The impact of single gene and chromosomal disorders on hospital admissions in an adult population

Abstract

Although the role of single gene and chromosomal disorders in pediatric illness has been recognized since the 1970s, there are few data describing the impact of these often severe disorders on the health of the adult population. In this study, we present population data describing the impact of single gene and chromosomal disorders on hospital admissions of patients aged 20 years and over in Western Australia between 2000 and 2006. The number, length, and cost of admissions were investigated and compared between disease categories and age groups and to hospital admissions for any reason. In total, 73,211 admissions and 8,032 patients were included in the study. The most costly disorders were cystic kidney disease, α-1 anti-trypsin deficiency, hemochromatosis, von Willebrand disease, and cystic fibrosis. Overall, patients with single gene and chromosomal disorders represented 0.5% of the patient population and were responsible for 1.9% of admissions and 1.5% of hospital costs. These data will enable informed provision of health care services for adults with single gene and chromosomal disorders in Australia.

Survey of healthcare experiences of Australian adults living with rare diseases

“…This suggests that health service use may be higher among people living with rare diseases compared to the general population. This claim is supported with a study by Dye et al (2011) which found that adults living with rare genetic disorders had increased numbers of hospital admissions and longer lengths of stay [ 38 ]. Thus the health system costs attributable to rare diseases may be disproportionately high compared to the size of the population living with rare diseases.…”

Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes

“…Mr Kim Snowball, Director General of the Department of Health in Western Australia then launched the Symposium by highlighting the importance of rare diseases within the context of health service delivery [2,3]. He spoke of the impact of chronic, often life-shortening and generally debilitating diseases and the frequent associations with other co-morbidities such as developmental delays, depression and intellectual disability [4-6].…”

The Western Australian Family Connections Genealogical Project: Detection of Familial Occurrences of Single Gene and Chromosomal Disorders

“…The ICD-10-AM coding system itself has some limitations. Previously, we reported that the ICD-10-AM code for muscular dystrophy (G710) includes early and late onset disorders, with variable modes of inheritance (Dye et al, 2011b). In addition, the data linkage methods for this study only detected cases where both family members were hospitalized during the study period and the condition of interest was documented on all admission records.…”