Skip to main content
Top
Published in: Applied Health Economics and Health Policy 4/2017

01-08-2017 | Original Research Article

Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia

Authors: Barbara de Graaff, Amanda Neil, Lei Si, Kwang Chien Yee, Kristy Sanderson, Lyle Gurrin, Andrew J. Palmer

Published in: Applied Health Economics and Health Policy | Issue 4/2017

Login to get access

Abstract

Introduction

Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. No contemporary health economic evaluation has been published for Australia. The objective of this study was to identify cost-effective screening strategies for haemochromatosis in the Australian setting.

Methods

A Markov model using probabilistic decision analysis was developed comparing four adult screening strategies: the status quo (cascade and incidental screening), genotyping with blood and buccal samples and transferrin saturation followed by genotyping (TfS). Target populations were males (30 years) and females (45 years) of northern European ancestry. Cost-effectiveness was estimated from the government perspective over a lifetime horizon.

Results

All strategies for males were cost-effective compared to the status quo. The incremental costs (standard deviation) associated with genotyping (blood) were AUD7 (56), TfS AUD15 (45) and genotyping (buccal) AUD63 (56), producing ICERs of AUD1673, 4103 and 15,233/quality-adjusted life-year (QALY) gained, respectively. For females, only the TfS strategy was cost-effective, producing an ICER of AUD10,195/QALY gained. Approximately 3% of C282Y homozygotes were estimated to be identified with the status quo approach, compared with 40% with the proposed screening strategies.

