基因组医学与个性化医疗时代.pptxVIP

基因组医学与个性化医疗时代第1页/共80页第2页/共80页完全健康绝对死亡健康,亚临床,疾病与损伤,濒死出现临床症状（疾病）卫生资源严重疾病1%70%高危险状态（早期病理改变）19%慢性病中危险状态80%30%相对健康/一般小病低危险状态第3页/共80页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，事倍功半第4页/共80页我国十一五科学发展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、基层医疗第5页/共80页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。第6页/共80页第7页/共80页Collins et al., Nature 4/24/03第8页/共80页Collins et al., Nature 4/24/03第9页/共80页A SMALL SAMPLING OF COOL THINGS ABOUT THE GENOMEHumans have fewer protein-coding genes than expected – only about 20,000Only about 1.5% of the human genome is involved in coding for protein, but there are numerous complex critical functions encoded in the rest of the DNA instruction bookWe are all 99.9% the same at the DNA level第10页/共80页Cystic fibrosisAdult onset diabetesAIDS第11页/共80页第12页/共80页第13页/共80页 SNP A SNP B第14页/共80页Searching for genetic causes ofdisease in the pre-genome era第15页/共80页“Genome Wide Association” Approach to Common Disease:The View from 2002Identify all 10 million common SNPsCollect 1000 cases and 1000 controlsGenotype all DNAs for all SNPsThat adds up to 20 billion genotypesAt 50 cents a genotype, that’s $10 billion for each disease – completely out of the question第16页/共80页第17页/共80页Genome Wide Association Approach to Common Disease:The View from 2007Identify an optimum set of 300,000 tag SNPsCollect 1000 cases and 1000 controlsGenotype all DNAs for all SNPsThat adds up to 600 million genotypesGenotyping just dropped to $0.0012, so that’s $800,000 for each disease第18页/共80页Searching for genetic causes ofdisease in the genome era第19页/共80页CF3GCKRFTOCDKN2A8q24 #28q24 #38q24 #48q24 #58q24 #6 ATG16L1IRGM5p133p2110q21NKX2PTPN2IL12BCDKN2AIGF2BP2CDKAL1HHEXSLC30A8CholesterolObesityCoronary DzProstate cancerAge Related Macular DegenerationCrohn’s DiseaseType 2 DiabetesCFB/C2LOC3877158q24IL23RTCF7L2IBD5NOD2CFHPPAR?Confirmed genetic contributors to common human diseases (Apr