Ott's Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences.
Acta Naturae. 2009 Oct;1(3):70-80.
The review is devoted to the impact of human genome research on progress in modern medicine. Basic achievements in genome research have resulted in the deciphering of the human genome and creation of a molecular landmarks map of the human haploid genome (HapMap Project), which has made a tremendous contribution to our understanding of common genetic and multifactorial (complex) disorders. Current genome studies mainly focus on genetic testing and gene association studies of multifactorial (complex) diseases, with the purpose of their efficient diagnostics and prevention . Identification of candidate ("predisposition") genes participating in the functional genetic modules underlying each common disorder and the use of this genetic background to elaborate sophisticated measures to efficiently prevent them constitutes a major goal in personalized molecular medicine. The concept of a genetic pass as an individual DNA databank reflecting inherited human predisposition to different complex and monogenic disorders, with special emphasis on its present state, and the numerous difficulties related to the practical implementation of personalized medicine are outlined. The problems related to the uncertainness of the results of genetic testing could be overcome at least partly by means of new technological achievements in genome research methods, such as genome-wide association studies (GWAS), massive parallel DNA sequencing, and genetic and epigenetic profiling. The basic tasks of genomic today could be determined as the need to properly estimate the clinical value of genetic testing and its applicability in clinical practice. Feasible ways towards the gradual implementation of personal genetic data, in line with routine laboratory tests, for the benefit of clinical practice are discussed.
本文综述了人类基因组研究对现代医学进展的影响。基因组研究的基本成果导致了人类基因组的破译和人类单倍体基因组的分子标志图谱的创建（HapMap 项目），这对我们理解常见的遗传和多因素（复杂）疾病做出了巨大贡献。目前的基因组研究主要集中在多因素（复杂）疾病的遗传检测和基因关联研究上，目的是进行有效的诊断和预防。确定参与每种常见疾病功能遗传模块的候选（“易感性”）基因，并利用这种遗传背景来精心制定高效预防它们的复杂措施，这是个性化分子医学的主要目标。遗传通行证的概念是一个反映人类对不同复杂和单基因疾病遗传易感性的个体 DNA 数据库，特别强调其现状，以及与个性化医学的实际实施相关的许多困难，都在本文中进行了概述。遗传检测结果的不确定性问题至少可以通过基因组研究方法的新技术成果来部分克服，如全基因组关联研究（GWAS）、大规模平行 DNA 测序以及遗传和表观遗传分析。目前基因组学的基本任务可以确定为需要正确评估遗传检测的临床价值及其在临床实践中的适用性。本文还讨论了朝着符合常规实验室检测的方向逐步实施个人遗传数据的可行方法，以造福于临床实践。
