Cooper K, Bryant J, Picot J, Clegg A, Roderick P R, Rosenberg W M, Patch C
Southampton Health Technology Assessments Centre, Boldrewood, University of Southampton, Southampton, SO16 7PX.
QJM. 2008 Aug;101(8):631-41. doi: 10.1093/qjmed/hcn070. Epub 2008 Jun 3.
New techniques for diagnosing hereditary haemochromatosis (HHC) have become available alongside traditional tests such as liver biopsy and serum iron studies.
To evaluate DNA tests in people suspected of having haemochromatosis at clinical presentation compared to liver biopsy, and in family members of those diagnosed with haemochromatosis compared to phenotypic iron studies in UK.
Decision analytic models were constructed to compare the costs and consequences of the diagnostic strategies for a hypothetical cohort of people with suspected haemochromatosis. For each strategy, the number of cases of haemochromatosis identified and treated and the resources used were estimated.
For diagnostic strategies in people suspected clinically of having haemochromatosis, the DNA strategy is cost saving compared to liver biopsy (cost saved per case detected, 123 pounds) and continues to be so across all ranges of parameters. For family testing, the DNA strategy is cost saving for the offspring of the proband but not for siblings. If the DNA test cost were to reduce by 40% to 60 pounds or, if in the phenotypic model, those with initially normal iron indices were retested twice instead of once, the DNA strategy would be the cheaper one.
Diagnostic strategies involving DNA testing are likely to be cost saving in clinical cases with iron overload and in the offspring of index cases. This study supports the UK guideline recommendations for the use of DNA testing in UK.
除了肝活检和血清铁研究等传统检测方法外，诊断遗传性血色素沉着症（HHC）的新技术也已出现。
在英国，将DNA检测与肝活检用于临床疑似血色素沉着症患者的诊断进行比较，并将DNA检测与表型铁研究用于血色素沉着症确诊患者的家庭成员的诊断进行比较。
构建决策分析模型，以比较假设的疑似血色素沉着症人群诊断策略的成本和结果。对于每种策略，估计血色素沉着症确诊和治疗的病例数以及所使用的资源。
对于临床疑似血色素沉着症患者的诊断策略，与肝活检相比，DNA策略可节省成本（每确诊一例节省成本123英镑），并且在所有参数范围内均如此。对于家族检测，DNA策略对先证者的后代可节省成本，但对兄弟姐妹则不然。如果DNA检测成本降低40%至60英镑，或者在表型模型中，最初铁指标正常的人进行两次而非一次重新检测，那么DNA策略将更便宜。
涉及DNA检测的诊断策略在铁过载的临床病例以及先证者的后代中可能节省成本。本研究支持英国指南中关于在英国使用DNA检测的建议。
