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Genes: Do We Want to Know?
As researchers identify disease-causing mutations in genes, we are faced with an unprecedented choice: Do we want to know whether we inherited those mutations?
In 1992, the National Human Genome Research Institute (NHGRI)
launched a program to explore ethical, legal, and social issues
surrounding such testing. The program funded seven groups, including one
at UNC-CH, and the results will help NHGRI formulate a policy statement.
The UNC-CH group, led by James Sorenson, professor of health behavior
and health education, concentrated on relatives of people who have
cystic fibrosis. Close relatives have one chance in four of being
carriers. They will not develop the disease, but their children might.
"We addressed three areas," Sorenson says. "How many people want testing? How do people respond to learning their carrier status? And could we compare the standard clinical approach with a home-based approach?
"We expected the relatives to be interested in knowing their carrier status because their risk is so high," Sorenson says. "We were surprised that only fifty-eight percent accepted."
Some people declined the test because they'd already had their children, he says.
For those who agreed, the test was administered in two ways. Either people met with a genetic counselor at a clinic, where a saliva sample was collected, or they received an educational pamphlet and a kit for the same test in their home.
"We wanted to see if a pamphlet could educate as well as a counselor," Sorenson says. "Home-based testing is much
less expensive, but we didn't know how well people would
respond to it."
The results were encouraging. More people accepted the offer of home-based testing, and they were slightly more satisfied with the process - something Sorenson attributes to the convenience. There was no difference between the two groups' understanding
of the results, and both groups had low levels of anxiety associated with the testing.
However, Sorenson isn't ready to give a blanket endorsement to home-based gene-carrier testing. He emphasizes that all participants spoke on the telephone to a researcher who explained the study, the disease, and carrier testing in some detail. A pamph
let alone might not be as effective, he says.
"Still, our findings suggest it is worthwhile to think about developing home-based approaches for gene testing,"
Sorenson says.
"Our results also show that people can handle knowledge about carrier status intellectually and psychologically. And we've learned that people may not be as interested in their genes as people in this field expect them to be."
-- Elizabeth Zubritsky
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