Genetic testing and screening of minors is widespread, and testing is done routinely on virtually all newborns. A joint statement from the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) has updated clinical guidelines for genetic screening and testing situations affecting children and adolescents. The statement is a response to new technologies, expanded access to genetic testing, and increased public interest in genetics and genomics. Both the AAP and ACMG agree that the best interest of the child should be the principle factor on whether to offer testing and screening. Both the AAP and ACMG support mandatory genetic screening for all newborns. Parents or guardians should have the right to refuse newborn screening after being informed about the significant benefits and improbable risks. Most genetic testing beyond the newborn period is done on children with intellectual disabilities, autism spectrum disorders or multiple anomalies for diagnostic purposes. Genetic testing of older children may increase as data and knowledge expand. The recommendations on predictive testing are now divided into conditions that occur in childhood and those that occur in adulthood. For children at risk of childhood-onset conditions, testing is permitted with parental consent, and when feasible, the child’s assent. Testing for adult-onset conditions is discouraged, but exceptions can be made with appropriate counselling and the consent of the parent and child. Given the rapid advances in genetics and genomics, paediatricians and other health care providers need to stay informed and updated on best practices.
