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

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.Genet Med advance online publication 22 September 2016

The need for a next-generation public health response to rare diseases

“…The 2% of the population affected by rare diseases accounted for 4.6 to 10.5% of total hospitalization expenditures. 3 These results affirm previous findings. Using codes that largely overlap with the codes used by Walker et al, 3 Yoon et al 5 reported that, in a pediatric population from two states in the United States comprising patients with hospital codes for birth defects and genetic diseases, approximately 2.5% accounted for 9 to 12% of pediatric hospital admissions and 16 to 28% of total costs.…”

“…In this issue of Genetics in Medicine , Walker et al 3 describe a meticulous attempt to make the collective burden of rare diseases more visible. Using 11.5 years of linked statewide administrative databases in Western Australia, the authors sought to identify individuals affected with rare diseases.…”

“…Walker et al 3 also calculated the impact of rare diseases on the health-care system in Western Australia; hospital stays related to rare disease were, on average, approximately 3 days longer than stays for the general population. The 2% of the population affected by rare diseases accounted for 4.6 to 10.5% of total hospitalization expenditures.…”

“…Rare diseases may account for a greater share of hospital admissions and costs for children than for adults. The data from Walker et al 3 enable investigators to test this hypothesis.…”

3-Dimensional Facial Analysis—Facing Precision Public Health

“…Additionally, by improving certainty of the diagnosis of RD, one could more accurately assess interventions targeted to the reduction of the burden of these conditions. Given the marked disparity between the proportion of the population with RD and their combined health system costs, supporting the need for early diagnosis and intervention has the potential to drive cost savings across the health system (29). …”