title: [Quality assurance in human genetic testing].
abstract: BACKGROUND
  Advances in technical developments of genetic diagnostics for more than 50 years, as well as the fact that human genetic testing is usually performed only once in a lifetime, with additional impact for blood relatives, are determining the extraordinary importance of quality assurance in human genetic testing. Abidance of laws, directives, and guidelines plays a major role.
  
  
  OBJECTIVE
  This article aims to present the major laws, directives, and guidelines with respect to quality assurance of human genetic testing, paying careful attention to internal and external quality assurance.
  
  
  METHODS
  The information on quality assurance of human genetic testing was obtained through a web-based search of the web pages that are referred to in this article. Further information was retrieved from publications in the German Society of Human Genetics and through a PubMed-search using term quality + assurance + genetic + diagnostics.
  
  
  CONCLUSIONS
  The most important laws, directives, and guidelines for quality assurance of human genetic testing are the gene diagnostics law (GenDG), the directive of the Federal Medical Council for quality control of clinical laboratory analysis (RiliBÄK), and the S2K guideline for human genetic diagnostics and counselling. In addition, voluntary accreditation under DIN EN ISO 15189:2013 offers a most recommended contribution towards quality assurance of human genetic testing. Legal restraints on quality assurance of human genetic testing as mentioned in § 5 GenDG are fulfilled once RiliBÄK requirements are followed.
authors.affiliation: Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland, Stuhrmann.manfred@mh-hannover.de.
authors.forename: Manfred
authors.initials: M
authors.lastname: Stuhrmann-Spangenberg
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics* / Q000517:prevention & control*; D005820:Genetic Testing / Q000592:standards*; D005823:Genetics / Q000592:standards*; D005858:Germany; D006801:Humans; D038622:Internationality; D017410:Practice Guidelines as Topic; D057285:Precision Medicine / Q000592:standards*