Palotie Aarno, Ripatti Samuli
Duodecim. 2017;133(8):771-5.
Genomic data, i.e. measurement of variation in the complete genome has revolutionized genetic research and changed our understanding of the pathogenetic mechanisms of diseases. Genomic data in combination with Finnish special strengths - population history, the nation's comprehensive health records and a strong research tradition in genetic epidemiology - has made Finland a testing laboratory for diseases of public health importance. At the same time, genomic research has changed into statistical evaluation of large masses of data - big data. New research knowledge is now descending to the prevention and treatment of diseases, and this will affect future medical practices. In this reform, Finland has a chance to be a key player. The change is, however, global, and the world will not wait that Finland is ready, but instead we have to take care of it ourselves. When successful, new kind of research will help better allocate health care resources, provide more individualized care and stimulate businesses based on new technology.
基因组数据,即对完整基因组变异的测量,彻底改变了基因研究,并改变了我们对疾病致病机制的理解。基因组数据与芬兰的特殊优势——人口历史、全国综合健康记录以及遗传流行病学方面强大的研究传统——相结合,使芬兰成为了一个对具有公共卫生重要性的疾病进行测试的实验室。与此同时,基因组研究已转变为对大量数据——大数据——的统计评估。新的研究知识如今正应用于疾病的预防和治疗,这将影响未来的医疗实践。在这场变革中,芬兰有机会成为关键参与者。然而,这种变化是全球性的,世界不会等待芬兰准备好,相反,我们必须自己应对。如果成功,新型研究将有助于更好地分配医疗资源,提供更个性化的护理,并刺激基于新技术的企业发展。