核酸质谱技术的药物基因组学研究进展

Advances in pharmacogenomics of nucleic acid mass spectrometry

药物基因组学作为精准医疗的落地平台备受关注,其中多重药物基因检测指导精准用药已被大规模临床研究证实具有可行性,并且有助于改善患者预后。作为多重基因检测关键技术之一的基于基质辅助激光解析电离飞行时间质谱的核酸质谱技术以其中通量、高灵活性、高准确度、低成本等特点,在多重药物基因检测领域具有独特优势。该文介绍了核酸质谱技术原理和特点,以及该技术在多重药物基因检测中的优势,并重点综述了核酸质谱多重药物基因检测在精神神经类、心脑血管类、镇痛麻醉类、肿瘤类及老年多重用药等药物基因组学领域的临床研究和应用现状。未来通过完善核酸质谱检测标准化流程和规范,与测序技术联合应用,并将核酸质谱多基因检测与临床多模态数据整合分析,有望进一步助力核酸质谱多重基因检测技术在临床精准用药中的应用与实施。

Pharmacogenomics,as a platform for precision medicine,has attracted much attention.The feasibility of multiple drug gene testing to guide precision medicine has been confirmed by large-scale clinical studies,and it is helpful to improve the prognosis of patients.As one of the key technologies for multiplex genetic testing,matrix assisted laser desorption/ionization time-of-flight mass spectrometry has unique advantages in the field of multiplex drug gene testing due to its high throughput,high flexibility,high accuracy and low cost.This article introduces the principle and characteristics of nucleic acid mass spectrometry,as well as the advantages of this technology in multiple drug gene detection,and focuses on the clinical research and application status of nucleic acid mass spectrometry multiple drug gene detection in the fields of pharmacogenomics such as psychoneuropathy,cardiovascular and cerebrovascular diseases,analgesia and anesthesia,cancer and polypharmacy in the elderly.In the future,by improving the standardized process and specification of nucleic acid mass spectrometry testing,combined application with sequencing technology,and integrated analysis of nucleic acid mass spectrometry multi-gene testing and clinical multimodal data,it is expected to further promote the application and implementation of multi-gene testing by nucleic acid mass spectrometry in clinical precision medicine.