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

Background Osteoporosis is common. Traumatic fracture is more likely in those with osteoporosis at significant cost. Given the burden of the osteoporotic fracture and need to prioritise fracture prevention and management initiatives in WA, we sought to further investigate the 10-year linked data from the previous study to examine hospital utilisation and mortality associated with traumatic fractures in those with osteoporosis.1 Objectives To compare hospital utilisation and mortality outcomes of “traumatic” hip with non-hip fractures in patients with osteoporosis in Western Australia (WA) over 10 years. Methods Design: Retrospective cohort study (2002 to 2011). Setting: Population-based data linkage of the WA Hospital Morbidity Data System and Mortality Registry. Participants: WA residents aged ≥50 years hospitalised with an index “traumatic” fracture and osteoporosis. Index fractures sites included hip, spine, pelvic, rib or “other” fracture sites. Main outcome measures: Index hospitalisations, hospital readmission due to any subsequent fractures, length of stay (LOS), admission costs, characteristics of hospital stay and mortality. Results Specific fracture sites for index cases were identified in 974 patients (18% of all index cases) due to coding inconsistencies. Index hip and spine fractures were the most common fractures requiring hospitalisations, with index hip being the most expensive to treat ($40,570 per person on average) and the cost accounted for 65% of total cost of index cases. Non-hip fractures accounted for 68% of admissions and have similar hospital utilisation as hip fracture in terms of LOS (30 days on average), requirement for hospital transportation (over 60%) and rate of readmission. The risk of readmission following index spine fracture was 1.5-fold higher (95%CI=1.14–1.98) than index hip fractures. No significant mortality difference was found between hospitalised hip and non-hip cases. The 1 year, 5 years and 10 years cumulative probability of death for hip fracture was 21%, 61% and 84%, respectively. Conclusions Fracture prevention strategies need to target all with osteoporosis (marker of frailty) to reduce incidence of first fracture (including traumatic). Although mortality and readmission were similar for hospitalised hip and non- hip fracture patients, hip fracture accounted for 32% of index fractures and 65% of costs. Better coding system of osteoporotic fracture in the hospital data in Australia is required to monitor the disease progression in the aging population. References Briggs AM, Sun W, Miller LJ, Geelhoed E, Huska A, Inderjeeth CA. Hospitalisations, admission costs and re-fracture risk related to osteoporosis in Western Australia are substantial: a 10-year review. Aust N Z J Public Health 2015. Disclosure of Interest None declared

To quantify hospitalisation costs to Western Australia (WA) for osteoporosis-related fractures and estimate risk of readmission after incident fracture. All hospitalisation records for WA residents aged ≥50 years admitted to a WA hospital between 2002 and 2011 due to osteoporotic fractures were extracted from the WA Hospital Morbidity Data System. Data linkage enabled identification of the first (index) fracture admission, determination of subsequent osteoporotic fracture-related readmissions, and quantification of total admission costs and bed days. Cox proportional hazard models assessed factors influencing first readmission. A total of 5,326 patients were admitted to WA hospitals for an index fracture. Of the 2,037 (38.2%) patients who sustained a re-fracture requiring readmission, 1,223 (23.0%) had one re-fracture episode, 453 (8.5%) has two, and 361 (6.8%) has three or more re-fracture episodes requiring readmission. Cost of index admissions was $57,007,262 while $48,948,623 was associated with readmissions (CPI-adjusted to 2011/12). Cumulative probability of readmission within six months of the index admission was 20% (males) and 17% (females). Osteoporotic fracture-related hospitalisations impose a substantial financial impact on WA, exceeding $100 million in a decade. Considering the large system costs, policy and programs to improve identification of index fractures and initiation of osteoporosis treatments and primary prevention initiatives are justified.

Background: People with neuromuscular disorders (NMD) exhibit weak coughs and are susceptible to recurrent chest infections and acute respiratory complications, the most frequent reasons for their unplanned hospital admissions. Mechanical insufflation-exsufflation (MI-E) devices are a non-invasive method of increasing peak cough flow, improving cough efficacy, the clearance of secretion and overcoming atelectasis. There is limited published evidence on the impact of home use MI-E devices on health service utilisation. The aims of the study were: to assess the self-reported health and lifestyle benefits experienced as a result of home use of MI-E devices; and evaluate the effects of in-home use of MI-E devices on Emergency Department (ED) presentations, hospital admissions and inpatient length of stay (LOS).Methods: Individuals with NMD who were accessing a home MI-E device provided through Muscular Dystrophy Western Australia were invited to participate in a quantitative survey to obtain information on their experiences and self-assessed changes in respiratory health. An ad-hoc record linkage was performed to extract hospital, ED and mortality data from the Western Australian Department of Health (DOHWA). The main outcome measures were ED presentations, hospital separations and LOS, before and after commencement of home use of an MI-E device.Results: Thirty seven individuals with NMD using a MI-E device at home consented to participate in this study. The majority (73%) of participants reported using the MI-E device daily or weekly at home without medical assistance and 32% had used the machine to resolve a choking episode. The survey highlighted benefits to respiratory function maintenance and the ability to manage increased health care needs at home. Not using a home MI-E device was associated with an increased risk of ED presentations (RR = 1.76, 95% CI 1.1-2.84). The number of hospital separations and LOS reduced after the use of MI-E device, but not significantly. No deaths were observed in participants using the MI-E device at home.Conclusions: Home use of a MI-E device by people living with NMD may have a potential impact on reducing their health service utilisation and risk of death. Future research with greater subject numbers and longer follow-up periods is recommended to enhance this field of study.