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

[Article in German]

Elbracht M1, Meyer R1, Eggermann T1, Kurth I2.

Author information

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.