Environmental genetics and predictive medicine: 20 years later. New trends and old basis

Abstract

This review, based on previously formulated hypotheses, our own research and assumptions, examines the main modern trends and directions of molecular medicine related to the assessment of the effect of environmental factors on the human genome, that is, the problem of human environmental genetics. Among them, special attention is paid to aspects of genome sequencing, from the draft version to the final version, and the start of the Pangenome project. Information is provided on all programs for analyzing the human genome, on the connection between biobanks and national genomic projects, on the importance of genetic diversity and genome errors, on its polymorphism and the importance of genomic clinical databases. Ten trends in molecular medicine over the past 20 years are separately highlighted. The review presents new challenges in predictive medicine related to carrier screening and the development of preimplantation genetic testing for both monogenic and multifactorial diseases. The situation with genetic testing related to an individual's susceptibility to environmental factors and diseases is summarized. There has been an accumulation of a huge number of research results. Some attention is paid to pharmacogenetic studies, for which certain levels of evidence have been formed in the clinic, which have led in some countries to the start of projects for the development and implementation of pharmacogenetic passports. Some new areas are considered - psychogenetics, sports genetics, genetics of susceptibility to coronavirus infection and others. In the final parts, attention is paid to the genetic prognosis of multifactorial diseases, which is based on both DNA and RNA studies (and other omics technologies) using mathematical modeling and the creation of a new paradigm of a genetic passport - an omics map of reproductive health.