The clinical application and laboratory management of molecular genetic diagnosis in children's hospital

Wenjie Bao, Qihua Fu, Xiaoqing Zhang, Xi Mo, Tingting Yu
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Abstract

Background

Molecular diagnostic technology is the foundation of precision medicine, which has the advantages of good specificity, high sensitivity, strong targeting, rapiddiagnosis, etc. It has a wide range of applications in the field of pediatrics. However, molecular diagnostic technology is characterized by complicated experimental operation, high difficulty in data analysis and interpretation, in consistent standards among laboratories, and difficult standardization of technical processes. Enhancing the application value of molecular diagnostic technology in pediatrics and promoting the high-quality development of the discipline requires careful consideration by relevant management and professionals.

Methods

This study firstly outlines the development history of molecular diagnostic technology. Then, it analyzes the application of molecular diagnostic technology in the field of pediatrics. Finally, it explores the countermeasures for the management of molecular diagnostic laboratories.

Results

This study highlights the importance of molecular diagnostic technology in providing information and decision-making basis for disease prevention, prediction,diagnosis, treatment and regression. It has a wide range of applications in the molecular diagnosis of pediatric hereditary diseases, malignant tumors and infectious diseases. In addition, the countermeasures for the management of molecular diagnostic laboratories are proposed from the five aspects of laboratory, personnel team construction, standardized management,multidisciplinary cross-discipline, research and translation, safety managementand ethical supervision, and management upgrading and modernization.

Conclusions

Molecular diagnostic technology, as the basis of precision medicine, has become one of the important frontier fields in the development of contemporary pediatric medicine. Enhanced laboratory capacity in molecular diagnostic techniques can improve outcomes in the prevention, prediction, diagnosis, treatment, prognosis and research of pediatricdiseases, and lay the groundwork for child healthcare.

Abstract Image

儿童医院分子遗传学诊断的临床应用和实验室管理
背景 分子诊断技术是精准医学的基础,具有特异性好、灵敏度高、靶向性强、诊断迅速等优点。它在儿科领域有着广泛的应用。然而,分子诊断技术具有实验操作复杂、数据分析解读难度高、实验室间标准不统一、技术流程难以标准化等特点。提高分子诊断技术在儿科的应用价值,促进学科的高质量发展,需要相关管理部门和专业人员的深思熟虑。 方法 本研究首先概述了分子诊断技术的发展历程。然后,分析分子诊断技术在儿科领域的应用情况。最后,探讨分子诊断实验室的管理对策。 结果 本研究强调了分子诊断技术在为疾病预防、预测、诊断、治疗和康复提供信息和决策依据方面的重要性。它在小儿遗传性疾病、恶性肿瘤和传染病的分子诊断中有着广泛的应用。此外,还从实验室、人才队伍建设、规范化管理、多学科交叉、研究与转化、安全管理与伦理监督、管理升级与现代化五个方面提出了分子诊断实验室的管理对策。 结论 分子诊断技术作为精准医学的基础,已成为当代儿科医学发展的重要前沿领域之一。提高分子诊断技术的实验室能力,可以提高儿科疾病的预防、预测、诊断、治疗、预后和研究的效果,为儿童医疗保健奠定基础。
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