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

BMC Cardiovascular Disorders

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

[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;Heart Institute (InCor) of University of São Paulo Medical School, São Paulo, Brazil;Fluminense Federal University, Niteroi, Rio de Janeiro, Brazil

关键词: Cardiovascular outcomes;    Electronic data;    Genome-wide association;    Biobank;   

Others  :  855297
DOI  :  10.1186/1471-2261-14-32

 received in 2014-02-10, accepted in 2014-02-25,  发布年份 2014

【 摘 要 】

Background

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.

Methods/Design

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.

Discussion

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.

【 授权许可】

   
2014 Gioli-Pereira et al.; licensee BioMed Central Ltd.

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