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

Internist (Berl). 2018 Aug;59(8):756-765. doi: 10.1007/s00108-018-0457-7.
[Article in German]

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.

Keywords: Exome; Gene panel analysis; Genetic counselling; Genome; Sequence analysis, DNA.

Publication types

  • Review

MeSH terms

  • Genetic Testing*
  • Genetics, Medical*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Internal Medicine*
  • Molecular Biology