Genome Paths A Way to Personalized and Predictive Medicine

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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.

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Introd uction The revolutionary achievements in human genetics such as full genome seguencing, the successful completion of the HapMap program (haploid genome), the rapid development of bioinformatics and nanotechnology, advances in the delelopment of efficient methods for genome analysis are signs of a new era: the era of genomics. The 21st century could well be remembered as the century of genetics [1, 2]. Impressive progress in comparative and functional genomics has assured the widespread introduction of this branch in medicine. Thus, it has led to the emergence and rapid development of medical genomics in which such problems of classical medicine as diagnosis, prevention, and treatment are solved at the level of nucleic acids and the products of their expression: RN A and proteins [3, 4, 5]. The preventive direction in molecular medicine gave rise to predictive medicine (PM). Its main features appear to be its individual (the genome of every human individual) and preventive character (analyses of the genome are possible at any stage of ontogeny, long before the onset of a particular disease). The main principles of predictive medicine and genetic testing (GT) as a methodological basis for PM, as well as the concept of a “genetic passport,” were formulated by us in 2000 [5, 6, 37]. 1. Pol ymorphism of genes as the basis of predictive medicine The genomes of all people, except for identical twins, are different. Pronounced population, ethnic, and, most importantly, individual genome features in translatable parts of genes (exons), as well as in their noncoding sequences (intergenic spaces and introns), are caused by mutations leading to genetic polymorphism (GP). The latter is usually defined as a mendelian trait occurring in the population, at least in two variants, with a frequency of not less than 1% for each one [10]. GPs may be quantitative or qualitative. Quantitative GP is represented by facultative elements, which account for up to 50% of the entire genome. These are micro- and minisatellite DNA, as well as DNA composed of tandem repeats (STR - Short Tandem Repeats), retrotransposons, and extensive repeats with variability in core nucleotide sequence composition – VNTR (Variable Number Tandem Repeats).

About the authors

V S Baranov

Ott’s Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences



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