主题：“新生儿学中的下一代测序：对下一代意味着什么？”
Re: "Next generation sequencing in neonatology: what does it mean for the next generation?".
机构信息
Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
出版信息
Hum Genet. 2023 Feb;142(2):161-164. doi: 10.1007/s00439-022-02498-x. Epub 2022 Nov 10.
Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill neonates to cases of predicted high diagnostic yield. Such testing is best positioned to improve neonatal care when test utilization is conceptualized within the total care of the family with a goal of rapid resolution of the diagnostic odyssey.
现有证据并不支持将快速或超快速外显子组或基因组测序的应用局限于预计具有高诊断收益的危重新生儿病例。当将测试利用与家庭的全面护理相结合，并以快速解决诊断难题为目标时，此类测试最有利于改善新生儿护理。
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