“5G+区块链”赋能植入前遗传学检测技术用于罕见病的精准防控  

"5G + Blockchain"--enabled preimplantation genetic testing for precise prevention and control of rare disease

作　　者：蔡丽君 陈松长[2] 徐晨明[2] 黄荷凤 金丽 Cai Lijun;Chen Songchang;Xu Cheruning;Huang Hefeng;Jin Li(Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;International Peace Maternity & Child Health Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200030,China;Reproductive and Developmental Research Institute of Fudan University,Shanghai 200129,China; Obstetrics & Gynecology Hospital ofFudan University,Shanghai 200011,China)

机构地区：[1]上海交通大学医学院,200025 [2]上海交通大学医学院附属国际和平妇幼保健院,200030 [3]复旦大学生殖与发育研究院,上海200129 [4]复旦大学附属妇产科医院,上海200011

出　　处：《中华生殖与避孕杂志》2021年第6期486-495,共10页Chinese Journal of Reproduction and Contraception

摘　　要：罕见遗传病作为出生缺陷的重要组成,是我国乃至全球所面临的严峻挑战。联合诊断单基因病和染色体病非整倍体高通量测序与连锁分析(mutated allele revealed by sequencing with aneuploidy and linkage analyses, MARSALA)新策略下,以下一代测序(next generation sequencing,NGS)为核心技术的胚胎植入前遗传学检测(preimplantation genetic testing,PGT)作为一种经济且有效的一级防控措施在阻断罕见遗传病的发生上发挥重要作用。随着第五代移动通信技术(5th generation mobile networks,5G)商业化时代的到来,5G结合区块链技术给PGT精准控制罕见遗传病带来了新的发展方向。本文总结目前PGT技术用于控制罕见病的发展现状,基于5G和区块链技术,提出建设基于“5G+区块链”的基因诊断云服务平台、远程协同诊疗平台、中国人群基因组突变数据库的设想,试图把握5G时代红利使我国罕见遗传病的精准防控走在国际前沿水平。Based on next generation sequencing, preimplantation genetic testing (PGT), with novel strategy of mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) is an economic and effective primary measure to control rare diseases by helping patients to select embryo free of monogenic diseases and aneuploidy (chromosome abnormality). With the commercialization of 5th generation mobile networks (5G) technology, "5G+blockchain" has brought a new development trend to PGT in the field of accurately control rare diseases. Therefore, in the present study, we summarize the current status of PGT and the characteristics of 5G and blockchain, then propose a plan to build a genetic diagnosis cloud service platform, a collaborative diagnosis and treatment platform for rare diseases, and a gene mutation database of Chinese population genetic disease, based on technology of 5G and blockchain in order to grasp the bonus of 5G era and promote the development of prevention and control of rare disease.

关 键 词：第五代移动通信技术 区块链 胚胎植入前遗传学检测 防控 遗传 罕见病 下一代测序 

分 类 号：R596[医药卫生—内科学]