Genetic testing in the context of familial hypercholesterolaemia: organisational and ethical aspects

Abstract Background Molecular genetic diagnostics (GDx) is an increasingly used tool in the so-called ‘precision medicine'. For a structured implementation of GDx screening programmes (SP), organisational and ethical implications must be considered. Our research report addresses aspects different health care systems considerations context familial hypercholesterolaemia (FH)-a malfunction lipid metabolism. Methods The overview (inter-)national FH test strategies, characteristics, (predictive) based on iterative manual literature search G-I-N Library Trip-Database, followed by specific web pages. A revision Socratic approach Hofmann et al. assists analysing aspects. Results We selected nine countries for detailed comparison. Important components treatment are detection method, clinical criteria indicating diagnosis, diagnostic tools, implementation, recommendations concerning cascade screening, counselling, registries, awareness programmes. Detection diagnosis index patients comprise opportunistic approaches or organised systematic screenings non-specialized specialized settings. use most often recommended after diagnosis. In course at-risk family members, partly existing strategies. Ethical issues especially concern autonomy, informed consent privacy (addressed during process counselling). As impacts at risk increased intra-familial conflicts arise, e.g. disclosure results. Conclusions Implementing results number challenges. Especially, investing professional well-trained counsellors seems to paramount, as numerous questions require sensitive communication. Key messages provides basis decision makers resolve molecular beyond (cost-) effectiveness/safety. our we discuss important that need considered healthcare makers.