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

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

Internist (Berl). 2018 Jun 26;:

Authors: Elbracht M, Meyer R, Eggermann T, Kurth I

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.

PMID: 29946883 [PubMed – as supplied by publisher]

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