Baranov V S
Vestn Ross Akad Med Nauk. 2011(9):27-35.
Impressive advances in the studies of human genome, identification of mutant genes of hereditary diseases and candidate genes of many chronic multifactorial diseases (MFD) laid the foundation of molecular medicine. Its characteristic features, such as the focus on individual prophylactic care, give reason to consider it as personalized predictive medicine (PPM). The fundamental concept behind PPM comprises the notion of genetic passport and its methodological basis is genetic testing (GT). Recent progress in PPM has been achieved due to the introduction of comprehensive genomic screening of associations. At the same time, the contribution of known individual genes to the development of MFD appears to be relatively insignificant which does not allow to identify the main causes of MFD. It gave rise to some scepsis as regards the value of genome as a source of information for practical medicine. Possibilities for the improvement of GT and conditions for the introduction of the available data into clinical practice are discussed. The necessity to attract clinicians to the work on PPM is emphasized. The development of unified MFD gene panels for clinical application and software for the evaluation and interpretation of GT results for doctors and patients is an indispensable condition for the use of PPM knowledge in the healthcare practice. The importance of solution of relevant ethical, juridical, and social issues is underscored.
人类基因组研究、遗传性疾病突变基因的鉴定以及许多慢性多因素疾病（MFD）候选基因的研究取得了令人瞩目的进展，为分子医学奠定了基础。其特征，如专注于个体预防保健，使其有理由被视为个性化预测医学（PPM）。PPM背后的基本概念包括基因护照的概念，其方法学基础是基因检测（GT）。由于引入了全面的关联基因组筛查，PPM最近取得了进展。与此同时，已知单个基因对MFD发展的贡献似乎相对较小，这使得无法确定MFD的主要原因。这引发了人们对基因组作为实用医学信息来源价值的一些怀疑。文中讨论了改进GT的可能性以及将现有数据引入临床实践的条件。强调了吸引临床医生参与PPM工作的必要性。开发用于临床应用的统一MFD基因面板以及用于医生和患者评估和解释GT结果的软件，是在医疗实践中运用PPM知识的不可或缺的条件。文中强调了解决相关伦理、法律和社会问题的重要性。
