Groups representing paediatricians and geneticists issued
new recommendations on Thursday to provide doctors with guidance about when to
test a child's DNA for genetic conditions.
The recommendations are the first collaboration between the
American Academy of Paediatrics and the American College of Medical Genetics
and Genomics. Neither organisation has issued guidelines for genetic testing of
kids in over a decade, according to one of the study's lead authors.
"What we're trying to show is a unified and consistent
message about genetic testing in children," said Dr Lainie Friedman Ross,
the Carolyn and Matthew Bucksbaum Professor of Clinical Ethics at the
University of Chicago."The first thing is what hasn't changed and the most
important thing is (that) what is best for the child should be front and center
for everything in paediatrics," Ross said.
Every child should
That includes offering every parent the opportunity to
screen their newborn children for treatable genetic conditions - such as
sickle-cell disease, which can lead to chronic health problems as well as fatal
sickle-cell "crises."Newborn screening "shouldn't just be
offered. It should be strongly encouraged, because the benefits far outweigh
the risks," Ross said.
Testing children for diseases that don't affect people until
adulthood, however, should be discouraged unless a childhood treatment may
decrease the risk of complications or death, according to the experts. For
example, the new policy would recommend against girls being screened for the
BRCA1 and BRCA2 gene mutations, which put adult women at a higher risk for
breast and ovarian cancer.
600 women decided to
remove their breasts and ovaries
About one in 600 women in the US carry the mutations, and
those women may decide to have their breasts and ovaries removed later in life.
There is no reason to test babies or children for those types of mutations
because the results would not change how doctors treat the child, according to
"That's something you get pretty universal agreement on
from the geneticist side, to not test children for adult onset
conditions," said Dr David Sweetser, chief of medical genetics at
MassGeneral Hospital for Children in Boston.
"Giving that kind of information makes us all uneasy -
especially if it's something you can't do anything about it, or if it's a test
that's not 100% accurate," added Sweetser, who was not involved
with the new recommendations.
But the experts agreed that an exception can be made if it
will relieve the emotional burden of not knowing whether or not the child has a
condition."Our feeling is, we should educate them and counsel them against
it, but if they tell us its overwhelming.... We should respect that," Ross
The guideline authors urge that adopted children should be
treated just like biological children in situations where testing is being
considered. And they discourage the use of at-home genetic tests kits. The
recommendations also address the need for experts to help patients and doctors
understand the results of genetic testing and screening.
Sweetser said that's an important point, because test
results are often more complicated than a simple answer."It's not uncommon
to get a patient transferred to us... to explain what the results are because
the physician wasn't aware they could get such an ambiguous result," he
The experts also said that children being tested as possible
tissue donors should have access to an advocate "or similar
mechanism" to protect the child's interests.
Ross said the current statement does not address genetic
testing or screening for research purposes, or analyzing a child's entire
genome."I thought it was a well thought out policy statement.
It does have some clear recommendations that I agree with.
It's not overly restrictive, and it does allow a bit of latitude," said
Ross added that these are just recommendations, and they are
not requirements."These are guidelines, neither organisation is telling
people how to practice medicine, but they're important (recommendations)
because they combine the knowledge of pediatricians, geneticists and ethicists,"
she said. The recommendations were published simultaneously in the journals Paediatrics
and Genetics in Medicine.