ZHONGGUOSHIRENLEIJIYINZUJIHUA(Human Genome Project，HGP)DELIUGECANYUGUOZHIYI，WEIMIAOHUIBAOHAN30YIGEJIANJIDUIDERENLEIJIYINZUTUPU、POYIRENLEIYICHUANXINXIZUOCHULEZHONGYAOGONGXIAN。ZHEIYEWEIZHONGGUOFAZHANJIYINJIANCEXINGYEDIANDINGLEJIANSHIJICHU。

　　“SHIERWU”SHIQISHIZHONGGUOJIYINJIANCEXINGYEGAOSUFAZHANDEZHONGYAOSHIQI，JUYOULICHENGBEISHIDEYIYI。QIJIAN，ZHONGGUOJIYINJIANCEJISHUCHIXUQUDEXINDETUPO，YINGYONGFANWEIBUDUANTUOZHAN。XINGYEJINGZHENGLIJINYIBUZENGQIANG，JIANCEFUWUNENGLIYUEJUSHIJIEQIANLIE，GUOJIHUAFAZHANSHUIPINGWENBUTIGAO。ZAIZHENGCEFAGUIZHUBUWANSHANHEZIBENSHICHANGDETUIDONGXIA，ZHONGGUOJIYINJIANCESHICHANGGUIMOXUNSUKUOZHANG，SHOUDAOQUANQIUZHUMU。

　　YI、JIYINJIANCEJISHUCHENGXIAN“SANFENTIANXIA”GEJU

　　JIYINJIANCESHIDUIHESUAN(DNAHUORNA)JINXINGJIANCEDEJISHU。MUQIAN，ZHONGGUOJIYINJIANCEDEZHUYAOJISHUYOUJIYINCEXU、JIYINXINPIANHEJUHEMEILIANSHIFANYINGJISHU(PCR)DENG，GEXIANGJISHUJUNZAIJIYINJIANCEZHONGHUODEYIDINGYINGYONG，ZONGTICHENGXIAN“SANFENTIANXIA”DEGEJU。QIZHONG，JIYINCEXUZHUYAOYINGYONGYUKEXUEYANJIUYIJIWUCHUANGCHANQIANZHENDUAN(TANGSHISHAICHA)、ZHONGLIUJIYINJIANCE、YIGANJIYINSHAICHADENGLINCHUANGYINGYONG;JIYINXINPIANZHUYAOYINGYONGYUXINSHENGERSHAICHA、CHANQIANZHENDUAN、XIEDAIZHESHAICHA、YAOWUDAIXIEJIYINJIANCE、YIGANJIYINJIANCEDENG;PCRJIQIXIANGGUANJISHUYIGUANGFANYINGYONGYULINCHUANGHEYANJIU，ZHUYAOYONGYUZHONGLIU、YICHUANBING、DAIXIEXIANGGUANDESHAOLIANGWEIDIANDEJIANCE。

　　ER、DIERDAICEXUJISHUCHUYUQUANQIU**FANGZHEN

　　JIYUZAIRENLEIJIYINZUJIHUAZHONGDEGONGZUOJICHU，GUOJIAJILEILEDALIANGJISHUHEZILIAO，BINGJIANLILEZIJIDEJISHURENCAIDUIWU，WEIZHONGGUOFAZHANJIYINCEXUJISHUDIANDINGLEJIANSHIJICHU。JINNIANLAI，ZAIJIYINJIANCEJISHUFAZHANRIXINYUEYI，ZHONGGUOKEYANRENYUANBUDUANKAITUOJINQU，ZAIYINGYONGFANWEI*GUANGDEERDAICEXUJISHULINGYUBUDUANQUDETUPO，JIBENYUSHIJIEXIANJINSHUIPINGXIANGDANG。

