Tuesday June 5 1:42 PM ET
"Gene Tests Should Be Used with Caution in Kids"
Gene Tests Should Be Used with Caution in Kids
By Keith Mulvihill
NEW YORK (Reuters Health) - Now that scientists have
completed sequencing the human genome, the number of gene tests
is expected to explode--posing some thorny ethical issues,
particularly when it comes to testing infants and children.
To address potential problems, the American Academy of
Pediatrics (AAP) published a statement on Monday about the
proper use of genetic testing of infants and children with an
emphasis on protecting the privacy of this potentially
"The public might be interested in learning that the Human
Genome Project (news - web sites) will result in a large number of new genetic
tests that might be available for use with children," said
co-author of the guidelines, Dr. Jeffrey R. Botkin of the
University of Utah in Salt Lake City, in an interview with
Reuters Health. "We will be able to test for many more
conditions before we have new treatments or preventions
available," Botkin said.
Currently, many genetic tests, such as those routinely used
now in newborn screening or for testing a sick child for a
genetic condition, are relatively uncontroversial. Other kinds
of genetic tests might be used to evaluate children for future
illness or for their own reproductive risk when they are of
childbearing age, Botkin explained. For example, researchers
predict that there will soon be genetic tests to determine risk
of heart disease, diabetes, stroke, hypertension, Alzheimer's
disease (news - web sites), some kinds of colon and breast cancer, psychiatric
conditions and rheumatoid arthritis.
"These kinds of tests are more ethically controversial
because the balance of risks and benefits is uncertain," Botkin
told Reuters Health.
Children could be at risk from such testing due to the
psychological impact of finding out that they are likely to
develop a certain illness in mid- to late-life. What's more,
such tests could have a social impact, resulting in stigma and
discrimination, he explained.
For example, a 16-year-old girl could discover she has a
gene mutation that increases her lifetime risk of breast or
ovarian cancer by 90%, Botkin said.
"How would this information change her self-perception?"
"Might this information lead to difficulty in employment
later, or to challenges with finding a marriage partner, or
change how she might choose to lead her life, perhaps leading
to short-sighted, self-destructive behavior?" he stated.
"No one knows the answers to these questions so, in the
absence of medical options for a 16-year-old woman with a gene
mutation for cancer, the AAP's statement recommends that
this kind of testing generally be delayed until adulthood,"
As for tests that might be helpful in treating conditions
in newborns and young children, the AAP recommends that more
research be conducted on "informed consent" for parents.
Informed consent is the understanding that a person is fully
aware of the risks and benefits of a test or procedure before
choosing to undergo that procedure.
In the case of infants, a parent would need to be fully
informed as to the potential risks and benefits of a genetic
test--such as that for cystic fibrosis--and then have the
option to refuse the testing of their child. Such a test may
reveal that a child is sick and could benefit from early
treatment. However, a test may also reveal that a healthy
newborn is actually a carrier of a genetic disease, although
the mutated gene will never affect the child's health.
Currently, two states--Wyoming and Maryland--require
informed consent for newborn screening, while 13 other states
require that parents be informed about screening before it
takes place. All states except South Dakota permit parents to
refuse screening if they have moral or religious objections to
Some screening tests are routine, such as that for
phenylketonuria, a genetic disorder that can lead to brain
damage without rapid intervention. Others are routinely
conducted only in some states, such as tests for cystic
fibrosis, a genetic disorder in which children have problems
with breathing and digestion due to a build-up of mucus in the
"The key question is whether informed consent would improve
the programs by better educating parents about newborn
screening, or impair the programs by reducing the number of
children who are screened," Botkin noted.
"We believe informed consent may enhance the programs by
encouraging parents to be more active participants in the
screening process," he said.
Botkin stressed that "parents can best educate themselves
by fostering dialogue with their physician."
When making a decision about any kind of testing, the key
questions are: What will I be able to do with the results of
this test and what are the risks of testing, including
psychological and social risks?
"There are many conditions that run in families, and are
known to exist without the need to have genetic testing to
confirm this fact," said lead author Dr. Robert Nelson of the
Children's Hospital of Pennsylvania and chairman of the AAP's
"Unless there is some way to help a child based on the
results of the test, do not have the test," Nelson advised.
If a test confirms a diagnosis that is suspected anyway,
concerns about confidentiality exist about the medical
information regardless of genetic testing, Nelson explained.
"The bottom line is that if you do not plan to do
anything based on the information, do not have the test,"
Nelson told Reuters Health.
SOURCE: Pediatrics 2001;107:1451-1455.
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