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.
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References
Australian Bureau of Statistics (2008) Population by age and sex, regions of Australia, 2008. Available at http://wwwabsgovau/ausstats/
Australian Bureau of Statistics (2010) Australian demographic statistics, March 2010. Available at http://wwwabsgovau/ausstats/abs@nsf/mf/31010/
Australian Government Department of Health and Aging (2000–2006) National hospital cost data collection: WA cost weights. Available at http://www.health.gov.au/internet/main/publishing.nsf/Content/health-casemix-data-collections-about_NHCDC
Australian Institute of Heatlh and Welfare (2009) Health expenditure Australia 2007–2008. Health and Welfare Expenditure Series No. 37. Available at http://www.aihw.gov.au/publications/index.cfm/title/10954
Baird PA, Anderson TW, Newcombe HB, Lowry RB (1988) Genetic disorders in children and young adults: a population study. Am J Hum Genet 42(5):677–693
Barua M, Cil O, Paterson AD, Wang K, He N, Dicks E, Parfrey P, Pei Y (2009) Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol 20(8):1833–1838. doi:10.1681/asn.2009020162
Casanova JL, Abel L (2007) Human genetics of infectious diseases: a unified theory. EMBO J 26(4):915–922. doi:10.1038/sj.emboj.7601558
Davila S, Hibberd ML (2009) Genome-wide association studies are coming for human infectious diseases. Genome Med 1(2):19. doi:10.1186/gm19
Day N, Holmes LB (1973) The incidence of genetic disease in a University hospital population. Am J Hum Genet 25(3):237–246
DeMeo DL, Campbell EJ, Brantly ML, Barker AF, Eden E, McElvaney NG, Rennard SI, Stocks JM, Stoller JK, Strange C, Turino G, Sandhaus RA, Silverman EK (2009) Heritability of lung function in severe alpha-1 antitrypsin deficiency. Hum Hered 67(1):38–45. doi:10.1159/000164397
Dye DE, Brameld KJ, Maxwell S, Goldblatt J, Bower C, Leonard H, Bourke J, Glasson EJ, O'Leary P (2010) The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population based study. Public Health Genomics (in press)
FitzPatrick DR, Skeoch CH, Tolmie JL (1991) Genetic aspects of admissions to a paediatric intensive care unit. Arch Dis Child 66(5):639–641
Giampietro PF, Greenlee RT, McPherson E, Benetti LL, Berg RL, Wagner SF (2006) Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area. Genet Med 8(8):474–490. doi:10.1097/01.gim.0000232479.90268.40
Hall JG (1997) The impact of birth defects and genetic diseases. Arch Pediatr Adolesc Med 151(11):1082–1083
Hall JG, Powers EK, McLlvaine RT, Ean VH (1978) The frequency and financial burden of genetic disease in a paediatric hospital. Am J Med Genet 1(4):417–436. doi:10.1002/ajmg.1320010405
Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D (1999) Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 353(9147):103–107
Hodson ME (2000) Treatment of cystic fibrosis in the adult. Respiration 67(6):595–607
Holman CD, Bass AJ, Rosman DL, Smith MB, Semmens JB, Glasson EJ, Brook EL, Trutwein B, Rouse IL, Watson CR, de Klerk NH, Stanley FJ (2008) A decade of data linkage in Western Australia: strategic design, applications and benefits of the WA data linkage system. Aust Health Rev 32(4):766–777
Kumar P, Radhakrishnan J, Chowdhary MA, Giampietro PF (2001) Prevalence and patterns of presentation of genetic disorders in a paediatric emergency department. Mayo Clin Proc 76(8):777–783
McCandless SE, Brunger JW, Cassidy SB (2004) The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet 74(1):121–127
McDonald S, Chang S, Excell LANZDATA, Report R (2007) Appendix 1 Australia and New Zealand Dialysis and Transplant Registry. Adelaide, South Australia
Meguid NA, El Bayoumi SM, Hamdi NF, Amen WM, Sayed M, Mahmoud A (2003) Prevalence of genetic disorders in paediatric emergency department Al Galaa teaching hospital. Pakistan Journal of Biological Sciences 6(23):1961–1965
Regan EN (2009) Hemochromatosis: pumping too much iron. Nurse Pract 34(6):25–29. doi:10.1097/01.NPR.0000352285.81981.d5
Rimoin DL, Conner MJ (2002) Nature and frequency of genetic disease. In: Rimoin DL, Conner JM, Pyeritz RE, Korf BR (eds) Emery and Rimoin's principles and practice of medical genetics vol 1. Churchill Livingstone, New York, pp 55–59
Scriver CR, Neal JL, Saginur R, Clow A (1973) The frequency of genetic disease and congenital malformation among patients in a paediatric hospital. Can Med Assoc J 108(9):1111–1115
Stanley C, Bankier A, Rose C, Robinson K, Halliday J (2009) The genetic basis for admissions to a paediatric hospital. Twin Research and Human Genetics 12(2):233
Trimble BK, Doughty JH (1974) The amount of hereditary disease in human populations. Ann Hum Genet 38(2):199–223
Yoon PW, Olney RS, Khoury MJ, Sappenfield WM, Chavez GF, Taylor D (1997) Contribution of birth defects and genetic diseases to paediatric hospitalizations. A population-based study. Arch Pediatr Adolesc Med 151(11):1096–1103
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Dye, D.E., Brameld, K.J., Maxwell, S. et al. The impact of single gene and chromosomal disorders on hospital admissions in an adult population. J Community Genet 2, 81–90 (2011). https://doi.org/10.1007/s12687-011-0043-3
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DOI: https://doi.org/10.1007/s12687-011-0043-3