Conclusion

This model estimated that genotyping and TfS strategies are likely to be more cost-effective screening strategies than the status quo.
Appendix
Available only for authorised users
Literature
2.
go back to reference Allen K. Hereditary haemochromatosis—diagnosis and management. Aust Fam Physician. 2010;39(12):938–41.PubMed Allen K. Hereditary haemochromatosis—diagnosis and management. Aust Fam Physician. 2010;39(12):938–41.PubMed
4.
go back to reference Gagne G, et al. Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms. Clin Genet. 2007;71(1):46–58.CrossRefPubMed Gagne G, et al. Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms. Clin Genet. 2007;71(1):46–58.CrossRefPubMed
5.
go back to reference Adams PC, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model comparing genotyping to phenotyping. Am J Gastroenterol. 1999;94(6):1593–600.CrossRefPubMed Adams PC, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model comparing genotyping to phenotyping. Am J Gastroenterol. 1999;94(6):1593–600.CrossRefPubMed
6.
go back to reference Allen KJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358(3):221–30.CrossRefPubMed Allen KJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358(3):221–30.CrossRefPubMed
7.
go back to reference Whitlock EP, et al. Screening for hereditary hemochromatosis: a systematic review for the US Preventive Services Task Force. Ann Intern Med. 2006;145(3):209–23.CrossRefPubMed Whitlock EP, et al. Screening for hereditary hemochromatosis: a systematic review for the US Preventive Services Task Force. Ann Intern Med. 2006;145(3):209–23.CrossRefPubMed
8.
go back to reference Asberg A, et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol. 2001;36(10):1108–15.CrossRefPubMed Asberg A, et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol. 2001;36(10):1108–15.CrossRefPubMed
9.
go back to reference Thorstensen K, et al. Screening for C282Y homozygosity in a Norwegian population (HUNT2): the sensitivity and specificity of transferrin saturation. Scand J Clin Lab Invest. 2010;70(2):92–7.CrossRefPubMed Thorstensen K, et al. Screening for C282Y homozygosity in a Norwegian population (HUNT2): the sensitivity and specificity of transferrin saturation. Scand J Clin Lab Invest. 2010;70(2):92–7.CrossRefPubMed
10.
go back to reference Handa P, Kowdley KV. Glyceronephosphate O-acyltransferase as a hemochromatosis modifier gene: another iron in the fire? Hepatology. 2015;62(2):337–9.CrossRefPubMed Handa P, Kowdley KV. Glyceronephosphate O-acyltransferase as a hemochromatosis modifier gene: another iron in the fire? Hepatology. 2015;62(2):337–9.CrossRefPubMed
11.
go back to reference McLaren CE, et al. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology. 2015;62(2):429–39.CrossRefPubMedPubMedCentral McLaren CE, et al. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology. 2015;62(2):429–39.CrossRefPubMedPubMedCentral
12.
go back to reference Barton J, Edwards CQ. Hemochromatosis: genetics, patholphysiology, diagnosis and treatment. Cambridge: Cambridge University Press; 2000.CrossRef Barton J, Edwards CQ. Hemochromatosis: genetics, patholphysiology, diagnosis and treatment. Cambridge: Cambridge University Press; 2000.CrossRef
13.
go back to reference Byrnes V, et al. The underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration, expectations based on a study of relatives of symptomatic probands. Gastroenterology. 2000;118(4):A997. Byrnes V, et al. The underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration, expectations based on a study of relatives of symptomatic probands. Gastroenterology. 2000;118(4):A997.
14.
go back to reference Mundy L, Merlin T. Population genetic screening for haemochromatosis: identifying asymptomatic “at risk” homozygous individuals. In: AHTA, editor. Horizon scanning prioritising summary, vol 1. A.H.T.A. Adelaide: AGDHA; 2004. Mundy L, Merlin T. Population genetic screening for haemochromatosis: identifying asymptomatic “at risk” homozygous individuals. In: AHTA, editor. Horizon scanning prioritising summary, vol 1. A.H.T.A. Adelaide: AGDHA; 2004.
15.
go back to reference Adams P, Brissot P, Powell LW. EASL international consensus conference on haemochromatosis. J Hepatol. 2000;33(3):485–504.CrossRefPubMed Adams P, Brissot P, Powell LW. EASL international consensus conference on haemochromatosis. J Hepatol. 2000;33(3):485–504.CrossRefPubMed
16.
go back to reference Allen KJ. Population genetic screening for hereditary haemochromatosis: are we a step closer? Med J Aust. 2008;189(6):300–1.PubMed Allen KJ. Population genetic screening for hereditary haemochromatosis: are we a step closer? Med J Aust. 2008;189(6):300–1.PubMed
