September 21, 2024
BANGOR DAILY NEWS (BANGOR, MAINE

Experimental gene screening study to be tested in Maine

SCARBOROUGH — An experiment in which the genes of expectant parents will be examined for defects could serve as a national model, if successful, researchers hope.

The Foundation for Blood Research will examine genetic material from both parents to see if they are at high risk of delivering a child with cystic fibrosis, for which there is no known cure. The yearlong pilot study gets under way next month.

Cystic fibrosis is the most common inherited disease among whites. It makes mucus-producing glands overactive, making children’s lungs breeding grounds for infections.

The Maine experiment will involve a new, potentially controversial method for testing people for a genetic defect and notifying them of the results. Both parents will be tested, but no individual results will be revealed.

The researchers hope the new approach will simplify the whole prenatal testing process, making all the information about an individual’s genetic vulnerabilities a little less overwhelming.

If two carriers of a cystic fibrosis gene conceive a child together, their child has a 1-in-4 chance of inheriting the genes and developing the disease.

Scientists tracked down the location of the cystic fibrosis gene in September 1989, raising hopes that a test could be developed quickly for use in widespread screening.

So far, researchers have been able to develop a test that identifies 85 percent of the possible defects. That means doctors can tell patients who test positive that they are carriers, but they can’t tell patients who test negative that they definitely are not carriers.

As a result, many couples are left with a level of uncertainty and anxiety about the outcomes of their pregnancies.

The National Institutes of Health and the American Society of Human Genetics have called for small-scale trials of cystic fibrosis screening programs.

The Foundation for Blood Research’s approach is different from any other program in the United States, although a similar trial is being conducted in England.

Parents will not be given their individual test results, but will be told whether as a couple they “screen positive” or “screen negative.”

That approach is designed to protect people from the poor self-image that often comes with being branded a carrier of a serious illness.

The Maine program starts with a woman’s first prenatal visit to her obstetrician-gynecologist. If she has a family history of cystic fibrosis, she and her partner immediately go into genetic counseling.

Cells collected from the inside of the cheek of each parent, if both choose to participate, are examined for the cystic fibrosis gene. A negative test by either parent means the couple is reported to “screen negative.”

A positive result from both parents, showing a 1-in-4 chance of having a baby with cystic fibrosis, can be followed up with amniocentesis. The fetal test can reveal whether a child will have the disease with virtual 100 percent accuracy.

Those couples are the only ones who know for sure the results of their individual tests.

About 60 physicians in the Portland area, Brunswick, Lewiston, Waterville, Bangor, Augusta, Farmington and Presque Isle are participating.

The researchers see the cystic fibrosis program as a first step in helping people catch up with tomorrow’s technology in identifying defective genes.


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