de Craen A J, van Aken M O, Westendorp R G
Leids Universitair Medisch Centrum, afd. Algemene Interne Geneeskunde, sectie Gerontologie en Geriatrie, Postbus 9600, 2300 RC Leiden.
Ned Tijdschr Geneeskd. 2003 Jul 26;147(30):1442-5.
In 1994, the Health Council of the Netherlands published a report entitled 'Genetic screening' which contained 12 criteria for genetic screening programmes. However, the list does not prioritize the various criteria. From the list we have selected two criteria that we consider to be the most important. Firstly, the genetic screening test should be able to discriminate between subjects who are likely to develop the disease and those who are not. Secondly, there should be an effective treatment for subjects with the genetic defect. From this point of view, for example, screening for the C282Y mutation is not a suitable approach for detecting primary haemochromatosis. Although 85-90% of the patients with this disease are homozygous for this mutation, the majority of the carriers will not develop the disease. The 12 criteria of the Health Council of the Netherlands are still applicable. However, when taking a decision as to whether or not genetic screening is useful, we recommend that priority be given to the two primary criteria.
1994年，荷兰卫生委员会发表了一份题为《基因筛查》的报告，其中包含了基因筛查项目的12条标准。然而，该列表并未对各项标准进行优先级排序。我们从该列表中挑选了两条我们认为最重要的标准。首先，基因筛查测试应能够区分可能患该病的受试者和不会患该病的受试者。其次，对于有基因缺陷的受试者应有有效的治疗方法。从这一角度来看，例如，筛查C282Y突变并不是检测原发性血色素沉着症的合适方法。尽管该疾病85%至90%的患者对此突变呈纯合状态，但大多数携带者不会患上该疾病。荷兰卫生委员会的12条标准仍然适用。然而，在决定基因筛查是否有用时，我们建议优先考虑这两条主要标准。
