Целесообразность применения экзомного секвенирования для диагностики наследственных заболеваний

Identification of the genetic cause of a hereditary disease is a necessary step in the differential diagnosis, because plays an important role in evaluation of genetic risk, and in some cases also helps to determine the method of treatment, for example, for some hereditary metabolic diseases. The subsequent choice of molecular genetic testing method can be very difficult due to the presence of a number of advantages and limitations for each of these approaches. Methods of molecular genetic testing in order to identify the genetic causes of a hereditary disease, first of all, differ in diagnostic efficiency, time and cost of the study. In addition, the characteristics of different methods can also vary significantly for different groups of genetic diseases. Using the wrong method can significantly increase the time and cost of diagnosis. Recently, several data indicate that one of the next generation sequencing (NGS) methods - exome sequencing - has high efficacy for identification of the genetic cause of certain groups of hereditary diseases. Exome sequencing provides information about changes in gene coding regions - exons. A trio exome sequencing in families further increases the effectiveness of such analysis. The article describes the examples of clinical and financial feasibility of exome sequencing to identify the genetic cause of a hereditary disease. Such cases include: rare genetic diseases, heterogeneous diseases in children 0-3 years old, recently established connection of a gene with a disease, testing after negative results of other studies, for prenatal diagnosis, for financial reasons.