基因组医学与个性化医疗时代

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1、GenomicmedicineandPersonalizedMedicineFrancisS.Collins,M.D.,Ph.D.NationalHumanGenomeResearchInstitutePAEAAnnualMeetingOctober27,2007完全健康绝对死亡健康,亚临床,疾病与损伤,濒死中危险状态低危险状态出现临床症状（疾病）高危险状态（早期病理改变）相对健康/一般小病慢性病严重疾病1%19%80%卫生资源70%30%医疗卫生事业发展面临的问题诊断治疗系统耗费了大量卫生费用，而效益低下诊断治疗没有个性化，导致过度治疗，事倍功半我国十一五科学发展

2、规划有关人口与健康部分的指导方针重点前移将医学研究的重点从“诊断治疗”前移到“预测预防”重心下移政府重点投入社区医疗、基层医疗面对目前医疗卫生改革的难题除了政策层面的体制改革，在技术层面我们能够做什么？基因组医学能给我们带来什么？根据易感基因，预测疾病发生的概率，做到个性化预防根据同一种疾病对对同一种药物的不同反应进行基因分型，做到个性化治疗以导致疾病的相关基因作为靶点，开发新的治疗药物。Collinsetal.,Nature4/24/03Collinsetal.,Nature4/24/03ASMALLSAMPLINGOFCOOLTHINGSABOUTTHEGEN

3、OMEHumanshavefewerprotein-codinggenesthanexpected–onlyabout20,000Onlyabout1.5%ofthehumangenomeisinvolvedincodingforprotein,buttherearenumerouscomplexcriticalfunctionsencodedintherestoftheDNAinstructionbookWeareall99.9%thesameattheDNAlevelCysticfibrosisAdultonsetdiabetesAIDSSNPASNPBSear

4、chingforgeneticcausesofdiseaseinthepre-genomeera“GenomeWideAssociation”ApproachtoCommonDisease:TheViewfrom2002Identifyall10millioncommonSNPsCollect1000casesand1000controlsGenotypeallDNAsforallSNPsThataddsupto20billiongenotypesAt50centsagenotype,that’s$10billionforeachdisease–completel

5、youtofthequestionGenomeWideAssociationApproachtoCommonDisease:TheViewfrom2007Identifyanoptimumsetof300,000tagSNPsCollect1000casesand1000controlsGenotypeallDNAsforallSNPsThataddsupto600milliongenotypesGenotypingjustdroppedto$0.0012,sothat’s$800,000foreachdiseaseSearchingforgeneticcause

6、sofdiseaseinthegenomeeraConfirmedgeneticcontributorstocommonhumandiseases(April2007)2000200620072001CF3GCKRFTOCDKN2A8q24#28q24#38q24#48q24#58q24#6ATG16L1IRGM5p133p2110q21NKX2PTPN2IL12BCDKN2AIGF2BP2CDKAL1HHEXSLC30A8CholesterolObesityCoronaryDzKCNJ112002200320042005PPARType2DiabetesIBD5

7、NOD2Crohn’sDiseaseCFHAgeRelatedMacularDegenerationCFB/C2LOC3877158q24IL23RTCF7L2ProstatecancerCholesterolObesityCoronaryDiseaseQTintervalAtrialFibrillationType2DiabetesProstatecancerBreastcancerColoncancerKCNJ1120032000PPAR2001IBD5NOD2200520062002CTLA42004PTPN22AgeRelatedMacularDege