Previously Reported Genomic Epilepsy Test Results for Pediatric Patients

Drs. Jason Park and Jeff SoRelle

A team of researchers at UT Southwestern Medical Center including Jeff SoRelle, M.D., and Jason Park, M.D., Ph.D., from the Department of Pathology have reported the “Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients” in the journal JAMA Pediatrics (SoRelle JA, Thodeson DM, Arnold S, Gotway G, Park JY. JAMA Pediatr).

The study, published online on November 5, identified the frequency of changes in genomic test interpretations in pediatric patients with epilepsy. In a 5-year review of results from over 300 patients, over a third of patients had genetic variants with changed interpretations. A clinically significant change occurred in 31 percent of patients. This study emphasizes the importance of periodic review of previously interpreted genetic variants to keep pace with new advances in medical knowledge. This study also provides important evidence for genetic diagnostic labs to consider when making their policies for variant reinterpretation.

Other authors of the study include Dr. Drew Thodeson, Assistant Professor of Neurology & Neurotherapeutics and Pediatrics; Dr. Susan Arnold, Professor of Neurology & Neurotherapeutics and Pediatrics; and Dr. Garrett Gotway, Assistant Professor of Pediatrics and Internal Medicine with the Eugene McDermott Center for Human Growth and Development.

This study has been discussed in the November 6 issue of the Dallas Morning News.