AAP Issues New Guidelines for Genetic Testing in Children

Genetic testing in children and newborns should not be extensive--at least according to new guidelines released in the journal Pediatrics. The joint statement from the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) says that testing for genetic diseases that strike in adulthood may not be worthwhile.

Currently, about four million infants in the United States undergo newborn screening each year. Further genetic testing, though, is less common. What exactly newborns are screened for also varies from state to state.

According to the new guidelines, each newborn should be tested for the genetic diseases that are included in their state's screening panel. If the parents want further genetic testing, though, the decision is up to them and should be made in the child's best interest.

Yet the biggest change is the distinction between genetic testing for childhood-onset conditions and adult-onset conditions. For newborns that may be at risk for a childhood disease, testing is certainly worth considering. Yet the same does not hold true for a child at risk for adult diseases, according to the new guidelines.

In fact, the report actually does not call for any specific genetic tests. "There is an important role for counseling before and after genetic screening," said one of the authors, Lainie Friedman in an interview with Health Day. "The focus should be on education of families, counseling them and helping them make decisions that focus on the child's best interest."

Most doctors look for genetic diseases in newborns that are treatable and have interventions that will have a significant impact on the child's future. Many genetic tests are open to interpretation, and sometimes find things that never come to fruition or results that can't be fully interpreted. That said, if there is a family history of a genetic disease, testing for it could make a difference in a child's life. This could include certain cancers that, when caught early, could help save the child's life.