　　“SHIERWU”YILAI，GUONEIQIYEYUYANFAJIGOUBAWOJIYINCEXUJISHUFAZHANQUSHI，JIJIJINXINGJISHUKAIFAHESHEBEIYANZHI，YIDAPOOUMEIQIYEZAISHANGYOUCEXUYIQIJISHIJIZHIZAODELONGDUAN。ZIXINYAOYEYUZHONGGUOKEXUEYUANHEZUOKAIFADIERDAICEXUYIBIGIS，ZHEISHIGUONEI**KUANJUYOUZIZHUZHISHICHANQUANDESHIYONGXINGGUOCHANDIERDAICEXUYI，NENGGOUDADAOHEBUFENCHAOYUEGUOJIZHULIUSHEBEIJISHUZHIBIAO，CHENGBENDIYUJINKOUSHEBEIDE1/2YISHANG，YINGYONGCHENGBENDIYUJINKOUSHEBEIDE1/3YISHANG。ZIXINYAOYEYIYUZHONGGUOJIANYANJIANYIYANJIUYUAN、BEIJINGDAXUERENMINYIYUAN、BEIJINGCHURUJINGJIANYANJIANYIJUDENGDANWEIQIANDINGLESHIYONGXIEYI，KAISHILEGAICEXUYIDEDUOLINGYUYINGYONG。HUADAJIYINSHENGCHANDEBGISEQ-1000、BGISEQ-100、BIGISEQ-500JIYINCEXUYI，SHUDIERDAICEXUYI，QIZHONGBGISEQ-1000、BGISEQ-100YIHUODECFDASHENPI，JINRUSHICHANG。CIWAI，HUADAJIYINHAIKAIFALEJIYUMDADEDANXIBAOCEXUJISHU，GAIJISHUSHUDISANDAICEXUJISHU，BUJINJUYOUGENGGAODEFENBIANLVHEJIYINZUFUGAIDU，ERQIEJUYOUGENGHAODEMINGANXINGHETEYIXING。ZHONGGUODIERDAICEXUJISHUCHUYUQUANQIULINGPAOWEIZHI，BUJINDAIDONGLEGUONEIZHENGGEJIYINJIANKANGCHANYEDEFAZHAN，HAIJIANGJIAQIANGZHONGGUOJIYINCEXUJISHUCHANYEDEGUOJISHICHANGJINGZHENGLI，BAOZHANGGUOJIASHENGWUXINXIANQUAN。

　　SAN、LONGTOUQIYEJIYINCEXUFUWUNENGLIJUQUANQIU**

　　CONGCEXUYIQIDESHULIANGLAIKAN，ZHONGGUOYONGYOUERDAICEXUYIDESHULIANGJINCIYUMEIGUO。CHENGLIYU1999NIANDEHUADAJIYIN，SHIGUOJIANAIZHIQUANQIUJIYINCEXUXINGYEDEPAITOUBING，SHIQUANQIU*DADEJIYINZUXUEYANFAJIGOU，YESHISHIJIESHANGYONGYOUERDAIJIYINCEXUYI*DUODEJIGOU。QIYONGYOUYUE137TAIHiseq，3TAIMiseq，27TAISolid，DUOTAIProton，GONGYUE178TAIDIERDAICEXUYI，YUEZHANGUONEIZONGLIANGDE2/3。JIEZHI2015NIAN，HUADAJIYINYICHENGWEIQUANQIU*DADEJIYINCEXUGONGSI，TONGSHIYONGYOU*DADESHUJUKU，QIJIYINJISHUYIYINGYONGYUYINGGUO、AODALIYA、XIBANYADENG60DUOGEGUOJIAHEDIQUDE2000DUOJIAYIYUANHUODANWEI，ZHANJUQUANQIU47%DECEXUSHICHANGFENE，SHIZHENZHENGYIYISHANGDE“CEXUHANGMU”。

