Rational use of genetic tests in internal medicine. Possibilities and limitations of next generation sequencing diagnostics

New methods of molecular genetic diagnostics enable a more comprehensive genetic analysis of patients. Rational use and benefits of molecular genetic testing in patients with various internal diseases. Evaluation of topic-related literature, discussion of own experiences, as well as consideration of current guidelines. New genetic tests, such as next generation sequencing (NGS), improve the diagnosis of hereditary diseases; however, the use of this technology also leads to additional findings, which must be carefully considered. The rational use of genetic tests is a benefit for patients and can significantly influence the prevention and treatment of a disease. The increasing complexity of genetic findings requires interdisciplinary approaches involving human genetics, internal medicine, and other disciplines.