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' recommendations: 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

URL for project: https://aihta.at/page/molekulargenetische-diagnostik-als-triage-mechanismus-in-der-kardiologie-am-beispiel-der-familiaeren-hypercholesterinaemie-organisatorische-und-ethische-implikationen-teil-1-sowie-oekonomische-auswirkungen-teil-2/en

Year Published: 2020

URL for published report: https://eprints.aihta.at/1281/1/HTA-Projektbericht_Nr.130.pdf

URL for additional information: https://eprints.aihta.at/1281/

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: Austria

Organisation Name: Austrian Institute for Health Technology Assessment

Contact Address: Garnisongasse 7/20, A-1090 Vienna, Austria

Contact Name: office@aihta.at

Contact Email: office@aihta.at

Copyright: AIHTA