New Guidelines for Genetic Testing in Children

Should worried parents be able to test their babies for diseases they may develop down the road, just because they’re curious? Should worried teens be able to screen themselves, without parental knowledge, for disorders that may manifest decades in their future? And what about delving into your kids’ DNA on your own, with the help of direct-to-consumer testing?

These are some of the difficult issues addressed by a new statement on genetic testing in children issued by the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG).

The joint statement - a first for the two groups - acknowledges that genetic testing is evolving so rapidly that physicians need guidance navigating what can be an ethical, legal and social thicket. The guidelines are not binding, but rather recommendations for how physicians should ideally proceed as genetic testing grows increasingly more complex.

“Genetics is changing rapidly before our eyes,” says Dr. Lainie Friedman Ross, a professor of pediatrics and clinical ethics at the University of Chicago and the statement’s lead author. “From a general pediatrician’s perspective, it’s really important we start thinking about this.”

The agencies' policies were long due for an update. The ACMG last issued a statement in 1995; the AAP came out with one in 2001. The current guidelines appear in two versions - the journal Pediatrics contains the policy statement, while Genetics in Medicine includes a technical report that delves into the framework of the recommendations and outlines the arguments behind the policy. "This very thoughtfully lays out the benefits of testing but also some of the risks inherent in testing so that health-care providers and parents and patients understand the ramifications and know when it's useful and when it may not be so useful," says Dr. Mira Irons, associate chief of the division of genetics at Boston Children's Hospital.

Nearly all parents encounter genetic testing as soon as they welcome a child into the world. All states perform newborn screening, mostly to detect genetic diseases so that treatment can begin as early as possible. The screening is mandatory, but as is the case with immunization, parents may opt out. Yet many don't even realize their infant is being tested, so the new statement emphasizes the importance of asking parents if they want the testing. "This might take a little bit more time, but I believe parents will make the right decisions," says Ross. In Maryland, which previously asked parents for consent, less than 0.1% of parents declined. "If they refuse, we need to educate and reeducate."

But what about parents who decide they want to test their kids just to know more about their children's genetic predispositions? Curiosity alone is not enough reason for a physician to order a genetic test, according to the statement. Testing should be reserved to diagnose conditions and to pave the way for possible treatments. "We are not doing it just because parents have a right to do it," says Ross. "The only reason we should recommend testing is because it would serve the medical best interests of the child."