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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

机译：桑格测序和外显子组测序在异质性疾病诊断中的应用后比较

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The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a large number of genes. So far it is not clear whether these approaches perform significantly better than conventional single gene testing as requested by clinicians. The current yield of this traditional diagnostic approach depends on a complex of factors that include gene-specific phenotype traits, and the relative frequency of the involvement of specific genes. To gauge the impact of the paradigm shift that is occurring in molecular diagnostics, we assessed traditional Sanger-based sequencing (in 2011) and exome sequencing followed by targeted bioinformatics analysis (in 2012) for five different conditions that are highly heterogeneous, and for which our center provides molecular diagnosis. We find that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders. For microsatellite-stable colorectal cancer, this was low under both strategies. Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost.
机译：大规模并行测序的出现正在迅速改变用于涉及大量基因的罕见疾病的基因诊断和研究的策略。到目前为止，尚不清楚这些方法是否比临床医生要求的常规单基因检测显着更好。这种传统诊断方法的当前产量取决于多种因素，其中包括基因特异性表型特征和特定基因参与的相对频率。为了评估发生在分子诊断中的范式转变的影响，我们评估了传统的基于Sanger的测序（2011年）和外显子组测序，然后针对高度异质的五个不同条件进行了靶向生物信息学分析（2012年）。我们中心提供分子诊断。我们发现，对于耳聋，失明，线粒体疾病和运动障碍，外显子组测序比Sanger测序具有更高的诊断率。对于微卫星稳定的结直肠癌，在两种策略下均较低。即使已经对所有可能由医生命令的基因进行了测试，外显子组捕获的更多基因仍将以极少的成本带来明显更高的诊断产量。

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