Under the director, deputy director and secretary general of Taipei Veterans General Hospital, there are 28 departments, 6 centers and 2 offices at the first level of business units. The Metabolism and Molecular Genetics Laboratory is set up under the Department of Pediatrics and is led by Director Niu Daoming to carry out various inspection services. Since the neonatal screening was launched in 1984, Taipei Veterans General Hospital has undertaken the neonatal screening diagnosis business and started multiple gene tests. It is currently responsible for two-thirds of the neonatal screening diagnosis work in Taiwan. In addition to the new screening diagnosis gene test items, the laboratory also accepts commissioned gene test items related to genetic diseases from inside and outside the hospital. Under the leadership of the director and the joint efforts of colleagues, it passed the review of the designated inspection agency for genetic and rare diseases by the Ministry of Health and Welfare’s National Health Agency (14 diseases and 18 genes) in 2015, and also passed the re-examination in 2022. And passed the TAF ISO-15189 medical laboratory certification in June 2021. In addition, we are also designated as the core laboratory of Taipei Veterans General Hospital Precision Medicine and Genome Center.

The laboratory work content includes four major items, namely gene detection, specimen processing, personnel training and research and development. The most important task among them is gene detection, which provides accurate and reliable gene reports to help doctors diagnose. The gene detection part of the work is currently in response to the needs of high-throughput and precision medicine. In addition to sanger sequencing analysis, the laboratory has also developed a number of next-generation gene detection kits and whole gene sequencing analysis. In the specimen processing part, in order to efficiently receive and send specimens, the laboratory also planned the laboratory’s information system to avoid human errors affecting the quality of specimens and the timeliness of report output. In terms of personnel training, because we are a certified laboratory, all personnel who operate experiments and issue gene reports must receive certification-related training to ensure that all gene detection procedures are operated in accordance with certification standards. In terms of quality control, toxicant management and other aspects, they are carried out or handled in accordance with regulations. In addition, in terms of research and development, we also carry out a number of research projects and develop new generation testing technologies.

The geographical location of the laboratory is located in the Zhide Building and Technology Building of Taipei Veterans General Hospital. The Zhide Building laboratory mainly performs sanger single gene sequencing tests, while the Technology Building mainly performs next-generation gene sequencing, whole genome sequencing and research and development related work.

The laboratory members are composed of Director Niu as the host, leading us to perform various inspection services and acting as the gene report signer. I and Yan Jingci medical examiner are responsible for managing the laboratory gene testing, quality, administration and research and development work. The gene testing group is responsible for performing Sanger sequencing, next-generation sequencing and whole-genome sequencing analysis. There are currently nine members in the group, eight of whom are medical examiners. Xie Yuping medical examiner is responsible for supervising the inspection work of the inspection group. Dr. Chen Yunru is mainly responsible for the analysis and system development of whole-genome sequencing data. In addition, the genetic counseling group is composed of Zheng Zhiya genetic counselor who is responsible for integrating the report review after the case return visit and genetic counseling related business. All inspection work must be trained and completed in accordance with the certification standards before performing clinical inspection operations, and regularly receive internal quality control and inter-laboratory comparison. The research and development group is responsible for implementing the content of the research plan. There are currently five members in the group. Although the research group does not perform clinical business, they have all received gene testing related training and completed the assessment.