Genetic risk prediction test for cardiovascular disease

Baños-Álvarez E, Llanos-Méndez A, Isabel-Gómez R.
Record ID 32018000721
Original Title: Pruebas genéticas para determinación de riesgo futuro de enfermedad cardiovascular
Authors' objectives: To assess the efficacy, effectiveness and safety of future risk prediction models of cardiovascular disease used in the healthy population, which include classical (non-genetic) risk factors and also genetic risk factors.
Authors' results and conclusions: RESULTS We included 15 documents, 13 future risk prediction model studies, 1 randomized clinical trial and 1 economic evaluation study. 18 Informes, estudios e investigación The results analyzed indicate that the addition of genetic predictive factors to a prediction model based on well-defined classical factors does not improve its discrimination and/or reclassification results. None of the studies analyzed documented any adverse effect due to the use of this technology. In relation to the economic evaluation study, the greatest benefit achieved was in the moderate-high risk group, with a reclassification at risk greater than 22.8 % of patients, with a cost of earning an AVAC compared to the standard (ICER) of 1,652/AVAC and 5,884 euros/ AVAC, in the REGICOR and Framingham cohorts respectively. CONCLUSIONS The localized evidence does not demonstrate the superiority of these models over those based on traditional factors. Improved reclassification was identified in the group of moderate-high risk but requires more specific studies. Not enough studies were found to evaluate the clinical utility or safety of these future risk prediction models.
Authors' methods: We carried out a systematic review of the literature in the following reference databases up to February 2019: Medline, EMBASE, Web of Science, Cochrane Library and the registry of North American clinical trials. The strategy was completed by cross-referencing and with the use of free terms like “genetic or genomic, risk, prediction or score, cardiovascular disease, genomic markers, risk factors, and primary prevention”. Alert systems were activated in all referential databases to ensure the inclusion of relevant studies in the analysis until the publication of the report. An update of the search was released on Medline in May 2019. Two investigators performed the selection, critical appraisal, data extraction and evaluation of the risk of bias of the included studies independently,resolving the discrepancies by discussion and consensus.
Project Status: Completed
Year Published: 2020
English language abstract: An English language summary is available
Publication Type: Mini HTA
Country: Spain
MeSH Terms
  • Cardiovascular Diseases
  • Genetic Testing
  • Genetic Predisposition to Disease
  • Risk Factors
  • Mass Screening
  • Predictive Value of Tests
  • Risk Assessment
Organisation Name: Andalusian Health Technology Assessment Area
Contact Address: Area de Evaluacion de Tecnologias Sanitarias Sanitarias de Andalucia (AETSA) Avda. Innovación, s/n Edificio Arena 1. Sevilla (Spain) Tel. +34 955 006 309
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Copyright: Andalusian Agency for Health Technology Assessment (AETSA)
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.