17.
go back to reference Delatycki MB, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet. 2005;366(9482):314–6.CrossRefPubMed Delatycki MB, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet. 2005;366(9482):314–6.CrossRefPubMed
18.
go back to reference Adams P, et al. Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study. Can J Gastroenterol. 2009;23(11):769–72.CrossRefPubMedPubMedCentral Adams P, et al. Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study. Can J Gastroenterol. 2009;23(11):769–72.CrossRefPubMedPubMedCentral
20.
go back to reference Caro JJ, et al. Modeling good research practices—overview: a report of the ISPOR-SMDM modeling good research practices task force-1. Med Decis Making. 2012;32(5):667–77.CrossRefPubMed Caro JJ, et al. Modeling good research practices—overview: a report of the ISPOR-SMDM modeling good research practices task force-1. Med Decis Making. 2012;32(5):667–77.CrossRefPubMed
21.
go back to reference de Graaff B, et al. A Systematic review and narrative synthesis of health economic studies conducted for hereditary haemochromatosis. Appl Health Econ Policy. 2015. doi:10.1007/s40258-015-0189-y. de Graaff B, et al. A Systematic review and narrative synthesis of health economic studies conducted for hereditary haemochromatosis. Appl Health Econ Policy. 2015. doi:10.​1007/​s40258-015-0189-y.
22.
go back to reference Adams PC, Speechley M. The effect of arthritis on the quality of life in hereditary hemochromatosis. J Rheumatol. 1996;23(4):707–10.PubMed Adams PC, Speechley M. The effect of arthritis on the quality of life in hereditary hemochromatosis. J Rheumatol. 1996;23(4):707–10.PubMed
24.
go back to reference Asberg A, et al. Benefit of population-based screening for phenotypic hemochromatosis in young men. Scand J Gastroenterol. 2002;37(10):1212–9.CrossRefPubMed Asberg A, et al. Benefit of population-based screening for phenotypic hemochromatosis in young men. Scand J Gastroenterol. 2002;37(10):1212–9.CrossRefPubMed
25.
go back to reference Adams P, et al. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterol Clin North Am. 1995;108:177–88. Adams P, et al. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterol Clin North Am. 1995;108:177–88.
26.
go back to reference Adams P, Kertesz A, Valberg L. Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. Hepatology. 1995;22(6):1720–7.PubMed Adams P, Kertesz A, Valberg L. Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. Hepatology. 1995;22(6):1720–7.PubMed
27.
go back to reference de Graaff B, Si L, Neil AL, et al. Population screening for hereditary haemochromatosis in Australia: construction and validation of a state-transition cost-effectiveness model. Pharmacoecon Open. 2016. doi:10.1007/s41669-016-0005-0. de Graaff B, Si L, Neil AL, et al. Population screening for hereditary haemochromatosis in Australia: construction and validation of a state-transition cost-effectiveness model. Pharmacoecon Open. 2016. doi:10.​1007/​s41669-016-0005-0.
28.
go back to reference Adams P, Brissot P, Powell L. EASL international consensus conference on haemochromatosis—part II. Expert document. J Hepatol. 2000;33(3):487–96.CrossRef Adams P, Brissot P, Powell L. EASL international consensus conference on haemochromatosis—part II. Expert document. J Hepatol. 2000;33(3):487–96.CrossRef
29.
go back to reference Allen KJ, et al. Healthiron: a longitudinal population study defining the burden of disease in HFE-associated hereditary hemochromatosis. Am J Hematol. 2007;82(6):537. Allen KJ, et al. Healthiron: a longitudinal population study defining the burden of disease in HFE-associated hereditary hemochromatosis. Am J Hematol. 2007;82(6):537.
30.
go back to reference Gurrin LC, et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology. 2008;135(6):1945–52.CrossRefPubMed Gurrin LC, et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology. 2008;135(6):1945–52.CrossRefPubMed
32.
go back to reference Crooks CJ, et al. The epidemiology of haemochromatosis: a population-based study. Aliment Pharmacol Ther. 2009;29(2):183–92.CrossRefPubMed Crooks CJ, et al. The epidemiology of haemochromatosis: a population-based study. Aliment Pharmacol Ther. 2009;29(2):183–92.CrossRefPubMed
33.
go back to reference Elmberg M, et al. Increased mortality risk in patients with phenotypic hereditary hemochromatosis but not in their first-degree relatives. Gastroenterology. 2009;137(4):1301–9.CrossRefPubMed Elmberg M, et al. Increased mortality risk in patients with phenotypic hereditary hemochromatosis but not in their first-degree relatives. Gastroenterology. 2009;137(4):1301–9.CrossRefPubMed
