In March, about 8,000 members of a Baltimore health maintenance organization will be asked to participate in a three-year federal study that will help to set guidelines and standards for future genetic testing.
Dr. Neil Holtzman, a pediatrician at the Johns Hopkins Medical Institutions, was named yesterday as one of seven researchers to get funding from the National Institutes of Health for the pilot study, which he will conduct at an HMO he declined to name.
The mutated gene that causes cystic fibrosis was discovered two years ago, and tests have been developed to detect mutations of the gene in a small amount of blood. It is a scenario that is likely to be repeated over and over again in the coming years with other genes, now that a $3 billion international project is under way to discover the location and function of all human genes.
Diagnosis is expected to become easier, and doctors hope that more detailed knowledge of what is biologically going wrong will lead to better treatments or prevention of many diseases. But there are a host of ethical, social and moral questions about screening people for diseases and genetic susceptibility, and about who should be allowed to have access to the information.
Scientists have said some restrictions may be needed to guard against misuse of genetic information by employers or insurance companies.
The project to screen for cystic fibrosis will try to define the best methods -- the seven teams will try different ways -- for counseling people who would be tested for the CF gene, protecting confidentiality of test results and minimizing discrimination against those found to be carrying the CF gene, according to the NIH.
Researchers want to find out how many people of reproductive age who are invited to be screened will participate and how they feel about having children or avoiding bearing a child with cystic fibrosis.
The study will also help determine whether testing for carriers of CF should remain focused on members of families known to be at risk or whether it should be opened to the general public.
Both parents must be carriers of a CF gene to pass it on to their child. There is a 1-in-4 chance with each pregnancy that the baby will get both defective genes. The blood test for CF will detect 90 percent of men and 90 percent of women carriers, and therefore will pick up about 80 percent of couples at risk, Dr. Holtzman said.
Cystic fibrosis is one of the most common inherited diseases in the United States, affecting 1 in 2,500 Americans of European ancestry.