　　SI、ZHONGGUOSHIQUANQIUJIYINJIANCESHICHANGGUIMOZENGZHANG*KUAIDEGUOJIAZHIYI

　　“SHIERWU”YILAI，JIYINJIANCEYIGENGGAODECEXUTONGLIANG、GENGGAODEJIANCEDEJINGDU、GENGJIAPINGMINHUADEJIANCEFEIYONG，KAISHIJIASUZOUJINRENMENDESHENGCHANSHENGHUO。JUMarkets and marketsGONGSITONGJI，QUANQIUJIYINJIANCESHICHANGFEISUFAZHAN，SHIDESHICHANGGUIMOXUNSUZENGZHANG，CONG2010NIANDE10DUOYIMEIYUANZENGZHANGDAO2014NIANDEJIN54YIMEIYUAN，NIANFUHEZENGZHANGLVCHAOGUO20%。QIZHONG，MEIGUOSUOZAIDEMEIZHOUDIQUSHIJIYINZUXUE*ZAOXINGSHENGDEDIQU，KEYANSHILIXIONGHOU，CHANYEZIYUANTOURUCHONGZU，JIYINJIANCEXINGYEFAZHANDEJIAOWEICHENGSHU，QIJIYINJIANCESHICHANGZENGZHANGLVWEI18%ZHI20%。OUZHOUDIQUYANFALILIANGJIAOQIANG，JIYINJIANCEZAIGAIDIQUFAZHANXUNSU，DANSHOUOUZHOUFUZADIYUQINGKUANGDEYINGXIANG，JIYINJIANCEFUWUGONGYINGSHANGDEYEWUFUGAIQUYUSHOUXIAN，YANFAZHUTIYEYIXIAOXINGHEXINJIGOU、XINXIFENXIXIAOZUDENGWEIZHU，OUZHOUJIYINJIANCESHICHANGZENGZHANGLVWEI12%ZHI16%，DIYUQUANQIUPINGJUNSHUIPING。ZAIYATAIDIQU，ZHONGGUO、RIBEN、HANGUO、YINDUDENGSHIZHUZHONGSHENGWUXINGYEJISHENGWUKEYANJICHUDEJINGJIDAGUO，JIJIFAZHANJIYINJIANCEXINGYE，KEJIYANFAHUODONGSHOUDAOXIANGDANGDEZHONGSHI。YOUGUANSHUJUXIANSHI，2012—2015NIANQIJIAN，ZHONGGUOJIYINJIANCESHICHANGNIANJUNZENGZHANGLVDADAO25%ZUOYOU，SHIQUANQIUZENGZHANG*KUAIDEGUOJIAZHIYI。

　　WU、JIYINJIANCEYIZAIKEYANFUWUHELINCHUANGYILIAOLINGYUHUODEYINGYONG

　　JIYINJIANCEMUQIANZHUYAOYINGYONGYUKEYANFUWU、LINCHUANGYILIAOHEXINYAOYANFALINGYU。JIYINCEXUZAIKEYANFUWULINGYUDEYINGYONGZHUYAOYOUHUANJINGWURANZHILI、SHENGWUDUOYANGXINGBAOHU、SHIPINJIZHONGYAOCAITONGYUANJIANDING、NONGMUYEYUZHONGJISIFAJIANDINGDENG。LINCHUANGYILIAOLINGYUZHUYAOYOUSHENGZHIJIANKANG、YICHUANBINGJIANCE、XINXUEGUANJIBINGYIJIYIXUEJICHUYANJIU，QIZHONGSHENGZHIJIANKANGHEYIXUEJICHUYANJIUSHIMUQIAN*ZHUYAODEYINGYONGLINGYU。JIYINCEXUZAIXINYAOYANFALINGYUZHUYAOYONGYUZHIDAOXINYAOYANFABINGJINXINGXINYAOPINGJIA。

　　MUQIANJIYINJIANCEDEYINGYONGZHUYAOHAISHIYIJICHUKEXUEYANJIUHESHENGZHIJIANKANGFUWUWEIZHU。TEBIESHIZAIWUCHUANGCHANQIANJIANCE(NIPT)HEXINSHENGERDANJIYINYICHUANBINGJIANCELIANGGEFANGMIAN，JISHUYINGYONGDEJILIBIJIAOCHENGSHU、ANQUANKEKAOCHENGDUGAO、JISHUJINGJIXINGJIAOHAO，JUBEILEDAFANWEIKAIZHANYINGYONGDEJICHU。

