Melén Erik, Jacobsson Bo, Benson Mikael, Orho-Melander Marju, Halvarson Jonas, Jern Christina
professor, överläkare, institutionen för klinisk forskning och utbildning, Södersjukhuset, Karolinska institutet; Sachsska barn- och ungdomssjukhuset, Stockholm.
professor, överläkare, avdelningen för obstetrik och gynekologi, Göteborgs universitet; kvinnokliniken, Sahlgrenska universitetssjukhuset, Göteborg.
Lakartidningen. 2021 May 11;118:20213.
Complex diseases represent a number of common disorders such as allergic conditions, cardiovascular, metabolic and chronic inflammatory diseases. These diseases are caused by a combination of genetic, environmental and lifestyle factors. This complex etiology creates challenges when it comes to diagnostics, follow-up programs and treatment. Although exact disease mechanisms are yet to be elucidated for most complex diseases, key genetic determinants have been mapped and omics profiling has unraveled involved pathways. Using this wealth of data, precision medicine applications have started to appear also for common, complex diseases. In this article, we review current precision medicine applications from a clinical point of view and outline briefly a roadmap ahead for further clinical implementation of precision medicine in complex diseases.
复杂疾病包括多种常见病症，如过敏症、心血管疾病、代谢性疾病和慢性炎症性疾病。这些疾病由遗传、环境和生活方式等多种因素共同导致。这种复杂的病因在诊断、随访计划和治疗方面带来了挑战。尽管大多数复杂疾病的确切发病机制尚待阐明，但关键的遗传决定因素已被定位，组学分析也揭示了相关途径。利用这些丰富的数据，针对常见复杂疾病的精准医学应用也已开始出现。在本文中，我们从临床角度回顾当前的精准医学应用，并简要概述复杂疾病中精准医学进一步临床实施的未来路线图。
