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Cystic Fibrosis Tests Urged for Prospective Parents

New York Times Syndicate

By Richard Saltus

Wednesday, March 21, 2001

Catching many in the medical world by surprise, a professional genetics group said Monday that routine testing for the gene that causes cystic fibrosis will, and should be, offered beginning this year to all couples planning children.

The statement from the American College of Medical Genetics said the group had established guidelines for ``the first nationwide CF screening program.''

But another professional group, the American College of Obstetrics and Gynecology, whose members would be the ones to offer the test, said it would not comment. And a spokesman denied a report that the obstetrics group would be announcing the program in April.

In Boston, Dr. Craig Gerard, a CF specialist at Children's Hospital, said, ``It's very controversial. This has been brewing for a while.''

The medical genetics college, an organization that represents genetics services providers and researchers, said in a statement, ``Nationwide CF screening is expected to commence later this year, taking place mainly in obstetricians' offices and prenatal care clinics.''

Michael Watson, the executive director of the medical genetics group, said in an interview that screening of potential parents had been recommended by a committee that met in a National Institutes of Health Consensus Conference.

And Watson said that the federal Centers for Disease Control and Prevention has been putting together ``educational material to be put on tables in waiting rooms.''

The confusion follows years of debate about widespread screening to identify individuals who carry the gene for CF, which is the most common lethal inherited disease among Caucasians.

About 1 in 25 Caucasians carry one copy of the gene and are not affected but can pass the gene on. Only if two carriers have a child is there a risk, a 1-in-4 chance, that that baby will inherit two CF genes and will have the disease.

Most parents don't know they are carriers until they have an affected child. About 1 in 2,500 live births is a CF baby. The disease causes thick mucus to clog the lungs and children may have severe coughing, frequent infections and periodic hospitalizations, and some youngsters die in their early years.

Up to now, most CF experts and groups have opposed screening of the population at large. And some still do not think it is wise to test couples routinely unless they have reason to think they might have the gene.

Gerard said widespread CF testing is not cost-effective unless it is limited to people who have a family history of the disease, or who have already had a child with cystic fibrosis.

``My own feeling is that carrier testing in the kindred of affected families is worth it, and I recommend it,'' he said.

Gerard added that because treatment of CF has improved survival rates, there is decreasing interest among people at risk of passing on the gene.

``I would have to say that with the average life expectancy being almost 30 years old, it is not in the same league'' as more devastating diseases like Tay-Sachs, which kills infants, said Gerard.

``It's a terribly expensive test for something that people don't uniformly'' agree they would choose to prevent, he added.

The CF gene, which was cloned about 10 years ago, is found less frequently among Hispanics, African Americans and Asians than among Caucasians.

The defective CF gene can take hundreds of forms, some more common than others. This complicates testing. The medical genetics college said that couples should be screened with a test that identifies the 25 most frequently occurring CF mutations.

If both members of a couple carry the CF gene, they have a number of options. They can go ahead and accept a 1-in-4 risk of having an affected child, or they can choose not to have children. They can also opt for prenatal testing, and terminate an affected pregnancy. Some couples have undergone ``preimplantation genetic diagnosis'' in which conception is carried out by in vitro fertilization, and only unaffected embryos are put back in the woman's uterus.

(The Boston Globe Web site is at http://www.boston.com/globe/)

c.2001 The Boston Globe

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Last updated: 21 March 2001