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

Caroline E Walker, Trinity Mahede, Geoff Davis, Laura J Miller, Jennifer Girschik, Kate Brameld, Wenxing Sun, Ana Rath, Ségolène Aymé, Stephen R Zubrick, Gareth S Baynam, Caron Molster, Hugh Dawkins, Tarun S Weeramanthri

Research output: Contribution to journalArticlepeer-review

74 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)546-552
Number of pages7
JournalGenetics in Medicine
Issue number5
Publication statusPublished - May 2017


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