精准医学的内涵演化、重点领域与我国发展对策

Precision medicine:concept origins and evolution,research areas and policy recommendations for China

精准医学已受到我国政府、科学界和企业界的高度重视。本文从政策分析和数据分析的角度,阐述精准医学的内涵演化与重点领域,提出我国发展对策。基因测序技术、靶向药物研发及其相关的监管政策与数据标准问题是英美精准医学的部署重点;美欧日含基因信息的上市药物发展迅速,我国基于药物基因组学的新药创制发展滞后;国际上药物基因组学生物标记物试验与患者结局的关联性证据研究仍需加强。建议根据我国的疾病谱特征加强分子标记物基础研究、加强药物遗传学及基因组学标记物临床转化研究、加强基因分子诊断技术研发与临床检测能力建设、加强精准医学专门人才培养和加强监管与政策研究,作为我国发展精准医学的战略重点。

The current high level of interest in Precision Medicine from the policy makers, scientists and the industry in China was inspired by the US＇ Precision Medicine Initiative in early 2015. In this paper, we in- vestigated the origins, evolution, and the research areas in terms of science policy analysis combined with scientometrics, and tried to develop policy recommendations for precision medicine in China. Large-scale DNA sequencing to match genomic and clinical data, molecular targeted drug discovery, and the regulation issues for developing personalized therapies for cancer and other diseases have been the policy priorites in US and UK. Pharmacogenomics/biomarker-guided drug development capacities in China are weaker than US, Europe and Japan. It is imperative worldwide to strengthen the translational research necessary to val- idate genomic/clinical correlations so as to move genomic discoveries to practical application. We recom- mend five priority areas for the strategic development of precision medicine in China, i. e. , increasing public and coordinating with industry investment in basic and translational research on pharmacogenomics/biomar- kers, developing genomics-based molecular diagnostics and clinical testing capacities, promoting physician and patient education, and improving the regulation, reimbursement, intellectual property and economics related policy.