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Janet Williams, Ph.D., has done extensive research on the psychological and social effects of genetic testing. She says health care providers need to obtain more information about the experiences of people who have genetic tests so they can better prepare themselves and their patients for test result consequences and for future testing. While efforts like the Human Genome Project have identified numerous disease-linked genes, research on the consequences a genetic test can have for patients and their families, especially if the test result is a positive one, has been relatively slow in coming.
"As care providers, we need to be able to help patients through the task of sharing this information with family members, plus deal with the other possible consequences of testing," she says.
Education is key in preparing patients for the possible results of the test, Williams says. A pre-test discussion of the nature of the gene-linked disease being tested for and possible treatment options for that disease is helpful, Williams says. If necessary, patients can also seek post-test counseling to help them deal with the potential traumas that come with genetic testing.
In a study published in the Western Journal of Nursing Research, Williams and colleagues interviewed 34 people who had received results of genetic testing one month previously. Ten of the 34 were found to be carriers of the gene that causes one of four diseases : cystic fibrosis, Duchenne muscular dystrophy, Tay-Sachs Disease ã an ailment in which an abnormal accumulation of lipids in the brain leads to blindness, mental retardation and death in infancy ã or Fragile X Syndrome, considered the most common form of inherited mental retardation. These people were genetic carriers, but they did not have the disease themselves; however, they risked passing the gene to any children they might have.
Carriers and non-carriers reacted differently to the test results, Williams says. The non-carriers expressed relief that they could plan their future, especially involving reproduction, without worry of passing a disease-causing gene to future generations. Carriers, however, expressed a loss of hope of ever having children or grandchildren who would be free of the condition. One person said the result heightened the desire to have children, even though it was no longer possible without risk of passing on the disease-causing gene.
"In carrier testing, this kind of information can be very useful for people in their reproductive planning," she says. "Older people may want to be tested to pass that information along to children they already have."
Both carriers and non-carriers had concerns about disclosure of their test results to family members and to insurance providers, Williams says. Some carriers said they did not want to make their parents feel guilty for possibly having passed on the gene to them. Carriers and non-carriers noted they did not want to create family problems by disclosing their test results.
Insurance poses a two-pronged problem when in comes to genetic testing. First, some providers will not pay for the testing because carriers may not have their health affected themselves ã the gene may not cause disease until later generations. Second, there has been relatively little definitive research done to determine whether carriers of disease-causing genes are less able to attain or keep insurance coverage if their carrier status is revealed to insurance providers.
"The consequences of informing insurance providers (of the results of genetic test) have not been determined," Williams says. "(Testing) sometimes puts people in an awkward situation. They are sometimes fearful of telling their insurance company about the test for fear of paying higher premiums or losing their coverage altogether."
Williams expects these types of issues to gain visibility but she notes that genetic testing and privacy issues are already the source of legislation in the current session of Congress. The latest of no fewer than six bills introduced so far this session comes from Rep. Jim McDermott (D-WA), who introduced the Protection of Privacy for Health Information act in early June. Gene-based discrimination may be a hot-button issue but evidence of its existence is so far mostly anecdotal, Williams says. One recent publication on the topic was in the October 1996 issue of the journal Science, in which about one-quarter of the 332 people interviewed believed they had been denied life insurance because of the presence of genetic disorders in the family. Possibly more significantly, some people who were at risk for genetic conditions refused to be tested because they feared discrimination.
This is not the first work Williams has done on the topic of genetic testing. She recently attended a National Institutes of Health consensus panel on genetic testing for people who may be at risk for cystic fibrosis (CF). Among the panel's recommendations was that couples who may be at risk of being CF carriers seek genetic testing before having children; children will develop CF only if both parents are carriers. The NIH is in the process of publishing the complete findings of the panel.
Information about genetic testing or counseling resources is available by calling the Regional Genetics Consultation Service at 1-800-260-2065 (Iowa and contiguous states) or the UI Hospitals and Clinics Division of Medical Genetics at (319) 356-2674.
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