34.
go back to reference Rogowski WH. The cost-effectiveness of screening for hereditary hemochromatosis in Germany: a remodeling study. Med Decis Making. 2009;29(2):224–38.CrossRefPubMed Rogowski WH. The cost-effectiveness of screening for hereditary hemochromatosis in Germany: a remodeling study. Med Decis Making. 2009;29(2):224–38.CrossRefPubMed
35.
go back to reference Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med. 1994;154(7):769–76.CrossRefPubMed Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med. 1994;154(7):769–76.CrossRefPubMed
36.
go back to reference Adams PC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005;352(17):1769–78.CrossRefPubMed Adams PC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005;352(17):1769–78.CrossRefPubMed
37.
go back to reference Merryweather-Clarke AT, et al. A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation. Br J Haematol. 1997;99(2):460–3.CrossRefPubMed Merryweather-Clarke AT, et al. A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation. Br J Haematol. 1997;99(2):460–3.CrossRefPubMed
38.
go back to reference Bradley LA, et al. Hereditary haemochromatosis mutation frequencies in the general population. J Med Screen. 1998;5(1):34–6.CrossRefPubMed Bradley LA, et al. Hereditary haemochromatosis mutation frequencies in the general population. J Med Screen. 1998;5(1):34–6.CrossRefPubMed
39.
go back to reference Baty D, et al. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis. J Clin Pathol. 1998;51(1):73–4.CrossRefPubMedPubMedCentral Baty D, et al. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis. J Clin Pathol. 1998;51(1):73–4.CrossRefPubMedPubMedCentral
40.
go back to reference Soloway RD, et al. Inhibitors present in blood do not inhibit PCR from buccal cell preparations: case report. Vivo. 1999;13(6):453–4. Soloway RD, et al. Inhibitors present in blood do not inhibit PCR from buccal cell preparations: case report. Vivo. 1999;13(6):453–4.
41.
go back to reference Nisselle AE, et al. Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis. Clin Genet. 2004;65(5):358–67.CrossRefPubMed Nisselle AE, et al. Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis. Clin Genet. 2004;65(5):358–67.CrossRefPubMed
42.
go back to reference Australian Institute of Health and Welfare and Australia. Department of Health and Ageing. National Bowel Cancer Screening Program monitoring report, Phase 2, July 2008–June 2011. Cancer series. Canberra: Australian Institute of Health and Welfare; 2012. xiii. Australian Institute of Health and Welfare and Australia. Department of Health and Ageing. National Bowel Cancer Screening Program monitoring report, Phase 2, July 2008–June 2011. Cancer series. Canberra: Australian Institute of Health and Welfare; 2012. xiii.
43.
go back to reference Australian Institute for Health and Welfare, Cervical screening in Australia 2012–2013, in Cancer series. Canberra: Australian Institute for Health and Welfare; 2015. Australian Institute for Health and Welfare, Cervical screening in Australia 2012–2013, in Cancer series. Canberra: Australian Institute for Health and Welfare; 2015.
44.
go back to reference Hicken BL, Tucker DC, Barton JC. Patient compliance with phlebotomy therapy for iron overload associated with hemochromatosis. Am J Gastroenterol. 2003;98(9):2072–7.CrossRefPubMed Hicken BL, Tucker DC, Barton JC. Patient compliance with phlebotomy therapy for iron overload associated with hemochromatosis. Am J Gastroenterol. 2003;98(9):2072–7.CrossRefPubMed
45.
go back to reference de Graaff B, et al. Costs associated with hereditary haemochromatosis in Australia: a cost of illness study. Aust Health Rev. 2016. doi:10.1071/AH15188. de Graaff B, et al. Costs associated with hereditary haemochromatosis in Australia: a cost of illness study. Aust Health Rev. 2016. doi:10.​1071/​AH15188.
46.
go back to reference Australian Government Department of Health. Medicare benefits schedule book. Canberra: Australian Government Department of Health; 2014. Australian Government Department of Health. Medicare benefits schedule book. Canberra: Australian Government Department of Health; 2014.
47.
go back to reference Australian Government Department of Health, schedule of pharmaceutical benefits 1 January 2015–31 January 2015. Canberra: Australian Government Department of Health; 2015. Australian Government Department of Health, schedule of pharmaceutical benefits 1 January 2015–31 January 2015. Canberra: Australian Government Department of Health; 2015.
