result in variations in drug responses. The findings are "likely to change the prescription standards in the next decade or more."
As scientists - and doctors - more and more look at genetic information for diagnostics and treatment, maintaining this private information will likely become a key issue. While there are federal protections against genetic discrimination by group health insurers, patients in the individual insurance market do not have such protection.
