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The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

Walker, C.E., Mahede, T., Davis, G., Miller, L.J., Girschik, J., Brameld, K., Sun, W., Rathod, A., Ayme, S., Zubrick, S.R., Baynam, G.S., Molster, C., Dawkins, H.J.S. and Weeramanthri, T.S. (2017) The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genetics in Medicine, 19 (5). pp. 546-552.

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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.

Item Type: Journal Article
Murdoch Affiliation(s): Institute for Immunology and Infectious Diseases
Publisher: Lippincott Williams & Wilkins
Copyright: © 2017 American College of Medical Genetics and Genomics
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