Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia

Journal of Clinical Lipidology

Volumn 8, Issue 4, 2014, Pages 390-400

  Ademi, Zanfina ^a,b   Watts, Gerald F ^c   Pang, Jing ^c   Sijbrands, Eric J G ^d   Van Bockxmeer, Frank M ^c,e   O'Leary, Peter ^c,f,g   Geelhoed, Elizabeth ^c   Liew, Danny ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e ROYAL PERTH HOSPITAL   (Australia)

^f CURTIN UNIVERSITY   (Australia)

^g UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Cost effectiveness; Prevention; Screening

Indexed keywords

ATORVASTATIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; AGED; ARTICLE; AUSTRALIA; CHOLESTEROL BLOOD LEVEL; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC TEST ACCURACY STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FOLLOW UP; GENETIC SCREENING; HEALTH CARE COST; HIDDEN MARKOV MODEL; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MORTALITY; PREVALENCE; PRIORITY JOURNAL; QUALITY ADJUSTED LIFE YEAR; RISK ASSESSMENT; SCREENING TEST; SENSITIVITY AND SPECIFICITY; BLOOD; COHORT ANALYSIS; COST BENEFIT ANALYSIS; ECONOMICS; EVIDENCE BASED MEDICINE; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; MIDDLE AGED; PROBABILITY; PROCEDURES;

ADULT; AUSTRALIA; CHOLESTEROL, LDL; COHORT STUDIES; COST-BENEFIT ANALYSIS; EVIDENCE-BASED MEDICINE; FEMALE; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MARKOV CHAINS; MIDDLE AGED; SENSITIVITY AND SPECIFICITY;

EID: 84905913684     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2014.05.008     Document Type: Article

References (41)