　　LIU、GUONEIXINGYEZHENGCEHUANJINGBUDUANWANSHAN

　　“SHIERWU”YILAI，ZHONGGUOXINGYEZHUGUANBUMENBUDUANWANSHANJIYINJIANCEXINGYEFAZHANHUANJING，ZHIDINGLEYIXILIECUJINXINGYEFAZHANDEZHENGCEFAGUI。2014NIAN,GUOJIAWEISHENGHEJIHUASHENGYUWEIYUANHUILIANTONGSHIPINYAOPINJIANDUGUANLIZONGJUJIAQIANGJIYINCEXUXINGYEJIANGUAN,GUIDINGJIYINJIANCEYIQI、ZHENDUANSHIJIHEXIANGGUANYIYONGRUANJIANDENGCHANPIN,XUJINGSHIYAOJIANZONGJUSHENPIZHUCE,BINGJINGWEISHENGJISHENGWEIPIZHUNJISHUZHUNRU，FANGKELINCHUANGYINGYONG。CIHOUFENBIEPIZHUNLEHUADAJIYIN、DAANJIYINHEBEIRUIHEKANGDENGQIYEDEJIYINCEXUYIJIWUCHUANGCHANQIANJIANCECHANPIN。2014NIANDIZHI2015NIAN，WEISHENGJISHENGWEIQUEDINGLEYIPIGAOTONGLIANGCEXUJISHULINCHUANGYINGYONGSHIDIANDANWEI，KAIZHANYICHUANBINGZHENDUAN、CHANQIANSHAICHAYUZHENDUAN、ZHIRUQIANPEITAIYICHUANXUEZHENDUAN、ZHONGLIUZHENDUANYUZHILIAODESHIDIANGONGZUO，BINGYINFALE《YAOWUDAIXIEMEIHEYAOWUZUOYONGBADIANJIYINJIANCEJISHUZHINAN(SHIXING)》HE《ZHONGLIUGETIHUAZHILIAOJIANCEJISHUZHINAN(SHIXING)》。2015NIAN6YUE，GUOJIAFAGAIWEIJUEDINGSHISHIXINXINGCHANYEZHONGDAGONGCHENGBAO，ZHONGDIANFAZHANJIYINJIANCEDENGXINXINGYILIAOJISHU，BINGJIANGZAI3NIANSHIJIANNEIJIANSHE30GEJIYINJIANCEJISHUYINGYONGSHIFANZHONGXIN，KUAISUTUIJINJIYINJIANCELINCHUANGYINGYONGYIJIJIYINJIANCEYIQISHIJIDEGUOCHANHUA。ZHEIYIXILIEZHENGCEJUCUO，SHIDELINCHUANGJIBIEDEJIYINCEXUCHANPINHEFUWUZHUBUZOUXIANGGUIFANHUA。

　　QI、ZIBENSHICHANGGAODUGUANZHU

　　SUIZHESHICHANGGUIMODEXUNSUKUOZHANGHEZHENGCEHUANJINGDEBUDUANYOUHUA，JIYINJIANCEXINGYEKAISHISHOUDAOZIBENSHICHANGGUANZHUHEQINGLAI。JUAIRUIZIXUNTONGJI，2011NIANZHI2015NIAN，ZHONGGUOJIYINCEXUXINGYELEIJIHUODE37BITOURONGZI，LEIJIPILUDETOUZIJINEWEI1.78YIMEIYUAN，QIZHONG2015NIANJIYINCEXUXINGYEHUODE16BITOUZI，PILUTOUZIJINE6608.5WANMEIYUAN，WEIYOUTONGJISHUJUYILAIDE*GAOZHI。

　　GENGJIAZHIDEYITIDESHI，ZHONGGUOJIYINCEXUXINGYELONGTOUQIYEDEHUADAJIYIN，YEBEIZIBENSHICHANGFENGKUANGZHUIZHU，2012—2015NIANJIAN，XIANGJIYOUSHUSHIJIAJIGOUCHENGWEIHUADAJIYINDEGUDONG，QIZHONGBUFAHEYUGAOLIN、SHENCHUANGTOU、RONGZHILIAN、ZHONGGUORENSHOU、RUANYINDENGSHUXIDESHENYING。2015NIAN12YUE，HUADAJIYINYI2456WANDENIANLIRUNRUIPOCHUANGYEBANPAIDUIXULIE。ERZAIIPOQIANDE*HOUYILUNRONGZIZHONG，TADEGUZHIGAODA200YI，SHIYINGLVGAODA814BEI。

　　BA、XINGYEJINGZHENGLIZHUBUZENGQIANG

　　CONGJIYINJIANCEXINGYEDECHANYELIANKAN，ZHONGGUOZHENGZHUBUCONGZHONGXIAYOUXIANGSHANGYOUJINJUN。MUQIAN，JIYINJIANCECHANYELIANSHANGYOUJIBENBEIGUOWAIQIYESUOLONGDUAN，GUONEIQIBUJIAOZAODEZHUDUOQIYEJUNXUANZESHIYONGWAIGUOGONGSITIGONGDEYIQIHESHIJI，HUOYUGUOWAIGONGSIDACHENGHEZUO，ZHIYOUSHAOSHUJIJIAQIYEZHENGZAIZIZHUYANFAYIQI。GUONEICEXUQIYEDUOJIZHONGYUZHONGYOU，XINGCHENGLE“CEXUGONGCHANG”。JINJINIAN，GUONEITIGONGJIYINCEXUFUWUDEJIGOUCHENGXIANZHUNIANZENGZHANGDEQUSHI，MUQIANYIYOUCHAOGUO150JIAQIYEHEJIGOUCONGSHIJIYINCEXUXIANGGUANYEWU，ZHUYAOYOUHUADAJIYIN、BEIRUIHEKANG、DAANJIYIN、DIANZHENDUAN、QIANSHANYAOJI、YAOMINGKANGDE、ZHONGYUANXIEHE、XINKAIYUAN、BEILUYAOYE、QIANYUANYIYAODENG，JINGZHENGXIANGDUIBIJIAOJILIE。

