title: The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Caroline E
authors.identifier: 0000-0001-5917-6519
authors.initials: CE
authors.lastname: Walker
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Trinity
authors.identifier: 0000-0002-2103-4168
authors.initials: T
authors.lastname: Mahede
authors.affiliation: Data Linkage Branch, Purchasing and System Performance, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Geoff
authors.initials: G
authors.lastname: Davis
authors.affiliation: Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Laura J
authors.initials: LJ
authors.lastname: Miller
authors.affiliation: Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Jennifer
authors.identifier: 0000-0002-6826-1886
authors.initials: J
authors.lastname: Girschik
authors.affiliation: Centre for Population Health Research, Curtin University, Perth, Australia.
authors.forename: Kate
authors.initials: K
authors.lastname: Brameld
authors.affiliation: Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Wenxing
authors.initials: W
authors.lastname: Sun
authors.affiliation: INSERM, US14, Paris, France.
authors.forename: Ana
authors.identifier: 0000-0003-4308-6337
authors.initials: A
authors.lastname: Rath
authors.affiliation: INSERM, US14, Paris, France.
authors.forename: Ségolène
authors.initials: S
authors.lastname: Aymé
authors.affiliation: Faculty of Education, University of Western Australia, Perth, Australia.|Telethon Kids Institute, Perth, Australia.
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Zubrick
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.|Telethon Kids Institute, Perth, Australia.|Genetic Services WA, King Edward Memorial Hospital, Perth, Australia.|School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.|Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.|Institute of Immunology and Infectious Diseases, Murdoch University, Perth, Australia.
authors.forename: Gareth S
authors.initials: GS
authors.lastname: Baynam
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Caron
authors.initials: C
authors.lastname: Molster
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.|Centre for Population Health Research, Curtin University, Perth, Australia.|School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.|Centre for Comparative Genomics, Murdoch University, Perth, Australia.
authors.forename: Hugh J S
authors.identifier: 0000-0002-6324-4075
authors.initials: HJS
authors.lastname: Dawkins
authors.affiliation: Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Tarun S
authors.initials: TS
authors.lastname: Weeramanthri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D006296:Health Services / Q000191:economics* / Q000706:statistics & numerical data; D006801:Humans; D016247:Information Storage and Retrieval / Q000191:economics; D007902:Length of Stay / Q000191:economics*; D008875:Middle Aged; D035583:Rare Diseases / Q000191:economics / Q000453:epidemiology*; D012189:Retrospective Studies; D014904:Western Australia / Q000453:epidemiology; D055815:Young Adult