Cost analysis of hospitalized children suspected of rare genetic diseases

Conventional genetic tests (CGT) are currently employed in Canada to investigate rare genetic disorders (RGD) but costs related to their use have been scarcely examined. We aimed to estimate the total hospital costs for children suspected of having rare genetic diseases. This was a retrospective study based on the patients’ medical records. The analysis adopted the hospital’s perspective and the total hospitalization cost was assessed using an inhospital cost database, which included direct costs (e.g., lab tests, drugs), and indirect costs (e.g., hospital overheads). We provide mean costs with 95% confidence intervals obtained with bootstrap analyses. Data from a total of 223 children were analyzed. Mean age was 3.0 years and 119 (53.4%) were male. The average length of hospital stay was 42 days. The mean hospitalization cost per patient in the CGT cohort was $170,337 (95% CI. 128,231 − 219,277). The cost for newborns (0–30 days), $219,498 (95% CI. 144,061–312,395), was higher than for other age categories (p = 0.0914). Hospitalization costs for the CGT cohort were substantially greater than hospitalization costs for the general pediatric population. Subgroup analyses revealed that newborns investigated with CGT were the most expensive among all pediatric cases.