Costs of the diagnostic odyssey in children with inherited leukodystrophies

Abstract

Objectives: Our objective was to determine the extent of testing and costs solely related to diagnosis (the diagnostic odyssey) in a cohort of children with inherited leukodystrophies.

Methods: We determined all inpatient and outpatient laboratory testing, including brain MRIs obtained for the purpose of diagnosis, over an 8-year time period in a retrospective population cohort of children with inherited leukodystrophies. Costs were determined from an activity-based cost accounting system and were standardized to 2013 constant US dollars.

Results: Each patient had on average 20 tests (range 2-42 tests), with costs of $4,200 (range $357-$15,611). Diagnostic yield plateaued after 25 tests, and costs increased significantly after 32 tests. Fifty-three percent of patients were diagnosed in 20 or fewer tests, compared with 17% if more than 20 tests were performed.

Conclusions: Our findings provide details on the amount and costs of testing in children who often undergo a diagnostic odyssey. Our results suggest that diagnostic testing is a relatively modest contributor to the overall health care costs in patients with leukodystrophy, and offer insights into the diagnostic odyssey of children with neurologic impairment.

Figure. Costs, testing, and diagnosis in the diagnostic odyssey

(A) Average costs per patient based on number of tests ordered (hash), arranged by number of tests obtained (x-axis), and cumulative percentage of patients diagnosed (circles). (B) Number of patients (y-axis) viewed by number of tests obtained (x-axis); green bar indicates number of patients with a final diagnosis.