Genetic and ElectroNic MedIcal Records to Predict OUtcomeS in Heart Failure Patients (GENIUS-HF) - Design and Rationale

Overview

Journal BMC Cardiovasc Disord

Publisher Biomed Central

Specialty Cardiology & Vascular Diseases

Date 2014 Mar 6

PMID 24592820

Citations 4

Authors

Luciana Gioli-Pereira

Sabrina Bernardez-Pereira

Fabiana Goulart Marcondes-Braga

Joceli Mabel Rocha Spina

Rafael Muniz Miranda da Silva

Noely Evangelista Ferreira

Fernando Bacal

Fabio Fernandes

Alfredo Jose Mansur

Jose Eduardo Krieger

Alexandre Costa Pereira

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Exhaled breath acetone for predicting cardiac and overall mortality in chronic heart failure patients.

Marcondes-Braga F, Gioli-Pereira L, Bernardez-Pereira S, Batista G, Mangini S, Issa V ESC Heart Fail. 2020; 7(4):1744-1752.

PMID: 32383349 PMC: 7373929. DOI: 10.1002/ehf2.12736.

Predictors of one-year outcomes in chronic heart failure: the portrait of a middle income country.

Gioli-Pereira L, Marcondes-Braga F, Bernardez-Pereira S, Bacal F, Fernandes F, Mansur A BMC Cardiovasc Disord. 2019; 19(1):251.

PMID: 31706288 PMC: 6842241. DOI: 10.1186/s12872-019-1226-9.

Genomic ancestry as a predictor of haemodynamic profile in heart failure.

Bernardez-Pereira S, Gioli-Pereira L, Marcondes-Braga F, Santos P, Spina J, Horimoto A Open Heart. 2016; 3(2):e000434.

PMID: 27547430 PMC: 4975862. DOI: 10.1136/openhrt-2016-000434.

Extraction of echocardiographic data from the electronic medical record is a rapid and efficient method for study of cardiac structure and function.

Wells Q, Farber-Eger E, Crawford D J Clin Bioinforma. 2014; 4:12.

PMID: 25276338 PMC: 4177384. DOI: 10.1186/2043-9113-4-12.

References

Harris P, Taylor R, Thielke R, Payne J, Gonzalez N, Conde J . Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2008; 42(2):377-81. PMC: 2700030. DOI: 10.1016/j.jbi.2008.08.010. View

Rainen L, Oelmueller U, Jurgensen S, Wyrich R, Ballas C, Schram J . Stabilization of mRNA expression in whole blood samples. Clin Chem. 2002; 48(11):1883-90. View

McCarty C, Chisholm R, Chute C, Kullo I, Jarvik G, Larson E . The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011; 4:13. PMC: 3038887. DOI: 10.1186/1755-8794-4-13. View

Miller S, Dykes D, Polesky H . A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3):1215. PMC: 334765. DOI: 10.1093/nar/16.3.1215. View

Dries D . Genetic ancestry, population admixture, and the genetic epidemiology of complex disease. Circ Cardiovasc Genet. 2009; 2(6):540-3. DOI: 10.1161/CIRCGENETICS.109.922898. View

Bocchi E, Arias A, Verdejo H, Diez M, Gomez E, Castro P . The reality of heart failure in Latin America. J Am Coll Cardiol. 2013; 62(11):949-58. DOI: 10.1016/j.jacc.2013.06.013. View

Bocchi E, Marcondes-Braga F, Bacal F, Ferraz A, Albuquerque D, Rodrigues D . [Updating of the Brazilian guideline for chronic heart failure - 2012]. Arq Bras Cardiol. 2012; 98(1 Suppl 1):1-33. DOI: 10.1590/s0066-782x2012001000001. View

McCarty C, Chapman-Stone D, Derfus T, Giampietro P, Fost N . Community consultation and communication for a population-based DNA biobank: the Marshfield clinic personalized medicine research project. Am J Med Genet A. 2008; 146A(23):3026-33. PMC: 2588646. DOI: 10.1002/ajmg.a.32559. View

McMurray J, Adamopoulos S, Anker S, Auricchio A, Bohm M, Dickstein K . ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the.... Eur Heart J. 2012; 33(14):1787-847. DOI: 10.1093/eurheartj/ehs104. View

10.

Kohane I . Using electronic health records to drive discovery in disease genomics. Nat Rev Genet. 2011; 12(6):417-28. DOI: 10.1038/nrg2999. View

11.

Cervo S, Rovina J, Talamini R, Perin T, Canzonieri V, de Paoli P . An effective multisource informed consent procedure for research and clinical practice: an observational study of patient understanding and awareness of their roles as research stakeholders in a cancer biobank. BMC Med Ethics. 2013; 14:30. PMC: 3734192. DOI: 10.1186/1472-6939-14-30. View

12.

Marcondes-Braga F, Gutz I, Batista G, Saldiva P, Ayub-Ferreira S, Issa V . Exhaled acetone as a new biomaker of heart failure severity. Chest. 2012; 142(2):457-466. DOI: 10.1378/chest.11-2892. View

13.

McKee P, CASTELLI W, MCNAMARA P, Kannel W . The natural history of congestive heart failure: the Framingham study. N Engl J Med. 1971; 285(26):1441-6. DOI: 10.1056/NEJM197112232852601. View