Study Shows Underutilization of Genetic Testing in Pediatric Medicine

A real-world study published in NPJ Genomic Medicine shows that genetic testing is significantly underutilized in pediatric patients. This is in spite of evidence suggesting 9.4% of pediatric patients and 44.7% of critically ill infants show signs of genetic diseases. Testing was only performed for 4-8% of patients with indications for genetic testing.

According to a summary by Illumina, “Low utilization of genetic testing and long lag times are the unfortunate reality for children and their families seeking a diagnosis. Without testing, a diagnosis is often improbable, and without a diagnosis, outcomes cannot be improved. Additionally, we know from numerous published studies that an earlier molecular diagnosis decreases costs overall.”

Find an open-access copy of the publication by clicking here.

(Source: Illumina, December 7^th, 2021)