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AAP Issues Guidelines on Genetic Screening in Children

Recommendations support testing for all newborns, with limitations (Feb. 21)

Genetic testing and screening of minors is widespread, and testing is done routinely on virtually all newborns.

In the March issue of Pediatrics, published online Feb. 21, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics (ACMG) have issued a joint policy statement regarding updated technologies and new uses of genetic testing and screening.

The AAP and the ACMG support mandatory genetic screening for all newborns. Both organizations feel, however, that parents or guardians should have the right to refuse newborn screening after being informed about the significant benefits and possible risks.

According to the new guidelines, 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. The new guidelines state that, 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 counseling and the consent of the parent and child.

Both the AAP and the ACMG strongly discourage the use of direct-to-consumer and home-kit genetic testing of children because of the lack of oversight on the test’s content, accuracy, and interpretation.

Sources: AAP; February 21, 2013; and Pediatrics; February 21, 2013.

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