Cystic fibrosis pilot projects go begging - CF gene proves uncooperative
Article Abstract:
The gene encoding the protein which is defective in cystic fibrosis (CF) was identified in 1989. The identification of this gene allows for the possibility of widespread screening of the population to detect carriers of the disease. Pilot screening projects have begun in England and Canada to determine the best methods for screening and problems that would occur in testing. As of yet, the United States does not even have plans for pilot programs. It is not known where the money to fund the programs will come from, as neither private nor federal agencies have the necessary money. If the testing of a fetus is positive, the options of the parents would include abortion. The funding agencies do not want to get involved in the controversial issue of abortion. Due to the limited sensitivity of the available test, the defective gene is detected unequivocally in only approximately one-half of the couples who in fact have the gene. It is felt that mass screening should not begin until the test can detect 95 percent of those at risk of having a child with CF. It is not certain that the sensitivity of the test will ever be 95 percent. A common (identical) defect occurs in approximately 70 percent of the individuals who carry the defective gene. But the rest of the carriers with the defective gene have mutations, or genetic changes, in different portions of the gene. More than 60 mutations have already been identified in individuals; some occur in 1 to 3 percent of the carriers, while others have only been found in one individual. This makes mass population screening difficult. Some scientists claim the detection rate is now 80 to 85 percent and may reach up to 90 percent, but it is felt that reaching the 95 percent detection rate in a test that is affordable may not be possible, at least not any time soon. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Science
Subject: Science and technology
ISSN: 0036-8075
Year: 1990
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Genome Project: an experiment in sharing
Article Abstract:
The success of the human genome project depends on the sharing of data and material among scientists. Scientists should make their research material, such as cell lines, DNA probes, and the genes that they have isolated, available to other scientists. But human genetics is a competitive field of science, and the researchers may not voluntarily share resources and results. It has been suggested that the National Institutes of Health and the Department of Energy, the government agencies which are funding the human genome project, should make up rules so that the data and materials are shared. The Department of Energy has formed some guidelines, which state that the data and materials must be available as of six months after they are generated. Some scientists think that the rules are necessary. Others, including James Watson, who is the head of the project, do not want to set rules, but hope that the scientists will form their own rules. Watson says that collaborations are occurring, for example among scientists who are researching chromosome 21, which contains genes for Down syndrome and possibly Alzheimer's disease. Many groups are mapping, or finding the location of the DNA and genes, on this chromosome. The groups got together to pool their data and to discuss which paths should be taken by future research, and they agreed to share their materials. Watson feels that there must be a time limitation on how long an investigator has to examine his data before he must make the data known to the public. Some individuals think three months is a reasonable time period, while others favor a year. A subcommittee of the genome project will meet to discuss guidelines and time limitations. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Science
Subject: Science and technology
ISSN: 0036-8075
Year: 1990
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