New Guidelines for Genetic Testing in Children

Date: 
February 25, 2013

The American Academy of Pediatrics issues policy statement on genetic screening of children for autism and other disorders

The decision to perform genetic testing on children should focus on the child's best interest, while also considering implications for family members, according to a new policy statement by the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics.

In explaining the need to issue a statement, the organizations cited recent advances in genetic technology coupled with broad interest in screening children for genes associated with developmental disorders including autism.

“In many instances, genetic testing can guide the diagnosis and even treatment of autism,” says Andy Shih, Ph.D., Autism Speaks senior vice president for scientific affairs. “We at Autism Speaks agree that such testing should always be done with the best interests of the child in mind.”

In April of last year, the biotech company IntegraGen launched a gene test that uses a cheek swab to screen infants and toddlers for 65 genetic markers associated with autism. (Read more here.) Previously, genetic testing for autism had been limited primarily to the identification of rare genetic changes found in only ten percent or so of children with autism. Far more advanced autism genetic testing – including whole genome sequencing – shows promise of moving into clinical medical labs in the coming year.

The AAP’s new policy statement – “Ethical and Policy Issues in Genetic Testing and Screening of Children” – appears in this week’s issue of the journal Pediatrics. Highlights include:

- The decision to offer testing or screening should be based primarily on the best interest of the child.

- Genetic screening should be made available for all newborns. However, parents should have the right to refuse screening after being informed of the benefits and risks.

- Genetic screening can be particularly useful for diagnosing older babies and children with developmental disorders such as autism.