M Elbracht1, R Meyer1, T Eggermann1, I Kurth2. 1. Institut für Humangenetik, Uniklinik RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Deutschland. 2. Institut für Humangenetik, Uniklinik RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Deutschland. ikurth@ukaachen.de.
Abstract
BACKGROUND: New methods of molecular genetic diagnostics enable a more comprehensive genetic analysis of patients. OBJECTIVES: Rational use and benefits of molecular genetic testing in patients with various internal diseases. METHOD: Evaluation of topic-related literature, discussion of own experiences, as well as consideration of current guidelines. RESULTS: 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. CONCLUSION: 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.
BACKGROUND: New methods of molecular genetic diagnostics enable a more comprehensive genetic analysis of patients. OBJECTIVES: Rational use and benefits of molecular genetic testing in patients with various internal diseases. METHOD: Evaluation of topic-related literature, discussion of own experiences, as well as consideration of current guidelines. RESULTS: 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. CONCLUSION: 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.
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