1. Hamilton-Craig I, Watts G. Familial hypercholesterolaemia in Australia: new insights and developments. Med J Aust. 2012;198: 72-73.
2. Bates TR, Burnett JR, van Bockxmeer FM, Hamilton S, Arnolda L, Watts GF. Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology. Heart Lung Circ. 2008;17: 411-413.
3. Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DCG, Liem AHHJ, et al. Efficacy of statins in familial hypercholesterolaemia: A long term cohort study. Br Med J. 2008;337: a2423.
4. Ned RM, Sijbrands EJ. Cascade screening for familial hypercholesterolemia (FH). PLoS Curr. 2011;3:RRN1238.
5. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol. 2004;160:407-420.
6. Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, et al. Integrated Guidance on the Care of Familial Hypercholesterolaemia from the International FH Foundation. Int J Cardiol. 2014;171: 309-325.
7. Alonso R, Fernandez De Bobadilla J, Mendez I, Lazaro P, Mata N, Mata P. Cost-effectiveness of managing familial hypercholesterolemia using atorvastatin-based preventive therapy. Rev Esp Cardiol. 2008; 61:382-393.
8. Goldman L, Goldman PA, Williams LW, Weinstein MC. Cost-effectiveness considerations in the treatment of heterozygous familial hypercholesterolemia with medications. Am J Cardiol. 1993;72: 75D-79D.
9. Nherera L, Calvert NW, Demott K, Humphries SE, Neil HAW, Minhas R, et al. Cost-effectiveness analysis of the use of a highintensity statin compared to a low-intensity statin in the management of patients with familial hypercholesterolaemia. Curr Medi Res Opin. 2010;26:529-536.
10. Khoury M, Coates R, Evans J. Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence. Genet Med. 2010;12:680-683.
11. Ademi Z, Watts GF, Juniper A, Liew D. A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia. Int J Cardiol. 2013;167:2391-2396.
12. Briggs A, Sculpher M. An introduction to Markov modelling for economic evaluation. Pharmacoeconomics. 1998;13:397-409.
13. Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, Clifton PM. Familial hypercholesterolaemia: A model of care for Australasia. Atherosclerosis Suppl. 2011;12: 221-231.
14. Watts GF, Hamilton-Craig I, Sullivan DR. NICE Guidance on Familial Hypercholesterolaemia: all sugar and spice? Heart Lung Circ. 2009; 18:181-183.
15. Hooper AJ, Nguyen LT, Burnett JR, Bates TR, Bell DA, Redgrave TG, et al. Genetic analysis of familial hypercholesterolaemia in Western Australia. Atherosclerosis. 2012;224:430-434.
16. Kassner U, Wuhle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I. Clinical utility gene card for: Hyperlipoproteinemia, TYPE II. Eur J Hum Genet. 2013 [E-pub ahead of print].
17. Briffa TG, Hobbs MS, Tonkin A, Sanfilippo FM, Hickling S, Ridout SC, et al. Population trends of recurrent coronary heart disease event rates remain high. Circ Cardiovasc Qual Outcomes. 2011;4:107-113.
18. McElduff P, Dobson A, Jamrozik K, Hobbs M. The WHO MONICA Study, Australia, 1984-93: A summary of the Newcastle and Perth MONICAProjects AIHWCat.No. CVD11. . Canberra: Australian Institute of Health andWelfare; 2000 (Cardiovascular Disease Series No. 13).
19. National GRIM books. Australian Institute of Health and Welfare. Available at: http://www.aihw.gov.au/national-grim-books/Accessed: February 2013.
20. Ademi Z, Liew D, Zomer E, Gorelik A, Hollingsworth B, Steg PG, et al. Outcomes and excess costs among patients with cardiovascular disease. Heart Lung Circ. 2013;22:724-730.
21. Reid C, Nelson MR, Shiel L, Chew D, Connor G, DeLooze F. Australians at risk: management of cardiovascular risk factors in the REACH Registry. Heart Lung Circ. 2008;17:114-118.
22. Stone NJ, Robinson J, Lichtenstein AH, Merz CNB, Blum CB, Eckel RH, et al. 2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Circulation. 2014;129(25 Suppl 2):S1-S45.
23. Mark DB, Hlatky MA, Califf RM, Naylor CD, Lee KL, Armstrong PW, et al. Cost effectiveness of thrombolytic therapy with tissue plasminogen activator as compared with streptokinase for acute myocardial infarction. New Engl J Med. 1995;332: 1418-1424.
24. Medicare Australia. Available at: http://www.medicareaustralia.gov. au/Accessed: 11/04/2013.
25. Pharmaceutical Benefit Scheme (PBS). Available at: http://www.pbs. gov.au/pbs/home Accessed 07/07/2013.
26. Department of Health and Ageing. AR-DRG version 6.0-Canberra: Australian government; 2012 [cited 2012 31/8/12]. Available at: http://www.health.gov.au/ internet/main/publishing. nsf/Content/AR-DRG-Version-6.0.
27. Australian Institute of Health and Welfare. Accessed June 2013. Available at: http://www.aihw.gov.au/WorkArea/DownloadAsset. aspx?id56442473791.
28. Cobiac LJ, Magnus A, Barendregt JJ, Carter R, Vos T. Improving the cost-effectiveness of cardiovascular disease prevention in Australia: a modelling study. BMC Public Health. 2012;12:398.
29. Severens JL, Milne RJ. Discounting health outcomes in economic evaluation: the ongoing debate. Value Health. 2004;7:397-401.
30. Ademi Z, Kim H, Zomer E, Reid CM, Hollingsworth B, Liew D. Overview of pharmacoeconomic modelling methods. Br J Clin Pharmacol. 2013;75:944-950.
31. Briggs A, Sculpher M, Buxton M. Uncertainty in the economic evaluation of health care technologies: the role of sensitivity analysis. Health Econ. 1994;3:95-104.
32. O'Hagan A, McCabe C, Akehurst R, Brennan A, Briggs A, Claxton K, et al. Incorporation of uncertainty in health economic modelling studies. Pharmacoeconomics. 2005;23:529-536.
33. Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, et al. Development of sensitive and specific age-and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med. 2008;46:791-803.
34. Marang-van de Mheen PJ, Ten Asbroek AHA, Bonneux L, Bonsel GJ, Klazinga NS. Cost-effectiveness of a family and DNA based screening programme on familial hypercholesterolaemia in The Netherlands. Eur Heart J. 2002;23:1922-1930.
35. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Andrew H, et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. Br Med J. 2002; 324:1303-1306.
36. Nherera L, Marks D, Minhas R, Thorogood M, Humphries SE. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart. 2011;97:1175-1181.
37. Baigent C, Keech A, Kearney PM, Blackwell L, Buck G, Pollicino C, et al. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. Lancet. 2005;366:1267-1278.
38. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics. 2011;128(Suppl 5):S213-S256.
39. Rodenburg J, Vissers MN, Wiegman A, van Trotsenburg AS, van der Graaf A, de Groot E, et al. Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation. 2007;116: 664-668.
40. Morris JK, Wald DS, Wald NJ. The evaluation of cascade testing for familial hypercholesterolemia. Am J Med Genet Part A. 2011;158: 78-84.
41. Datta BN, McDowell IF, Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol. 2010;21:366-371.