A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

Bryant, Jackie; Cooper, Keith; Picot, Joanna; Clegg, Andrew; Roderick, Paul; Rosenberg, William; Patch, Christine

doi:10.1136/jmg.2007.055806

Cited by 9 publications

(6 citation statements)

References 30 publications

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“…Our model, consistent with other published studies, reported relatively high levels of uncertainty as evidenced by large standard deviations and 95% CIs reported in the base-case analyses [ 4 , 25 , 41 , 50 , 51 ]. However, these uncertainties were addressed in our one-way sensitivity analyses and, with the exception of discounting, were found to have little impact on the base-case results.…”

Section: Discussionsupporting

confidence: 91%

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Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model

Graaff

Liu

Neil

et al. 2016

PharmacoEconomics Open

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Introduction HFE-associated haemochromatosis, the most common monogenic disorder amongst populations of northern European ancestry, is characterised by iron overload. Excess iron is stored in parenchymal tissues, leading to morbidity and mortality. Population screening programmes are likely to improve early diagnosis, thereby decreasing associated disease. Our aim was to develop and validate a health economics model of screening using utilities and costs from a haemochromatosis cohort.MethodsA state-transition model was developed with Markov states based on disease severity. Australian males (aged 30 years) and females (aged 45 years) of northern European ancestry were the target populations. The screening strategy was the status quo approach in Australia; the model was run over a lifetime horizon. Costs were estimated from the government perspective and reported in 2015 Australian dollars ($A); costs and quality-adjusted life-years (QALYs) were discounted at 5% annually. Model validity was assessed using goodness-of-fit analyses. Second-order Monte-Carlo simulation was used to account for uncertainty in multiple parameters.ResultsFor validity, the model reproduced mortality, life expectancy (LE) and prevalence rates in line with published data. LE for C282Y homozygote males and females were 49.9 and 40.2 years, respectively, slightly lower than population rates. Mean (95% confidence interval) QALYS were 15.7 (7.7–23.7) for males and 14.4 (6.7–22.1) for females. Mean discounted lifetime costs for C282Y homozygotes were $A22,737 (3670–85,793) for males and $A13,840 (1335–67,377) for females. Sensitivity analyses revealed discount rates and prevalence had the greatest impacts on outcomes.ConclusionWe have developed a transparent, validated health economics model of C282Y homozygote haemochromatosis. The model will be useful to decision makers to identify cost-effective screening strategies.

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Section: Discussionsupporting

confidence: 91%

“…The model incorporated four posterior probabilities in both the incidental and cascade screening sub-branches, specific to the tests ordered. The estimates of sensitivity and specificity for genotyping [ 41 ] and TfS tests [ 42 ] are displayed in Table 2 .…”

Section: Methodsmentioning

confidence: 99%

Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model

Graaff

Liu

Neil

et al. 2016

PharmacoEconomics Open

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“…A systematic review found sensitivity and specificity of C282Y homozygosity to be above 90% and almost 100%, respectively, for the presence of an iron overload phenotype in white northern Europeans. 19 A recent prospective population based cohort study showed that documented iron overload disease is rare among C282Y/H63D compound heterozygotes. 20 An advantage of genetic testing in patients with signs of increased iron stores is the certainty of the diagnosis, and this has important implications for treatment and counselling of first degree relatives.…”

Section: Genetic Testingmentioning

confidence: 99%

Diagnosis and management of hereditary haemochromatosis

Bokhoven

Deursen

Swinkels

2011

BMJ

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“…However, the review highlights the limitations of the literature and the methodological difficulties associated with evaluating this genetic test. 144 For Germany, a recent review discusses the cost effectiveness of different strategies of detecting patients via cascade screening, population screening, and genotyping. 145 It confirms the cost effectiveness of the current German policy to screen only for at-risk individuals, but suggests to conduct a DNA test after elevated iron levels have been found, instead of performing two transferrin saturation tests.…”

Section: Genetic Testing and Screening In Common Disordersmentioning

confidence: 99%

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

Becker

Ibarreta

et al. 2011

Eur J Hum Genet

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ESHG background document genetic testing and common disorders F Becker et al S10 European Journal of Human Genetics Knowledge of test Feasibility of screening procedures Suitable test or examination. Suitable test or examination. Test acceptable to the population. Entire screening procedure acceptable to the population. Case finding should be a continuing process and not 'once and for all' project. Screening should be a continuing process and should encompass all elements of screening procedures. Treatment for disease Interventions and follow-up Accepted treatment for patients with recognized disease. Interventions that have physical, psychological, and social net benefit available. Facilities for diagnosis and treatment available. Facilities for adequate surveillance, prevention, treatment, education, counselling, and social support available. Agreed on policy concerning whom to treat as patients. Consensus on accepted management for those with positive test results. Cost considerations Societal and health system issues Costs of case finding (including diagnosis and treatment of patients diagnosed) economically balanced in relation to possible expenditures on medical care as a whole. Costs should be balanced in economic, psychological, social, and medical terms and with health-care expenditures as a whole. Appropriate screening services accessible to the entire population, without adverse consequences for non-participants. Appropriate confidentiality procedures and antidiscrimination provisions for participants and non-participants. a Ethical, legal, and sociobehavioral issues are considered across all domains. Screening should be considered within a framework that recognizes fundamental human rights.

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A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

Abstract: DNA testing for hereditary haemochromatosis in at-risk populations has clinical validity and may have clinical utility. The review highlights the limitations of the literature and the methodological difficulties associated with evaluating this genetic test.

Cited by 9 publications

References 30 publications

Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model

Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model

Diagnosis and management of hereditary haemochromatosis

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

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