作者：陈伟1，何裕隆1,2

单位：1.中山大学附属第一医院 胃肠外科，广东 广州 510080； 2.中山大学附属第七医院(深圳) 消化医学中心，广东 深圳 518000

Authors:  CHEN Wei1, HE Yulong1,2

Unit:  1. Gastrointestinal Surgery, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, Guangdong, China; 2. The Center of Digestive Disease, the Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen 518000, Guangdong, China

摘要：

肿瘤"精准医学"的概念自提出以后,逐渐风靡全球,国内大型医院纷纷建立起"精准医学中心",布局高通量测序(NGS)。然而,NGS在肿瘤临床中的应用并不顺利。由于NGS肿瘤测序技术复杂、迭代迅速,其临床应用将长期处于探索性阶段;NGS测序仪具有强大的数据生产能力,通过大样本平行检测能够显著降低测序成本。上述两个原因导致医院不适于自建NGS测序平台。相反,NGS数据的临床解读和应用是目前最为欠缺,也是最值得医院努力的方向。为了应对基因组大数据的挑战和推动NGS的临床应用,"精准医学"需要专科化,发挥NGS数据生产与数据临床应用之间的桥梁作用。临床NGS专业人才匮乏是制约其应用的薄弱环节,重视NGS临床人才培养、加强学科建设是当务之急。NGS教育应不仅包括执业医生的继续教育,还应该积极布局本科、研究生等的基础教育,为NGS临床应用提供广泛的人才基础。通过医院、第三方测序公司的合理分工和密切协作,再加上医学院校的NGS人才培养,才能推动NGS在临床肿瘤中的广泛应用。

关键词：高通量测序; 肿瘤; 临床应用; 精准医学; 基因组医学; 靶集

Abstract：

After the proposal of “precision medicine” in oncology, it is widely accepted worldwide. Big hospitals in China set up their own “Precision Medicine Center” and begin to translate Next Generation Sequencing (NGS) technology into the clinic. However, the application of NGS in the clinical oncology is not proceeding smoothly. Because of the complexity and the quick renewal of NGS technologies in oncology, NGS could only be used experimentally in the predictable future. In addition, the latest NGS sequencers are very powerful in terms of data production, favoring simultaneously analysis of hundreds and thousands of samples at low cost. Because of the above facts, hospitals are not competitively enough to run an NGS platform by themselves. Alternatively, the interpretation and application of NGS data in the clinic is lagged far behind, and it’s where the hospital resources should be devoted. To cope with the challenges of the big data produced by NGS, a new specialized department of precision medicine needs to be created, which will bridge the gap between NGS data production and its clinical application. The shortage of NGS specialists in the clinic is a weak point, highlighting the needs of training and specialization. This NGS training is not restricted to the practicing physicians, but also includes basic education for undergraduate and graduate students, which may form a solid base for clinical NGS application. With the cooperative efforts from the hospitals, independent NGS diagnostic testing facilities and medical schools, the NGS will see increasing prosperity in the future.

Key Words:  Next Generation Sequencing (NGS); Oncology; Clinical application; Precision medicine; Medical genomics; NGS panel