Abstract
Progress in understanding of structural and functional human genome organization and deciphering primary DNA sequence in human cells allowed for hitherto unreachable new capabilities of medical genetics in identifying the causes and mechanisms of inherited and inborn pathology. Implementation of genetics into medicine is progressively advancing along with improvement of molecular analysis of genome. Knowledge of genome and its functions allows to provide more accurate diagnosis, predict, to a considerable extent, the presence of genetic predisposition of a person to pathology, and to assess the chances for developing one or another disease. This approach became the basis for a new area of medical genetics named predictive medicine. The progress of predictive medicine refl ects success in tremendous upgrowth of molecular genetic methods and new capabilities of studying structure and functions of genome. Within less than 15 years after deciphering genome, medical genetics has travelled a long way from a single gene analysis to whole genome studies, from screening of genetic associations to systems genetics of multifactorial diseases, from translational to high-precision genetics, and from genetic passport idea to electronic genetic health records. The development of a genetic passport, prognostic genetic testing, and genomic chart of reproductive health is especially relevant for current practical medicine.
Highlights
The article reviews a history of predictive medicine (PM), its progress with a brief period of disappointment, its further revival, rapid development, and the nearest and long-term prospects.The review aims at increasing awareness of medical professionals, medical students, and specialists working in medical institutions of the need for in-depth knowledge of medical genetics and at drawing their attention to the essential achievements in this relatively new area of molecular medicine.Deciphering human genome in 2000s predetermined the transition of medicine to the molecular level
Genetic medicine focusing on genetic/monogenic diseases emerged due to the development of molecular methods, whereas implementation of genomic technologies such as genome-wide association studies (GWAS), new-generation sequencing (NGS), bioinformatics methods, and omics analysis resulted in the shift of research interests towards multifactorial pathology
It is proposed that New-generation sequencing (NGS) will allow to solve the essential problems in PM, in particular, identify the new candidate genes for multifactorial diseases (MFD) and detect new pathogenetically significant mutations: to perform qualitative and quantitative analysis of copy number variations (CNV), assess their contribution to MFD pathogenesis and individual genetic specificity of MFDs, and create new genetic classification of diseases
Summary
The article reviews a history of predictive medicine (PM), its progress with a brief period of disappointment, its further revival, rapid development, and the nearest and long-term prospects.The review aims at increasing awareness of medical professionals, medical students, and specialists working in medical institutions of the need for in-depth knowledge of medical genetics and at drawing their attention to the essential achievements in this relatively new area of molecular medicine.Deciphering human genome in 2000s predetermined the transition of medicine to the molecular (genomic) level. Genetic medicine focusing on genetic/monogenic diseases emerged due to the development of molecular methods, whereas implementation of genomic technologies such as genome-wide association studies (GWAS), new-generation sequencing (NGS), bioinformatics methods, and omics analysis resulted in the shift of research interests towards multifactorial pathology.
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