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.

Fig. 1

The proportion of total patients, admissions, and expenditure due to single gene and chromosomal disorders in WA hospitals in 2006. Squares patients, circles admissions, triangles costs

Fig. 2

Cost per patient and per admission for patients with single gene and chromosomal disorders versus all patients in WA in 2006. Closed triangles genetic admissions, open triangles all admissions, closed squares genetic patients, open squares all patients

Fig. 3

Total costs for specific single gene disorders, by age group, 2000–2006: aclosed squares CKD, closed triangles disorders of iron metabolism, closed circles α-1 anti-trypsin deficiency, open squares CF; bclosed squares vWD, closed triangles deficiency of clotting factors (excluding factors VIII, IX, and XI), open squares thalassemia, closed circles hereditary hemolytic anemias (excluding thalassemia, sickle cell disorders, and hereditary spherocytosis); cclosed squares DS, closed circles hereditary ataxia