Terminology Issues in the Field of Genetic Research

Abstract

Due to the intensive development of genetic research, the availability of genetic testing is increasing, including those based on genome-wide sequencing offered by private and public laboratories. Genetic testing can be used to identify the cause of the disease in patients with suspected hereditary (orphan) diseases and as a screening tool for healthy people, for example, if expectant parents planning to have children are carriers of hereditary diseases, to identify the risks of hereditary oncological diseases and multifactorial diseases, for pharmacogenetic testing, as well as for non-medical purposes, for example to determine the «ethnic origin». In addition, genetic research can be used to identify individuals, including in criminology and for genomic registration, determination of paternity and other kinship. This review paper analyzes some issues of terminology in the field of genetic research, including their results, as well as the legal basis for the genetic certification of the population of the Russian Federation, the use of the terms «genetic passport», «genetic profile» and «genomic passport», «genomic profile» and provides recommendations for improving the use of relevant terms such as standardizing the requirements for the preparation of a report/conclusion on the results of a genetic study and resolving the issue of the medical nature of the full-genome sequencing process. In addition, the practice of using the term «genetic passport» in federal acts, as well as domestic and foreign literature and media publications, is analyzed. Not only does the paper reveal the concept of complete genome sequencing, but also provides cases of mandatory medical and biological examination, including complete genome sequencing.