　　JINGUANJIYINCEXUSHEBEIMUQIANRENGYOUGUOWAILONGDUAN，DANGUONEIQIYEYIJINGTONGGUOGEZHONGFANGSHIYANFAHESHENGCHANJIYINCEXUSHEBEI，SHIXIANCHANYELIANSHANGYI。SHOUXIANSHIZIZHUYANFA，RUZIXINYAOYETONGZHONGKEYUANHEZUOKAIFADEERDAICEXUSHEBEIBIGISXILIECHANPIN，HUAYINKANGKAIFADEJIYINCEXUYIHYK-PSTAR-IIA;QICISHISHOUGOUGUOWAIQIYEHEJISHU，RUHUADAJIYINYU2013NIANSHOUGOUMEIGUOComplete GenomicsGONGSI，HUOQUCGGONGSIJIYINCEXUSHEBEIZHISHICHANQUAN，KAIFAGUOCHANSHEBEI;ZAICISHIHEZUOKAIFA，RUBEIRUIHEKANGHEIlluminaHEZUOKAIFADEJIYINCEXUYINext Seq CN500。GUONEICEXUQIYENULITANSUOBINGZHANGWOLEHEXINJISHU，XINGYEJINGZHENGLIBUDUANZENGQIANG。

　　JIU、GUOJIHUAFAZHANSHUIPINGWENBUTIGAO

　　ZHONGGUOZUOWEIRENLEIJIYINZUJIHUADECANYUGUOZHIYI，JIYINJIANCEXINGYEXINGCHENGYISHI，JIUSHIYIGEYUGUOJIJIEGUIDEXINGYE。“SHIERWU”YILAI，YIPIQIYEHEKEYANYUANSUOBUDUANSHENHUAGUOJIHEZUO，KAITUOLEJIYINJIANCEXINGYEGUOJIHEZUODEXINJUMIAN。BIRU，BOAOSHENGWUSHIGUOJIA*DADEJIYINXINPIANQIYE，QICHANPINJIFUWUYICHUKOUBEIMEI、OUZHOU、YAZHOUDENGSANSHIDUOGEGUOJIAHEDIQU。QIZHONG，ZHENDUANYONGSHENGWUXINPIANJIXIANGGUANYIQICHANPINYIJINRUYINGGUO、DEGUO、RUIDIAN、YIDALI、XIBANYA、AODILI、RUISHI、PUTAOYA、FENLAN、DANMAI、RIBEN、XINJIAPODENGGUOJIADESHUBAIJIAYIYUANYONGYUJIBINGZHENDUAN。ZAIRU，HUADAJIYINSHIGUONEI*DADEJIYINCEXUJIGOU，QIFUWUWANGLUOFUGAIQUANQIUYIBAIDUOGEGUOJIAHEDIQU，BINGZAIMEIZHOU、YATAIHERIBENDENGPIANQUJIANLILEFENZHIJIGOU，QI2015NIANZHUYINGYEWUSHOURUZHONGJINYIBANLAIZIHAIWAI。TEBIEZHIDEYITIDESHI，2012NIAN12YUE，HUADAXUANBUHUADAKEJICHURANG42%GUFEN，RONGZI13.98YIYUANRENMINBI，YONGLAISHOUGOUMEIGUOJIYINCESHISHEBEIDEKAIFAHEZHIZAOSHANGComplete Genomics，ZHEISHIZHONGGUOZHUDONGCHUJIXIANGXINGYESHANGYOUJINJUN、SHENDUCANYUGUOJIJINGZHENGDEZHONGDAJUCUO。

　　GUOJIAFAGAIWEIHONGGUANYUANCHANYEJINGJIYUJISHUJINGJIYANJIUSUO

　　JIANGJIANG HANQI