title: [Concepts for the return of secondary genetic findings in medical diagnostics and research].
abstract: High-throughput sequencing of whole genomes is technically already at a high level and is being discussed as a cost-effective alternative to other targeted, analytical procedures for clinical diagnosis of heritable disorders. On the other hand, with whole genome and whole exome sequencing, there is a high likelihood of uncovering secondary findings not associated with the primary aim of the investigation. This article tries to outline the current scientific and technical status of whole genome and whole exome sequencing and of the national and international recommendations concerning the handling of secondary genetic findings which are already available, above all in the research-related context and less so in the clinical context.
authors.affiliation: Geschäftsstelle der Gendiagnostik-Kommission, Robert Koch-Institut Berlin, Nordufer 20, 13353, Berlin, Deutschland, fishere@rki.de.
authors.forename: E
authors.initials: E
authors.lastname: Fisher
authors.forename: S
authors.initials: S
authors.lastname: Achilles
authors.forename: H
authors.initials: H
authors.lastname: Tönnies
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D059472:Exome / Q000235:genetics*; D036281:Genetic Research; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans