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

Caroline E WalkerTrinity MahedeGeoff DavisLaura J MillerJennifer GirschikKate BrameldWenxing SunAna RathSégolène AyméStephen R ZubrickGareth S BaynamCaron MolsterHugh J S DawkinsTarun S Weeramanthri
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
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.
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