Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.

Chromosome 22q11.2 deletion manifests a highly variable phenotype. Healthcare institutions are often not optimally designed for children with multispecialty needs and a siloed approach may make it hard to understand the full healthcare utilization by these patients. This study was undertaken to understand the healthcare utilization by these patients. Records on 932 patients from a single institution were examined, anchoring on diagnosis codes and extracting costs and types of visits. Healthcare costs were high for patients and increased costs were associated with low T cells and the presence of a cardiac anomaly. The lifetime costs per individual ranged from negligible to over 20 million dollars. The greater healthcare utilization crossed nearly all types of visits. Healthcare costs are one metric of the great burden complex medical care places on patients and families. Identification of two high utilization subgroups will help to optimize care for these patients. © 2016 Wiley Periodicals, Inc.