CONTACT: Patricia Harris
283 Medical Laboratories
Iowa City IA 52242
UI nursing professor: Pros and cons of genetic testing need to be
IOWA CITY, Iowa -- In an era when disease-causing genes are being discovered
continuously, genetic testing can be a useful tool when trying to find
out if someone carries a disease-linked gene. However, a University of
Iowa nursing professor says that the consequences of such a test and its
results should be carefully considered by patients and health care providers
before a test is administered.
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
"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
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 - an ailment in which an abnormal accumulation
of lipids in the brain leads to blindness, mental retardation and death
in infancy - 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
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
"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
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 - 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 tests) 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.