Comprehensive Guidance Updated for Genetic Testing in Kids

Updating policies written over the past two decades, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have issued a comprehensive joint statement about genetic testing and screening of newborns and children. The new statement was issued in light of rapid proliferation of genetic testing and rise of new technologies since the initial sequencing of the human genome. The technical report was published Feb. 21 online in Genetics in Medicine to coincide with the online release of the policy statement in Pediatrics on Feb. 21. Regardless of the testing circumstance, the groups emphasize two themes—the best interest of the child and that genetic testing should be offered with genetic counseling, which is acknowledged to be in short supply and will compel better genetics education among other health care providers. In the most straightforward situation, diagnostic genetic testing in symptomatic children is similar to any other medical diagnostic evaluation. However, the groups write “if the medical benefits of a test are uncertain, will not be realized until a later time, or do not clearly outweigh the medical risks, the justification for testing is less compelling.” The statement though, does not entirely rule out predictive […]