Genetic testing in the context of familial hypercholesterolaemia: organisational and ethical aspects
| Autor: | C Strohmaier, M Walter |
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| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | European Journal of Public Health. 31 |
| ISSN: | 1464-360X 1101-1262 |
| Popis: | Background Molecular genetic diagnostics (GDx) is an increasingly used tool in the so-called ‘precision medicine'. For a structured implementation of GDx in screening programmes (SP), organisational and ethical implications must be considered. Our research report addresses implementation aspects of GDx in different health care systems and ethical considerations in the context of familial hypercholesterolaemia (FH)-a malfunction of the lipid metabolism. Methods The overview of (inter-)national FH test strategies, characteristics, and ethical aspects of (predictive) GDx is based on an iterative manual literature search in the G-I-N Library and the Trip-Database, followed by a search on health specific web pages. A revision of the Socratic approach by Hofmann et al. assists in analysing ethical aspects. Results We selected nine countries for a detailed comparison. Important components in FH treatment are the detection method, clinical criteria indicating a diagnosis, diagnostic tools, implementation, recommendations concerning cascade screening, genetic counselling, registries, and awareness programmes. Detection and diagnosis of index patients comprise of opportunistic approaches or organised systematic screenings in non-specialized or specialized settings. The use of GDx is most often recommended after a clinical diagnosis. In the course of cascade screening of at-risk family members, GDx is partly recommended in existing strategies. Ethical issues especially concern autonomy, informed consent and privacy (addressed during the process of genetic counselling). As a diagnosis by GDx impacts at risk family members, increased risk for intra-familial conflicts arise, e.g. disclosure of test results. Conclusions Implementing GDx results in a number of organisational and ethical challenges. Especially, investing in professional and well-trained genetic counsellors seems to be paramount, as the numerous ethical questions require sensitive communication. Key messages Our report provides a basis for decision makers to resolve implementation issues of molecular genetic diagnostics in the context of familial hypercholesterolaemia beyond (cost-) effectiveness/safety. In our report we discuss important ethical aspects of molecular genetic diagnostics in the context of familial hypercholesterolaemia that need to be considered by healthcare decision makers. |
| Databáze: | OpenAIRE |
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