The yield of genetic testing methods has dramatically improved within the past few years, enabling the identification of genetic causes in common as well as rare and unusual phenotypes in an increasing proportion of patients. Thus, genetic testing has become part of the routine diagnostic workup for many disorders. The studies by Tan et al¹ and Berg et al² in this issue of JAMA Pediatrics demonstrate the dramatic effect of the diagnostic yield of different genetic testing approaches on cost-effectiveness and the potential design of testing strategies in children with suspected monogenic conditions.

中文翻译：

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高通量测序作为先天性和早发性疾病的一级诊断

在过去的几年中，基因检测方法的产率有了显着提高，使得能够在越来越多的患者中识别常见，罕见和异常表型的遗传原因。因此，基因检测已成为许多疾病常规诊断检查的一部分。Tan等人¹和Berg等人²在本期JAMA儿科学中的研究表明，不同基因测试方法的诊断产量对成本效益的巨大影响，以及可疑单基因病患儿的测试策略的潜在设计。