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ACMG, AAP Statement on Genetic Testing in Children Highlights Need for Education, Parent Involvement

NEW YORK (GenomeWeb News) – The American College of Medical Genetics and Genomics and the American Academy of Pediatrics have released a joint policy statement detailing their latest recommendations for how genetic tests and newborn screening should be used in the care of children.

The new recommendations urge better education for healthcare providers about genetic tests and suggest engagement with parents is necessary for children to reap the greatest benefit from genetic tests and newborn screening.

The rapid advances of genetic testing technologies that has occurred since the human genome was sequenced have required that decades-old policies covering genetic tests and screening be updated, ACMG and AAP decided, and the new statement is the product of the expertise and input of both groups.

The joint policy statement was published today in the journal Pediatrics, along with an accompanying paper detailing the ethical constructs behind their positions published today in Genetics in Medicine. It replaces each organization's previous recommendations, which were put forth more than a decade ago.

The new recommendations from ACMG and AAP include some specific and philosophical changes that represent their efforts to keep up with the swift march of science and shifting views on parent-doctor relationships.

"The older statements were very worried about psychological risks that might come from [patients having] some types of [genetic] information," Laine Ross, lead author on the papers and professor of pediatrics, medicine, and surgery and associate director for the MacLean Center for Clinical Medical Ethics at the University of Chicago, told GenomeWeb Daily News yesterday.

However, the data that has been collected so far "suggests that families incorporate this information much better than we would have anticipated, and that they use it appropriately," Ross said.

The new recommendations are based around the core idea that genetic testing and screening should be used when they serve the best interests of the child. While it would be best if trained genetic counselors are available to support patients' decision-making, the authors said, education in human genomics and genetic testing should be expanded for medical students, residents, and pediatricians, so that they can provide more knowledgeable counseling to patients.

The new policy expresses ACMG's and AAP's belief that better education for healthcare providers is critical to making genetic tests and newborn screening most useful for children and parents.

"I wish that there were enough genetic counselors to do this, but we all know that there aren't enough genetic counselors," Ross said. "So, there is a need to make sure that all of our healthcare providers really are getting the information that they need. It's going to be pediatricians who are the frontline providers, so it's going to be important that they have training both in medical school and residencies to be able to provide that information."

In another shift from the old policy approach, AAP and ACMG suggest that parents or guardians may authorize predictive genetic tests for children who have no symptoms but who are at risk for childhood-onset diseases, although ideally the consent of the child also would be obtained. But the groups also urge that predictive tests for the risk of adult-onset conditions should be held off, unless there is a useful intervention that could be administered in childhood.

"There used to be a real discouragement of all predictive genetic testing," Ross said. "We're still discouraging predictive genetic testing [for children], but we are now acknowledging that there are two different types of predictive genetic testing," she added, pointing to the difference between adult-onset disorders and those that strike in childhood.

"Testing a two-week old for BRCA, for the breast cancer gene, is totally unnecessary. Nothing can be done clinically, and you're not going to change anything," said Ross. "And in some ways you really want to wait until that child is old enough to understand, so that they can be part of the decision-making process," she said.

"But testing a child for something like Duchenne's muscular dystrophy, which can present early in childhood, before the child really gets to make decisions for him or herself and be part of the decision [is different]. If parents want that information so they can decide about reproductive planning, so they can decide if they buy a three-story house or whether they should live in a ranch, these might be decisions that are appropriate for families to make," she said.

The groups "strongly discourage" the use of direct-to-consumer genetic testing of children, particularly because of the lack of oversight on test content, accuracy, and interpretation. They also argue that the effects of DTC testing on children have not been studied well enough, and that even in adults some DTC tests have provided unfounded genetic predictions and misleading results.

"Understanding the results is complicated," Ross told GWDN. "Deciding whether to get tested is complicated. And it is more complicated when you're not doing it for yourself, but when you're doing it for a child. So the problem with direct-to-consumer testing is that it doesn't require pretest counseling and education to ensure that what you are doing is in the child's best interest.

"We want to make sure that people get the education and counseling necessary to decide if this is in the best interest of their child, and that after they get the results there's somebody to help them understand what it means for the child," she added.

ACMG and AAP also are in favor of the mandatory offering of newborn screening for all children, ideally after the parents have been educated and counseled about the benefits of the screening, the possible risks, and what can be done in the case of a positive result. Though in favor of a mandatory offering, the new policy also affords hesitant parents the chance to turn down such tests.

"It is slightly different from the old statement," said Ross. "In the past, we used to talk about newborn screening being 'mandatory'. We want the parents of every single child being born to be offered newborn screening, and we think there are substantial benefits that outweigh the risks."

However, the new statement acknowledges "that parents are partners in the decision-making."

"What we want is to educate parents and explain to them why we want this testing done. And if they say 'no', the conversation is not done," said Ross. "They need to truly understand what are the benefits and risks. By having the parents involved in the decision-making process, the follow-up care is going to be better because the parents should be informed and know what they should expect in their first few visits to the pediatrician's office."