Genetic testing in the context of familial hypercholesterolaemia management. Organisational and ethical implications (part 1), and economic aspects (part 2)

Walter M, Strohmaier C
Record ID 32018000962
Authors' results and conclusions: Numerous characteristic treatment components in internationally recommended or already implemented test strategies for the diagnosis of familial hypercholesterolaemia (FH) could be identified. These include the method for identifying so called FH index patients, the clinical criteria for diagnosis, the use of Molecular genetic diagnostics (GDx) and recommendations for cascade screening and genetic counselling. In Austria, a systematically organised FH testing strategy is currently neither formally recommended nor actually implemented. From an ethical point of view, genetic counselling is particularly relevant, since the complex decisions that patients have to make require professional support. With regard to resource impact analysis, the largest cost factor seems to be the molecular genetic test, but a number of other cost components must be taken into account. The report shows, regardless of the respective FH test strategy, that the (systematic) implementation of GDx entails a number of organisational challenges, such as the definition of concrete steps of action and responsible personnel, as well as the provision of sufficient and well-trained genetic counsellors and their close logistical connection to the clinical and laboratory processes of genetic diagnosis. Moreover, the organised introduction of GDx can lead to considerable cost increases, which are significantly higher than those of the actual test itself.
Authors' recomendations: A thorough effectiveness and cost-effectiveness analysis for the Austrian context should be carried out before implementing GDx for the diagnosis of FH
Authors' methods: The overview of recommended or implemented (inter)national FH test strategies was based on an iterative manual literature search. Expert interviews were conducted to answer questions on the Austrian situation and Austrian-specific organisational aspects. Ethical aspects of (predictive) genetic diagnostics were identified using Hofmann's questionnaire. In order to assess the economic implications, a resource impact analysis (RIA) from the perspective of public funding agencies was conducted for a one-year time horizon based on the FH model of the National Institute for Health and Care Excellence (NICE).
Project Status: Completed
Year Published: 2020
URL for additional information:
English language abstract: An English language summary is available
Publication Type: Full HTA
Country: Austria
MeSH Terms
  • Genetic Testing
  • Hypercholesterolemia
  • Hyperlipoproteinemia Type II
  • Genetic Predisposition to Disease
  • Ethics
  • Costs and Cost Analysis
  • Molecular Diagnostic Techniques
  • Molecular genetic diagnostic
  • familial hypercholesterolaemia
  • screening
  • lipid metabolism
  • prevention
Organisation Name: Austrian Institute for Health Technology Assessment
Contact Address: Garnisongasse 7/20, A-1090 Vienna, Austria
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Contact Email:
Copyright: AIHTA
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.