Genetic Diseases: easier to diagnose than to cureby Irma S. Jarcho
Speaking at the banquet of the Annual Convention of the National Association of Biology Teachers held in Charlotte, NC, 17-20 October 1996, Francis S. Collins, Director of the National Center for Human Genome Research of the National Institutes of Health, recounted how the Genome Project has excited the public because of the medical consequences of its work. Almost all diseases have a genetic component, he observed. Though the average chromosome has 2000 to 200,000 genes, a mutation in only one base pair on a gene is capable of causing disease. Some 1% of Caucasians are immune to AIDS and we don't know why.
As Dr. Collins pointed out, genome sequencing is done by machines now, and the Project hopes to have sequenced 100 million base pairs in humans by the end of 1997. Given these advances, there is no doubt that genetic screening, the science of probing human genes for abnormalities raises profound implications for health care in the future. Ethical concerns have been integral to the Genome Project since it started, when a certain proportion of the research funds were set aside to insure that ethical con siderations were addressed.
But even though medicine has developed a good ability to diagnose some genetic diseases, Dr. Collins went on, the ability to cure them is poor. In the case of breast cancer, for example, 90% of cancers occur spontaneously but some 10% are due to a mut ated gene. How does this knowledge help the woman who is carrying the gene? As Dr. Collins quoted from Sophocles, "It is but sorrow to be wise when wisdom profits not." At present this applies to most genetic diseases.
Dr. Collins accompanied his talk with a video on the Genome Project which is available to any teacher faxing a request to (301)-402-2218. (Although the one I have is excellent, its primary appeal will be to younger audiences -- my juniors and seniors were bored with it.)
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