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.”
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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.”
Defining “best interests,” however, is tricky, and the latest advice reflects changing views on the role that genetic testing plays in medical care. While the earlier statements from the AAP and ACMG firmly advised against genetic testing in children to determine future risk of disease, the new statement acknowledges that parents are the ultimate decision-makers when it comes to childhood-onset conditions. Predictive genetic testing for adult-onset conditions is still strongly discouraged, but in rare cases, if the parents are in agreement — and, ideally, the child is old enough to concur — testing can be ordered. “If the family truly believes this is what’s best for the child, we need to respect that,” says Ross.
Historically, the medical community has been reluctant to test kids for fear of causing psychological harm: could the knowledge that kids are going to get sick affect family bonding? Would mom and dad treat the affected child differently from his siblings or fall into the trap of the “vulnerable child” syndrome, becoming so nervous about a child’s health that they don’t let him out of their sight? “We still worry about that, but we’ve come to realize to the extent that there are data that the concerns were probably over-hyped,” says Ross.
In fact, in some cases, learning early on about genetic information may prove helpful. Having advance knowledge of a condition such as Duchenne’s muscular dystrophy, which strikes in the preschool years, can allow parents to plan. They may purchase a house with a wheelchair ramp or start searching for clinical trials. Or, if their child tests negative, they can breathe a sigh of relief. “We recognize it can be important to get rid of anxiety in the family,” says Ross. “We know that living with uncertainty is very stressful. Even getting a positive result is sometimes easier to live with than ambiguity.”
When it comes to testing children for diseases they might face as adults — identifying genes for Parkinson’s, say, or breast cancer — the groups strongly discourage testing. If families are insistent even after extensive counseling and education, they should wait until a child is at least a teen and can make an informed decision about getting tested.
Likewise, teens set on testing themselves without telling their parents should be deterred. “Even for adults getting genetic testing, it’s complicated,” says Ross. “It’s best to involve parents because genetic testing is often not just about the child but also about the parents.”
The statement also addresses direct-to-consumer genetic-testing companies such as 23andMe that use a DNA sample to provide consumers with information about genetic mutations and their potential risk for disease. Their advise to parents who might consider sending in their child’s saliva sample? Steer clear. “It’s an unregulated field,” says Ross, who notes that ordering testing in consultation with doctors allows patients to receive more comprehensive information and counseling.
While the statement covers a lot of ground, it avoids weighing in on whole-genome, or next-generation, sequencing, which scans a person’s entire genetic code rather than isolating a single gene or a handful of them. Sequencing is starting to be used to help diagnose children with mysterious illnesses, but “it’s still in flux,” says Ross, who expects that guidelines specifically addressing sequencing will eventually be issued. (Read Time.com’s entire Kids and DNA series on genome sequencing and children.)
Irons, who was not involved with developing the guidelines, says there’s a need for policies in an area that’s expanding so rapidly. “The field is headed toward next-generation sequencing for children with unknown or rare diseases, and more and more children will be offered genetic testing,” she says.