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Genetic and ElectroNic medIcal records to predict oUtcomeS in Heart Failure patients (GENIUS-HF) - design and rationale

Luciana Gioli-Pereira1, Sabrina Bernardez-Pereira3, Fabiana Goulart Marcondes-Braga2, Joceli Mabel Rocha Spina1, Rafael Muniz Miranda da Silva1, Noely Evangelista Ferreira1, Fernando Bacal2, Fábio Fernandes2, Alfredo José Mansur2, José Eduardo Krieger1 and Alexandre Costa Pereira1*

Author Affiliations

1 Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor) of University of São Paulo Medical School, Avenue Dr. Enéas de Carvalho Aguiar, 44 Cerqueira César, São Paulo, SP 05403-000, Brazil

2 Heart Institute (InCor) of University of São Paulo Medical School, São Paulo, Brazil

3 Fluminense Federal University, Niteroi, Rio de Janeiro, Brazil

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BMC Cardiovascular Disorders 2014, 14:32  doi:10.1186/1471-2261-14-32

Published: 4 March 2014



Studies adopting electronic medical records and genomic information are becoming widespread. Through this new modality in research, it is possible to study how genetic variants influence susceptibility towards chronic conditions and can improve patient care.

Our aim is to develop a biobank with 2,000 heart failure patients treated in a tertiary cardiology hospital containing electronic medical records data and biologic samples for performing genome-wide association studies for validation and development of medical decision routines aimed at helping the clinical management of patients.


Patients between 18 and 80 years old with heart failure diagnosis of different etiologies and left ventricular ejection fraction ≤ 50% in the past 2 years will be eligible for enrollment on the cohort. After consent, patients will be submitted to clinical baseline, echocardiography, cardiograph impedance and biochemical evaluation. Study data will be collected and managed using Research Electronic Data Capture tools. The follow up will take place every 6 months to assess cardiovascular outcomes (all-cause mortality, cardiovascular mortality, hospitalization for worsening heart failure and current medication use). Initial analytical strategy will focus on the establishment of the accuracy of electronic medical records extraction protocols for main predictor factors of morbidity and mortality in heart failure.


Building a biobank with biologic samples and clinical data of 2,000 heart failure patients we will perform genome-wide association studies. By this way, we pretend to study how genetic variants influence susceptibility towards chronic conditions. Besides, it will be created a working group focused on the development and implementation of algorithms for validation and application of medical routines using the electronic medical records of the Heart Institute (InCor - HCFMUSP).

Trial registration

Current Controlled Trials NTC02043431.

Biobank; Genome-wide association; Electronic data; Cardiovascular outcomes