Transforming Pediatric Care: The Critical Role of Genetic Testing in Diagnosing Child Health Issues

Paul Kruszka, MD, MPH, FACMG, is the chief medical officer of GeneDx and a clinical geneticist at Children’s National Hospital. He discussed the role of genetic testing in pediatric care.

Kruszka stressed that children with congenital anomalies, global developmental delays, intellectual disabilities, or epilepsy should receive genetic testing. The American College of Medical Genetics recommends exome and genome sequencing as first-tier tests for these conditions since 2021. The American Epilepsy Society also supports the use of these tests for people of any age with unexplained epilepsy.

Rapid genome sequencing is becoming vital in neonatal intensive care units (NICUs). Kruszka mentioned that critically ill children in ICUs should undergo rapid testing. He noted that evidence supports the effectiveness of this approach, stating that it offers high diagnostic yields and is covered by payers.

Kruszka highlighted positive changes in payer coverage, particularly through public programs like Medicaid. He noted that around 40% of children in the US are covered by Medicaid. More than half of GeneDx’s testing is funded through Medicaid, significantly improving access for families.

Receiving a genetic diagnosis can have a profound impact on families. Kruszka explained that knowing the diagnosis can help relieve parents’ feelings of guilt. He emphasized the role of patient advocacy groups in supporting families and sharing information about rare conditions. He pointed out that patients who research their diagnosis often know more than many healthcare providers.

In summary, genetic testing helps end the diagnostic journey for families. It also provides them with essential resources and community support, improving pediatric care.

Kruszka holds the position of chief medical officer at GeneDx. For a deeper understanding of whole genome sequencing in primary care, watch his video interview here.