Genetic tests provided as part of study for kids referred for possible autism

Genetic testing company Invitae providing tests to look for genetic causes of autism for eligible patients at Norton Children’s.

Norton Children’s Medical Group

Norton Children’s pediatrician offices provide quality care close to home, school or work and access to the region’s largest network of pediatric specialists.

Some children referred to Norton Children’s Development Center, affiliated with the UofL School of Medicine, for evaluation of possible autism may be eligible for genetic testing at no cost as part of a research study.

About 200 genes are known to be associated with autism spectrum disorder. Genetic testing can give your health care provider useful information about management of comorbidities in a child with ASD.

“We are trying to see if we can get children into proper services more quickly by offering genetic testing early in their journey,” said Kyle B. Brothers, M.D., Ph.D., chief scientific officer at Norton Children’s Research Institute, affiliated with the UofL School of Medicine.  

If a child is diagnosed at a young age with ASD, support and treatment for comorbidities such as epilepsy or developmental delay are generally more effective than beginning treatment when a child is older.

The genetic testing company Invitae is offering testing for 500 children at no cost to their families. Each child will receive four different tests as part of a pilot study, which continues through 2024.

Genetic testing does not prevent autism or provide a way to eliminate it, but the results allow health care providers an opportunity to manage symptoms through treatments or services, according to Dr. Brothers.

Patients are eligible for the genetic testing if they have had an M-CHAT screening during the 18- or 24-month checkups with their pediatrician and the score indicates referral to Norton Children’s Development Center.

M-CHAT is an ASD-specific screening questionnaire for toddlers and is used to identify children on the autism spectrum, sometimes even before their behavior is concerning to parents or health care providers.

Invitae can use samples of blood or a swab of the inside of the cheek to perform its genetic tests that look for changes in the genes associated with developmental issues.

For example, the Invitae Neurodevelopmental Disorders Panel analyzes 241 genes that are associated with developmental delay, intellectual disability and autism spectrum disorder.

Genetic testing like this may help confirm a clinical diagnosis, predict how a condition will progress and inform genetic counseling.

According to Dr. Brothers, Norton Children’s Research Institute is looking to determine what percentage of children referred for possible autism have a genetic change that would explain why they have autism.

Norton Children’s Development Center offers multidisciplinary evaluations, medication management, therapy, family support and other resources for a wide range of conditions, with consultations across Kentucky. The center also has special clinics for autism spectrum disorder, feeding disorders, learning differences and fragile X syndrome.