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The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
Journal article   Open access   Peer reviewed

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

C.E. Walker, T. Mahede, G. Davis, L.J. Miller, J. Girschik, K. Brameld, W. Sun, A. Rathod, S. Ayme, S.R. Zubrick, …
Genetics in Medicine, Vol.19(5), pp.546-552
2017
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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.

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Collaboration types
Domestic collaboration
International collaboration
Citation topics
1 Clinical & Life Sciences
1.155 Medical Ethics
1.155.1510 Orphan Drugs
Web Of Science research areas
Genetics & Heredity
ESI research areas
Clinical Medicine
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