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

BMC Cardiovascular Disorders

Study Protocol

Sabrina Bernardez-Pereira¹  Fabiana Goulart Marcondes-Braga²  Alfredo José Mansur²  Fábio Fernandes²  Fernando Bacal²  Joceli Mabel Rocha Spina³  Alexandre Costa Pereira³  Luciana Gioli-Pereira³  José Eduardo Krieger³  Rafael Muniz Miranda da Silva³  Noely Evangelista Ferreira³ 

[1] Fluminense Federal University, Niteroi, Rio de Janeiro, Brazil;Heart Institute (InCor) of University of São Paulo Medical School, São Paulo, Brazil;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, 05403-000, São Paulo, SP, Brazil;

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

DOI  :  10.1186/1471-2261-14-32

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

来源: Springer

【 摘 要 】

BackgroundStudies 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/DesignPatients 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.DiscussionBuilding 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 registrationCurrent Controlled Trials NTC02043431.

【 授权许可】

Unknown   
© Gioli-Pereira et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.