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首页> 外文期刊>The Journal of molecular diagnostics: JMD >Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics.
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Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics.

机译：全基因组阵列比较基因组杂交：产后临床细胞遗传学的首选诊断选择。

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In the November issue of The Journal of Molecular Diagnostics, we published a Commentary to a Review by Drs. Bejjani and Shaffer regarding the use of genomic mi-croarrays in diagnosis. We appreciated the open discussion and felt it would be appropriate to respond to the section that Drs. Bejjani and Shaffer wrote in response to our Commentary.The primary difference between our approach and that of Drs. Bejjani and Shaffer concerns the type of microarray to use. They opt for a small genomic microarray targeting chromosomal regions of known clinical significance, whereas we have implemented whole-genome copy-number profiling in the diagnostic screening of patients with unexplained mental retardation and/or congenital abnormalities. In their response, it is argued that the differences are chronological rather than conceptual. We can only agree with this; however, we feel that their arguments should also be seen within the context of their commercial setting. In comparison with a targeted array, the whole-genome approach is more expensive and requires more laboratory expertise, and the molecular and clinical interpretation is more complex and time-consuming. These notions, however, do not argue against a whole-genome approach; they just point out that this approach is difficult to implement in a commercial setting without direct access to patients and their families. Aided by proper clinical interpretation, counseling, and parental analyses, completely normal procedures in routine cytogenetics, the application of whole-genome arrays will result in a significantly higher diagnostic yield compared with targeted arrays. This yield is likely to increase even further with the recent availability of ultra-high density genome-wide oligonucleotide-based microarrays, which will soon allow the detection of all genomic copy number variations larger than 1 to 10 kb in the human genome. Drs. Bejjani and Shaffer state that "diagnostic laboratories should always remain at least one step behind the cutting edge of research."3 in contrast, it is our strong conviction that research technoiogies should be implemented in diagnostics as soon as they have demonstrated their added value, thus providing the best patient care available. In the eariy 1970s, implementation of chromosome banding techniques in clinical medicine dramatically enhanced the diagnostic yield for many disorders.4'5 Also through this technology, observations with unknown clinical relevance were initially made, ie, differences in the length of chromosome bands, small marker chromosomes, and inversion chromosomes. This did not keep the medical world from implementing banding techniques then, nor should it do so now for the microarray-based whole-genome approach.
机译：在《分子诊断学杂志》 11月号中，我们发表了《 Drs。的评论评论》。 Bejjani和Shaffer关于基因组微阵列在诊断中的用途。我们感谢公开讨论，并认为应该回应Dr. Bejjani和Shaffer在回应我们的评论时写道：我们的方法与Drs。 Bejjani和Shaffer关注使用的微阵列类型。他们选择了靶向基因组区域已知的具有临床意义的小型基因组微阵列，而我们已经在对无法解释的智力低下和/或先天性异常的患者进行诊断筛查中实施了全基因组拷贝数分析。他们在回应中认为，差异是按时间顺序而不是概念上的。我们只能同意这一点;但是，我们认为，他们的论点也应该在其商业背景下予以考虑。与目标阵列相比，全基因组方法更昂贵且需要更多的实验室专业知识，分子和临床解释更复杂且耗时。但是，这些概念并不反对采用全基因组方法。他们只是指出，如果没有直接与患者及其家人联系，这种方法很难在商业环境中实施。在适当的临床解释，咨询和父母分析，常规细胞遗传学中完全正常的程序的辅助下，与靶向阵列相比，全基因组阵列的应用将产生更高的诊断率。随着最近可获得的超高密度全基因组寡核苷酸微阵列，该产量可能会进一步提高，这将很快允许检测人类基因组中所有大于1至10 kb的基因组拷贝数变异。博士Bejjani和Shaffer指出“诊断实验室应始终保持领先于研究前沿至少一步之遥。” 3相反，我们坚信，一旦研究技术证明其附加值，便应在诊断学中实施研究技术，从而提供最佳的患者护理。在1970年代初期，在临床医学中采用染色体谱带技术显着提高了许多疾病的诊断率。4'5同样，通过这项技术，最初进行了临床相关性未知的观察，即，染色体谱带长度的差异很小。标记染色体和倒置染色体。那时，这并没有阻止医学界实施带状技术，现在也不应该对基于微阵列的全基因组方法实施这种技术。

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