NEW YORK – Genome sequencing led to new genetic diagnoses for nearly a third of children with unexplained complex medical conditions, a study by researchers in the US and Canada has found.
Children with medical complexity (CMC) have at least one chronic condition, depend on a technological tool like a ventilator or require intravenous nutrition or drugs, are under the care of multiple subspecialists, and have substantial healthcare use. For many of these patients, a genetic cause for disease is suspected but often not found through conventional genetic testing.