ABC Heart Fail Cardiomyop 2023; 3(1): e20230011
National Network of Cardiovascular Genomics: Implementing Genetic Diagnosis in Cardiology in the Brazilian Unified Health System
Tais Hanae Kasai-Brunswick
, Dilza Balteiro Pereira de Campos
, Andressa Araújo Braga
, Raquel Tavares Boy da Silva
, Eduardo Back Sternick
, Marisa da Silva Santos
, Helena Cramer Veiga Rey
, Adriana Bastos Carvalho
The Brazilian National Network of Cardiovascular Genomics (RENOMICA) is a research project whose objective is to establish a proof of concept that genetic diagnosis for hereditary cardiovascular diseases is important, feasible, and cost-effective within the Brazilian Unified Health System (SUS). Funded by the Brazilian National Genomics and Precision Health Program (Genomas Brasil) of the Ministry of Health, the study is coordinated by the Brazilian National Institute of Cardiology (INC), with 21 co-participating centers throughout the country. Recruitment, which began in September 2021, is still ongoing. Research participants, with the assistance of genetic counseling, provide a cheek swab sample that can be collected at home, and the study team performs whole exome sequencing in search of gene variants related to the phenotype. The sequencing results are forwarded to the participants, and, if positive for the investigated disease, family members are invited to participate in genetic screening. As a result, we expect to understand mechanisms of incomplete penetrance and variable expressivity in hereditary cardiovascular diseases, construct an economic model to determine the cost-effectiveness of genetic diagnosis of hypertrophic cardiomyopathy in the context of the SUS, and provide information to the database of the Genomas Brasil Program.
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