Abstract
Purpose:It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases.Methods:Novel methodology was developed using a carefully constructed set of diagnostic codes, a selection of rare disease cohorts from hospital administrative data, and advanced data-linkage technologies. Outcomes included health-service use and hospital admission costs.Results:In 2010, cohort members who were alive represented approximately 2.0% of the Western Australian population. The cohort accounted for 4.6% of people discharged from hospital and 9.9% of hospital discharges, and it had a greater average length of stay than the general population. The total cost of hospital discharges for the cohort represented 10.5% of 2010 state inpatient hospital costs.Conclusions:This population-based cohort study provides strong new evidence of a marked disparity between the proportion of the population with rare diseases and their combined health-system costs. The methodology will inform future rare-disease studies, and the evidence will guide government strategies for managing the service needs of people living with rare diseases.Genet Med advance online publication 22 September 2016
Highlights
Rare diseases (RD) are a disparate group of disorders that can affect any body system
Because the cohort for the study was to be selected from the Western Australia (WA) Hospital Morbidity Data Collection (HMDC),[15] we used information from this data collection to assist with the creation of the RD resource set
“back translation” to Orpha codes was undertaken to ensure that the International Classification of Diseases (ICD)-10-AM codes described the same diseases as those captured by the Orpha codes
Summary
Rare diseases (RD) are a disparate group of disorders that can affect any body system. It has been argued that RD should be recognized as a public health priority.[2,3] It is commonly quoted that, combined, RD affect 6–8% of the population; there are limited data supporting this figure.[4] the true burden of RD is difficult to estimate. This has resulted in a lack of recognition of the importance of RD for health-care planning and resource allocation.[5] To date, only a few population-level studies of the impact of RD have been published. One such recent study of a population-based registry in Italy found that RD are responsible for nearly twice as many years of life lost in the population as diabetes.[6]
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