Lumbreras Blanca, Jarrín Inmaculada, Hernández Aguado Ildefonso
Department of Public Health, History of Science and Gynaecology, Universidad Miguel Hernández, Alicante, Spain.
Gac Sanit. 2006 Sep-Oct;20(5):368-73. doi: 10.1016/s0213-9111(06)71522-9.
The advances in genomic analysis technologies have conducted to the development of new diagnostic tests in the clinical practice. As well as it happened in other diagnostic fields, the knowledge of the main flaws affecting genetic investigation will facilitate the application of the results.
We included 44 original articles that evaluate diagnostic exactitude of genetic and molecular tests (including proteomic), published from 2002 to June 2005 in five international publications: JAMA, Lancet, New England Journal of Medicine, Cancer Research and Clinical Cancer Research. We examined adherence to 24 methodological criteria included in the guide STARD (Standards for Reporting of Diagnostic Accuracy.
The mean number of methodological criteria satisfied was 9.8 (95% CI 8.8-10.6); the greater deficiencies were in aspects related to the description of patient's selection 9 (20%), the treatment of indeterminate results 5 (11%) and the determination of test reproducibility 6 (13%). It was observed a high fulfillment in the description of the gold standard 39 (87%) and in the methodology of the test 28 (62%).
The methodologic quality of the evaluated articles is lower than the quality observed in other research fields. The methodologic aspects that most need improvement are those linked to the clinical information of the populations studied and the reproducibility of the tests. The research and development of new genetic-molecular technologies requires a better fulfillment of the epidemiological and clinical criteria already followed by other diagnostic fields.
基因组分析技术的进步促使临床实践中出现了新的诊断测试。与其他诊断领域一样，了解影响基因检测的主要缺陷将有助于结果的应用。
我们纳入了44篇评估基因和分子检测（包括蛋白质组学检测）诊断准确性的原创文章，这些文章于2002年至2005年6月发表在五份国际出版物上：《美国医学会杂志》《柳叶刀》《新英格兰医学杂志》《癌症研究》和《临床癌症研究》。我们检查了这些文章对STARD指南（诊断准确性报告标准）中24条方法学标准的遵循情况。
所满足的方法学标准的平均数量为9.8条（95%置信区间8.8 - 10.6）；最大的缺陷在于患者选择描述方面9条（20%）、不确定结果处理方面5条（11%）以及检测可重复性确定方面6条（13%）。在金标准描述方面有39条（87%）符合要求，在检测方法学方面有28条（62%）符合要求。
所评估文章的方法学质量低于其他研究领域所观察到的质量。最需要改进的方法学方面是与所研究人群的临床信息以及检测可重复性相关的方面。新的基因 - 分子技术的研发需要更好地满足其他诊断领域已经遵循的流行病学和临床标准。
