人工智能快速全基因组自动分析系统在新生儿/儿童重症监护室的应用

Application of the artificial intelligence-rapid whole-genome sequencing diagnostic system in the neonatal/pediatric intensive care unit

摘要:

新生儿重症监护室及儿童重症监护室患儿是遗传性疾病的高发人群，对遗传性疾病早期快速的病因诊断并针对性给予干预措施可以降低患儿病死率或不同程度改善预后。全基因组测序（whole exome sequencing，WGS）因涵盖点突变、拷贝数、内含子区域的各种结构及重组变异等更为全面的信息，已成为遗传性疾病有力的诊断工具之一。但测序数据获取后需要极高专业性的判读和解释，数周才能返回为临床所用，无法满足病情快速进展的儿童遗传性疾病的诊治需求。该文拟针对快速WGS在新生儿/儿童重症监护室的临床应用进行介绍，并对1个快速、高吞吐量、自动提供遗传疾病诊断的平台，即人工智能快速全基因组自动分析诊断系统的相关技术进行简述。该诊断系统将人工智能引入WGS后数据的处理，从时间上和功能上解决了常规基因组测序解读周期长及解读专业性依赖的现状，可在24 h内为疑似遗传病重症患儿提供快速的诊断方案，值得临床应用推广。

Abstract:

Pediatric patients in the neonatal intensive care unit (NICU) and the pediatric intensive care unit (PICU) have a high incidence rate of genetic diseases, and early rapid etiological diagnosis and targeted interventions can help to reduce mortality or improve prognosis. Whole-genome sequencing covers more comprehensive information including point mutation, copy number, and structural and rearrangement variations in the intron region and has become one of the powerful diagnostic tools for genetic diseases. Sequencing data require highly professional judgment and interpretation and are returned for clinical application after several weeks, which cannot meet the need for the diagnosis and treatment of genetic diseases in children. This article introduces the clinical application of rapid whole-genome sequencing in the NICU/PICU and briefly describes related techniques of artificial intelligence-rapid whole-genome sequencing diagnostic system, a rapid high-throughput automated platform for the diagnosis of genetic diseases. The diagnostic system introduces artificial intelligence into the processing of data after whole-genome sequencing and can solve the problems of long time and professional interpretation required for routine genome sequencing and provide a rapid diagnostic regimen for critically ill children suspected of genetic diseases within 24 hours, and therefore, it holds promise for clinical application.