Sema4 announces results of new study on mitochondrial diseases in newborns

Sema4 announced the results of a new study on mitochondrial diseases in newborns. The findings support the addition of mitochondrial DNA testing to rapid exome sequencing, showing it can lead to earlier diagnoses and more immediate potential changes in clinical management. The research evaluates the incidence of mitochondrial disease caused by both nuclear DNA and mtDNA in 966 infants in the NICU who received both rapid exome sequencing and mtDNA sequencing and deletion testing concurrently. In the study conducted by Sema4 GeneDx, nearly 10% of infants referred for exome sequencing plus mtDNA testing were diagnosed with a mitochondrial disorder, accounting for 29% of the overall diagnostic cases. 1.3% of diagnoses were made via mtDNA testing. "Our study shows that including both rapid exome sequencing and mt-DNA sequencing in the NICU will increase the diagnostic yield for many infants," said Dr. Paul Kruszka, Chief Medical Officer of GeneDx at Sema4. "Mitochondrial disease is difficult to diagnose as it can affect many different parts of the body and clinicians may not be looking for it in the NICU. Although there is no cure for mitochondrial disease, earlier diagnoses can lead to a more immediate change in medical management and significantly reduce the diagnostic odyssey for critically ill pediatric patients."