For many parents who face a family history of devestating genetic diseases, the question of whether their child is at risk, and his or her chances of getting the disease, may not be far from mind. The rise in popularity of at-home genetic tests suggest some feel the answers to those questions may no longer be a secret.
But many experts say the anxiety that comes along with predictive test and no definitive results does more harm than good. That’s why a new policy statement by the American Academy of Pediatrics and the American College of Medical Genetics aims to put the brakes on testing children used to identify genetically inherited childhood diseases and diseases that can occur when they become adults.
Physicians should discourage testing in children for adult onset genetic disease, especially if there is no treatment to give during childhood to prevent the disease, according to the new policy statement released Thursday.
“In that case, there’s nothing the person can do differently until they are an adult,” said Dr. Lainie Ross, the Carolyn and Matthew Bucksbaum professor of clinical ethics at the University of Chicago and lead author of the accompanying report published Thursday in the journal Genetics in Medicine.
The statement is the first time both organizations have teamed together. The last time the American Academy of Pediatrics released a statement on genetic testing was in 2001.
Because screening tests don’t provide definitive answers, for some families, the findings may lead to anxiety and more questions, said Ross.
“With genetics, we’ve come to learn that it’s complicated, and people have different reactions to it,” she said. “Some families need to live with the ambiguity.”
Within the first few days of life, nearly every newborn undergoes screening for certain genetic disorders. From then on, physicians don’t regularly offer genetic testing for children. But with the rise of new tests and new ways to identify genetic disorders, the number of families opting for genetic testing has dramatically increased.
At-home genetic tests such as 23 and Me pose the largest concern since people who take those tests are often not counseled by genetic experts, Ross said.
Only children at risk for a genetic disorder should be tested for the disease, but not without parental consent, according to the new guidelines. The organization discouraged testing for diseases that occur in adulthood, unless the parent and child are counseled by an expert.
In rare cases genetic testing may be an option for children, such as those who may have a disorder that could be treated if caught early. In those cases, parents should be fully informed of the risks and benefits of having their child tested, according to the policy statement.
“From a parent’s perspective, they should view themselves as a partner with the provider in decision making,” said Ross. “There’s a lot of room in these guidelines for parental discretion.”
“These policies are to educate colleagues such as pediatricians and what’s the ethical thing to do,” said Ross, adding that pediatricians, not genetic counselors, are often at the forefront of the conversation with parents and children about genetic testing.
“It’s time for all of us to take on the responsibility to become more genetically fluent,” she said.