Diagnosis Through Whole Genome Sequencing and Care Utilization in Children With Severe Illness

In this cohort study, a WGS diagnosis was associated with the integration of specialist care and the alignment of health care resources to support specific needs of children with complex disorders. These findings suggest that while longitudinal health care utilization remains intensive following a genetic diagnosis, identifying these conditions is important for accurately mapping and managing the downstream clinical resource requirements of this population.

Corresponding Author: David H. Rowitch, MD, PhD, Department of Paediatrics (drh25@cam.ac.uk), and Catherine E Aiken, MB, BCh, PhD, Department of Obstetrics and Gynaecology (cema2@medschl.cam.ac.uk), University of Cambridge, School of Clinical Medicine, Cambridge CB2 0SW, United Kingdom.

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