Global implementation of genomic medicine: We are not alone.
Global implementation of genomic medicine: We are not alone.
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DOI：
10.1126/scitranslmed.aab0194
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发表时间：
2015-06-03
影响因子：
17.1
通讯作者：
Ginsburg GS
中科院分区：
文献类型：
--
作者：
Manolio TA;Abramowicz M;Al-Mulla F;Anderson W;Balling R;Berger AC;Bleyl S;Chakravarti A;Chantratita W;Chisholm RL;Dissanayake VH;Dunn M;Dzau VJ;Han BG;Hubbard T;Kolbe A;Korf B;Kubo M;Lasko P;Leego E;Mahasirimongkol S;Majumdar PP;Matthijs G;McLeod HL;Metspalu A;Meulien P;Miyano S;Naparstek Y;O'Rourke PP;Patrinos GP;Rehm HL;Relling MV;Rennert G;Rodriguez LL;Roden DM;Shuldiner AR;Sinha S;Tan P;Ulfendahl M;Ward R;Williams MS;Wong JE;Green ED;Ginsburg GS
高通量基因组技术的进步，加上越来越多的基因组结果可能在临床护理中有用，导致突破性的基因组医学实施计划在各个国家。许多创新项目都利用了当地独特的能力，这些能力源于其医疗保健系统的结构或文化或政治环境，以及异常的疾病或风险等位基因负担。许多这类方案都是在相对孤立的情况下进行的，可以从分享其他国家的做法和经验教训中受益。国家人类基因组研究所最近召集了来自世界各地的25个小组，以描述和比较项目，审查目前的实施状况和所需的近期能力，并确定合作机会，以促进负责任地实施基因组医学。在不同环境中的各种各样的新生项目表明，基因组医学的实施正在以各种高度创新的方式在全球范围内扩展。在证据生成、卫生信息技术、教育、劳动力发展、药物基因组学以及政策和监管问题等领域，合作机会比比皆是。已经在促进有效的研究合作的几个国际组织应参与进来，以确保合作开展实施工作，而不会出现可能造成浪费的重复。努力将这些群体团结在具体但引人注目的签名项目周围，例如全球根除遗传介导的药物反应或在众多种族中开发真正的全球基因组变异数据资源，将加速基因组学的适当实施，以改善全球临床护理。
Advances in high-throughput genomic technologies coupled with a growing number of genomic results potentially useful in clinical care have led to ground-breaking genomic medicine implementation programs in various nations. Many of these innovative programs capitalize on unique local capabilities arising from the structure of their health care systems or their cultural or political milieu, as well as from unusual burdens of disease or risk alleles. Many such programs are being conducted in relative isolation and might benefit from sharing of approaches and lessons learned in other nations. The National Human Genome Research Institute recently brought together 25 of these groups from around the world to describe and compare projects, examine the current state of implementation and desired near-term capabilities, and identify opportunities for collaboration to promote the responsible implementation of genomic medicine. The wide variety of nascent programs in diverse settings demonstrates that implementation of genomic medicine is expanding globally in varied and highly innovative ways. Opportunities for collaboration abound in the areas of evidence generation, health information technology, education, workforce development, pharmacogenomics, and policy and regulatory issues. Several international organizations that are already facilitating effective research collaborations should engage to ensure implementation proceeds collaboratively without potentially wasteful duplication. Efforts to coalesce these groups around concrete but compelling signature projects, such as global eradication of genetically-mediated drug reactions or developing a truly global genomic variant data resource across a wide number of ethnicities, would accelerate appropriate implementation of genomics to improve clinical care world-wide.