48.
go back to reference Independent Hospital Pricing Authority. National hospital cost data collection Australian public hospitals cost report 2011–2012, round 16. Independent Hospital Pricing Authority; 2014. Independent Hospital Pricing Authority. National hospital cost data collection Australian public hospitals cost report 2011–2012, round 16. Independent Hospital Pricing Authority; 2014.
49.
go back to reference Australian Government Department of Health and Ageing. Technical guidelines for preparing assessment reports for the Medical Services Advisory Committee—service type: therapeutic (Version 1.2), A.G.D.o.H.a. In: Ageing, editor. Canberra: Australian Government Department of Health and Ageing; 2013. Australian Government Department of Health and Ageing. Technical guidelines for preparing assessment reports for the Medical Services Advisory Committee—service type: therapeutic (Version 1.2), A.G.D.o.H.a. In: Ageing, editor. Canberra: Australian Government Department of Health and Ageing; 2013.
50.
go back to reference Eddy DM, et al. Model transparency and validation: a report of the ISPOR-SMDM modeling good research practices task force-7. Value Health. 2012;15(6):843–50.CrossRefPubMed Eddy DM, et al. Model transparency and validation: a report of the ISPOR-SMDM modeling good research practices task force-7. Value Health. 2012;15(6):843–50.CrossRefPubMed
51.
go back to reference Briggs AH, et al. Model parameter estimation and uncertainty analysis: a report of the ISPOR-SMDM modeling good research practices task force working group-6. Med Decis Making. 2012;32(5):722–32.CrossRefPubMed Briggs AH, et al. Model parameter estimation and uncertainty analysis: a report of the ISPOR-SMDM modeling good research practices task force working group-6. Med Decis Making. 2012;32(5):722–32.CrossRefPubMed
52.
go back to reference Henry DA, Hill SR, Harris A. Drug prices and value for money: the Australian pharmaceutical benefits scheme. Jama. 2005;294(20):2630–2.CrossRefPubMed Henry DA, Hill SR, Harris A. Drug prices and value for money: the Australian pharmaceutical benefits scheme. Jama. 2005;294(20):2630–2.CrossRefPubMed
53.
go back to reference Scott N, Iser DM, Thompson AJ, Doyle JS, Hellard ME. Cost-effectiveness of treating chronic hepatitis C virus with direct-acting antivirals in people who inject drugs in Australia. J Gastroenterol Hepatol. 2016;31(4):872–82. Scott N, Iser DM, Thompson AJ, Doyle JS, Hellard ME. Cost-effectiveness of treating chronic hepatitis C virus with direct-acting antivirals in people who inject drugs in Australia. J Gastroenterol Hepatol. 2016;31(4):872–82.
54.
go back to reference Bardou-Jacquet E, et al. Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. J Hepatol. 2015;62(3):682–9.CrossRefPubMed Bardou-Jacquet E, et al. Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. J Hepatol. 2015;62(3):682–9.CrossRefPubMed
55.
go back to reference Smith DP, et al. Prostate cancer and prostate-specific antigen testing in New South Wales. Med J Aust. 2008;189(6):315–8.PubMed Smith DP, et al. Prostate cancer and prostate-specific antigen testing in New South Wales. Med J Aust. 2008;189(6):315–8.PubMed
56.
go back to reference Nisselle AE, Delatycki MB, Collins V, Metcalfe S, Aitken MA, du Sart D, et al. Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis. Clin Genet. 2004;65(5):358–67.CrossRefPubMed Nisselle AE, Delatycki MB, Collins V, Metcalfe S, Aitken MA, du Sart D, et al. Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis. Clin Genet. 2004;65(5):358–67.CrossRefPubMed
57.
58.
go back to reference Bryant J, Cooper K, Picot J, Clegg A, Roderick P, Rosenberg W, et al. A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations. J Med Genet. 2008;45(8):513–8.CrossRefPubMed Bryant J, Cooper K, Picot J, Clegg A, Roderick P, Rosenberg W, et al. A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations. J Med Genet. 2008;45(8):513–8.CrossRefPubMed
Metadata
Title
Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia
Authors
Barbara de Graaff
Amanda Neil
Lei Si
Kwang Chien Yee
Kristy Sanderson
Lyle Gurrin
Andrew J. Palmer
Publication date
01-08-2017
Publisher
Springer International Publishing
Published in
Applied Health Economics and Health Policy / Issue 4/2017
Print ISSN: 1175-5652
Electronic ISSN: 1179-1896
DOI
https://doi.org/10.1007/s40258-016-0297-3

Other articles of this Issue 4/2017

Applied Health Economics and Health Policy 4/2017 Go to the issue