Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia

Current Opinion in Pediatrics

Volumn 26, Issue 3, 2015, Pages 162-168

  Pears, Robert ^a   Griffin, Michael ^b   Futema, Marta ^c   Humphries, Steve E ^c  

^a HAMPSHIRE COUNTY COUNCIL   (United Kingdom)

^b Oxford Business Park South   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

next generation sequencing; polygenic familial hypercholesterolaemia; statin price

Indexed keywords

APOLIPOPROTEIN B; DNA; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

COST EFFECTIVENESS ANALYSIS; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC SCREENING; HUMAN; NEXT GENERATION SEQUENCING; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; COST BENEFIT ANALYSIS; DNA SEQUENCE; ECONOMICS; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; MULTIFACTORIAL INHERITANCE; CASCADE TESTING; COST UTILITY ANALYSIS; GENE MUTATION; HEALTH CARE COST;

COST-BENEFIT ANALYSIS; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MULTIFACTORIAL INHERITANCE; SEQUENCE ANALYSIS, DNA;

EID: 84960125702     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOL.0000000000000173     Document Type: Review

References (31)

1. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168:1-14.
2. Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34:3478-3490a.
3. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012; 97:3956-3964.
4. Do R, Stitziel NO, Won HH, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 2015; 518: 102-106.
5. Besseling J, Kindt I, Hof M, et al. Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14 000 mutation carriers. Atherosclerosis 2014; 233:219-223.
6. Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008; 337:a1095.
7. Humphries SE. Guidelines for the identification and management of patients with familial hypercholesterolaemia (FH): are we coming to a consensus Atheroscler Suppl 2011; 12:217-220.
8. Nherera L, Marks D, Minhas R, et al. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart 2011; 97:1175-1181.
9. Usifo E, Leigh SE, Whittall RA, et al. Low density lipoprotein receptor gene familial hypercholesterolaemia variant database: update and pathological assessment. Ann Hum Genet 2012; 76:387-401.
10. Humphries SE, Whittall RA, Hubbart CS, et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 2006; 43:943-949.
11. Futema M, Plagnol V, Whittall RA, et al. Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. J Med Genet 2012; 49:644-649.
12. Vandrovcova J, Thomas ER, Atanur SS, et al. The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. Genet Med 2013; 15:948-957.
13. Futema M, Plagnol V, Li K, et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 2014; 51:537-544.
14. Braenne I, Reiz B, Medack A, et al. Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia. BMC Cardiovasc Dis 2014; 14:108.
15. Hinchcliffe M, Le H, Fimmel A, et al. Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting. Pathology 2014; 46: 60-68.
16. Yarram-Smith L, Dean P, et al. The impact of routine next generation sequencing testing for familial hypercholesterolaemia-5 months service experience. Atherosclerosis 2014; 236:3304.
17. Norsworthy PJ, Vandrovcova J, Thomas ER, et al. Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. BMC Med Genet 2014; 15:70.
18. Maglio C, Mancina RM, Motta BM, et al. Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing. J Intern Med 2014; 276:396-403.
19. Thomas ER, Atanur SS, Norsworthy PJ, et al. Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia. Mol Genet Genomic Med 2013; 1:155-161.
20. Alves AC, Etxebarria A, Soutar AK, et al. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. Hum Mol Genet 2014; 23:1817-1828.
21. Talmud PJ, Shah S, Whittall R, et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013; 381:1293-1301.
22. Futema M, Shah S, Cooper JA, et al. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. Clin Chem 2015; 61:231-238.
23. Starr B, Hadfield SG, Hutten BA, 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.
24. Huijgen R, Hutten BA, Kindt I, et al. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26 406 individuals tested for genetic FH. Circ Cardiovasc Genet 2012; 5:354-359.
25. 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.
26. Ho CK, Stirling D, Hannant W, Walker SW. Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland. Scott Med J 2012; 57:148-151.
27. 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.
28. Neil A, Cooper J, Betteridge J, et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J 2008; 29: 2625-2633.
29. Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008; 337: a2423.
30. Ademi Z, Watts GF, Pang J, et al. Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolemia. J Clin Lipidol 2014; 8:390-400.
31. Pears R, Griffin M, Watson M, et al. The reduced cost of providing a nationally recognised service for familial hypercholesterolaemia. Open Heart 2014; 1:e000015.