【摘要】：二代測序技術不僅在生命科學基礎研究中發(fā)揮越來越重要的作用,也開始進入臨床應用,為多種疾病診斷、治療方案選擇、預后監(jiān)控等提供重要信息。論文采用問卷調研等方式,對二代測序進入我國無創(chuàng)產前檢測,腫瘤,遺傳病與罕見病,胚胎植入前篩查與診斷、器官移植以及流行病控制等6個主要的領域進行了系統(tǒng)調查研究。本工作向參與2014年5月至2014年12月期間在我國召開的13場轉化醫(yī)學專業(yè)學術會議的醫(yī)學科研工作者,轉化醫(yī)學工作者,第三方檢測機構,臨床醫(yī)生和終端消費者等群體發(fā)放問卷4000份,共回收2380份,共獲得有效數(shù)據(jù)3797條。運用SWOT方法分析發(fā)現(xiàn),二代測序在腫瘤檢測、遺傳病與罕見病臨床檢測方面,雖然醫(yī)院等臨床機構的使用今后將持續(xù)增長,但在相當一段時間內,由于臨床醫(yī)生和終端消費者對二代測序技術診斷、治療的意義了解較少,同時二代測序操作、數(shù)據(jù)分析的復雜性、以及成本等因素,將長期限制其在這些領域的廣泛應用,樣品將主要委托第三方檢測進行檢查。而對于無創(chuàng)產前檢測將由目前主要委托第三方檢測機構檢測,轉變?yōu)橹饕舍t(yī)院自行檢測;未來,在醫(yī)學臨床應用領域,二代測序技術的發(fā)展趨勢將由追求高通量和低成本轉變?yōu)樽⒅夭僮骱啽慊�、自動化和高靈活性。二代測序技術在胚胎植入前篩查與檢測、器官和骨髓移植以及流行病控制等臨床領域應用的調研發(fā)現(xiàn),相關醫(yī)療機構工作人員、病人對二代測序技術相關知識的缺乏是制約其普及應用的主要因素之一。以臨床成功應用案例為主的宣傳、介紹,可能比單純技術介紹與支持能起到更好的效果。隨著二代測序技術的不斷發(fā)展、完善,該技術會在不遠的將來成為無創(chuàng)產前檢測、腫瘤診斷治療、胚胎植入前篩查與檢測、器官和骨髓移植以及流行病控制等領域不可或缺的常規(guī)檢查手段,將大大提升我國醫(yī)療水平。對于二代測序技術這一快速發(fā)展新興技術,國家相關職能部門一方面應盡快頒布對該技術的管理法規(guī)與制度,確保其在臨床應用領域的健康發(fā)展,同時,加強對廣大醫(yī)務工作者的宣傳普及,讓更多的醫(yī)務工作者熟練運用該技術服務病人,將有效提升相關領域的診斷準確性與治療效果,降低治療成本,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.
【學位授予單位】：上海交通大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R440

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