Genomic Testing Benefits Children With Developmental Disorders

A new study led by researchers from the Center for Pediatric Genomic Medicine at Children’s Mercy-Kansas City proves that genomic diagnostic testing can directly impact the care of children and infants with neurologic disorders.

For their study published in Science Transitional Medicine, the researchers examined 100 families and children affected by neurologic and developmental disorders. A total of 85 families had been seeking a diagnosis for their children for an average of 6.5 years. Additionally, they had spent an average of $19,100 on previous tests that were inconclusive or ineffective.

In the study, 40% of the children received a definitive diagnosis from rapid whole-genome sequencing, and about half of those diagnoses impacted the physician’s impression of the patient’s disorder or treatment plan. As a result, physicians prescribed new medications, discontinued certain treatments, or ran tests for complications associated with the new genetic findings.

"We are striving to realize the benefits of genomic medicine in clinical care," said lead study author Sarah E. Soden in a press release. "These are exciting results that validate the promise of these technologies in children with a broad range of neurologic and developmental disorders.”

The authors noted that aequencing technologies have helped identify known genetic diseases, as well as their previously unreported manifestations.