二代测序技术在中国临床医学领域应用的调查与研究

发布时间：2019-04-26 00:57

【摘要】：二代测序技术不仅在生命科学基础研究中发挥越来越重要的作用,也开始进入临床应用,为多种疾病诊断、治疗方案选择、预后监控等提供重要信息。论文采用问卷调研等方式,对二代测序进入我国无创产前检测,肿瘤,遗传病与罕见病,胚胎植入前筛查与诊断、器官移植以及流行病控制等6个主要的领域进行了系统调查研究。本工作向参与2014年5月至2014年12月期间在我国召开的13场转化医学专业学术会议的医学科研工作者,转化医学工作者,第三方检测机构,临床医生和终端消费者等群体发放问卷4000份,共回收2380份,共获得有效数据3797条。运用SWOT方法分析发现,二代测序在肿瘤检测、遗传病与罕见病临床检测方面,虽然医院等临床机构的使用今后将持续增长,但在相当一段时间内,由于临床医生和终端消费者对二代测序技术诊断、治疗的意义了解较少,同时二代测序操作、数据分析的复杂性、以及成本等因素,将长期限制其在这些领域的广泛应用,样品将主要委托第三方检测进行检查。而对于无创产前检测将由目前主要委托第三方检测机构检测,转变为主要由医院自行检测;未来,在医学临床应用领域,二代测序技术的发展趋势将由追求高通量和低成本转变为注重操作简便化、自动化和高灵活性。二代测序技术在胚胎植入前筛查与检测、器官和骨髓移植以及流行病控制等临床领域应用的调研发现,相关医疗机构工作人员、病人对二代测序技术相关知识的缺乏是制约其普及应用的主要因素之一。以临床成功应用案例为主的宣传、介绍,可能比单纯技术介绍与支持能起到更好的效果。随着二代测序技术的不断发展、完善,该技术会在不远的将来成为无创产前检测、肿瘤诊断治疗、胚胎植入前筛查与检测、器官和骨髓移植以及流行病控制等领域不可或缺的常规检查手段,将大大提升我国医疗水平。对于二代测序技术这一快速发展新兴技术,国家相关职能部门一方面应尽快颁布对该技术的管理法规与制度,确保其在临床应用领域的健康发展,同时,加强对广大医务工作者的宣传普及,让更多的医务工作者熟练运用该技术服务病人,将有效提升相关领域的诊断准确性与治疗效果,降低治疗成本,造福病患。
[Abstract]:The second generation sequencing technology not only plays a more and more important role in the basic research of life science, but also begins to enter clinical application. It provides important information for the diagnosis of various diseases, the choice of treatment schemes, the monitoring of prognosis and so on. By means of questionnaire and other methods, the second generation sequencing was carried out in China for non-invasive prenatal detection, tumor, genetic and rare diseases, pre-implantation screening and diagnosis. Organ transplantation and epidemic control were systematically investigated in six main fields. From May 2014 to December 2014, this work is intended for medical research workers, transforming medical workers and third-party testing organizations that participated in 13 academic conferences on transformational medicine held in China from May 2014 to December 2014. Clinicians, end consumers and other groups issued 4000 questionnaires, a total of 2380 recovered, a total of 3797 valid data. SWOT analysis showed that the second generation sequencing in tumor detection, clinical detection of genetic diseases and rare diseases, although the use of hospitals and other clinical institutions will continue to increase in the future, but in a considerable period of time, Because clinicians and end consumers know less about the significance of second-generation sequencing, and the complexity of second-generation sequencing, the complexity of data analysis, and the cost of data analysis, they will have a long-term limit to their extensive use in these areas. The sample will be subject to third-party testing. The non-invasive prenatal testing will be mainly commissioned by the third-party testing organizations, and transformed into mainly by the hospital self-testing; In the future, in the field of medical clinical application, the development trend of the second generation sequencing technology will change from pursuing high throughput and low cost to focusing on operation simplicity, automation and high flexibility. The application of second-generation sequencing technology in pre-implantation screening and testing, organ and bone marrow transplants, and epidemiological control has found that the staff of relevant medical institutions, Patients' lack of knowledge about the second generation sequencing technology is one of the main factors restricting its popularization and application. Publicity based on successful clinical application cases, introduction, may play a better role than simple technical introduction and support. With the continuous development and perfection of the second generation sequencing technology, the technology will become non-invasive prenatal detection, tumor diagnosis and treatment, pre-implantation screening and detection in the near future. Organ and bone marrow transplantation, epidemic control and other fields of routine examination, will greatly improve the level of medical care in our country. As for the rapid development of the second generation sequencing technology, on the one hand, the relevant national functional departments should promulgate the regulation and system of the technology as soon as possible to ensure its healthy development in the field of clinical application, at the same time, Strengthening the publicity and popularization of the vast number of medical workers and making more medical workers skilled in using the technology to serve patients will effectively improve the diagnostic accuracy and treatment effect in related fields, reduce the cost of treatment, and make the patients suffer from the disease.
【学位授予单位】：上海交通大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R440

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