Medical genetics, along with its important area such as clinical genetics, stand out among other scientific disciplines dedicated to the study of human heredity. Nowadays, medical genetics, based on the results of fundamental research in the field of human genetics, can provide answers to three fundamental issues.
Where in the genome disease genes are located?
What is the functional variability of the DNA sequence in these genes?
How to implement the obtained information into clinical practice (diagnosis, prognosis, treatment).
Medical genetics has evolved from a small specialty dedicated to rare hereditary diseases into an important medical specialty, which concepts and approaches have over time become important components of the diagnosis and treatment of many diseases, both rare and common. It has become part of the broader field of molecular and genomic medicine, which uses broad analysis of the human genome, including control of gene expression, human gene variability, and the interaction of genes and the environment designed to improve medical care for patients and their families. In recent years, such new genetic patterns as an expansion of nucleotides, homogeneous disomy, epigenetic regulation, the role of small interfering RNAs have been discovered. Furthermore, hundreds of disease-associated genes have been identified. In fact, we are at the beginning of the revolutionary process of integration of genetics and genomics knowledge into healthcare and medical practice. Genetics is rapidly becoming the organizing principle for medical practice, laying the foundations for personalized medicine.
Future physicians must be prepared to accept new information that genetics brings to light because none of its achievements can be realized in healthcare practice without competent specialists. It is important for a medical student to continuously develop a personal need to master new genetic knowledge.
Since the release of the previous edition, a lot of new information in the field of medical genetics has been accumulated, gained new viewpoints on certain diseases, on the patterns of long-known disease occurrence and development, developed new approaches to prevention and treatment of other diseases besides rare monogenic diseases. All this is reflected in the new edition of our textbook.
A methodological breakthrough in the association studies of genetic polymorphisms and multifactorial diseases in the post-genomic era is reflected in the chapter on “Diseases with a hereditary predisposition”, which describes the results of the study of molecular mechanisms involved in the pathogenesis of widespread diseases.
In recent years, significant progress has been made in the study of xenobiotic biotransformation genes (metabolism genes), therefore, this edition of the textbook includes new chapters on “Human Ecological Genetics” and “Pharmacogenetics”. This information is expected to be the basic knowledge for any physician, primarily for the pharmacogenetic understanding of a personalized approach to drug treatment, and then for ensuring the safety of the human environment: professional activity, particularly those involved in the chemical industry, an individual’s diet (toxicogenetics, nutrigenetics).
This textbook summarizes the experience of teaching medical genetics at the departments of the I.M. Sechenov First Moscow State Medical University and the Siberian State Medical University, in Tomsk, Russia. It seems important to us to emphasize that true education is, above all, an understanding of basic principles, and “not memorizing piles of trivial information and subtleties”. It is important for future physicians to understand the paradigms of modern genetic science and learn how to apply the acquired principles in their medical practice, and the process of clinical thinking.
The present textbook aims to teach students the language of science, to show the logic of the emergence of new genetic knowledge about the types of pathology (mendelian, chromosomal, multifactorial), to mark what is understood in pathology and what still remains to be clarified by the examples of theoretical and practical lessons at the Department of Medical Genetics.
The authors would like to express their sincere gratitude to students, postgraduate students, and physicians for their interest in the textbook that stimulated thinking about complex genetic processes and presented them in an accessible to a physician way.
Special gratitude expressed to colleagues in the department: A.Yu. Asanov, N.A. Zhuchenko, T.I. Subbotina, M.V. Tikhopoy, M.G. Filippova, T.V. Filippova, in discussions with whom the training program in clinical genetics and the educational plans were developed.