Medical informatics, biobanks and genomics research enriches evidence-based medicine, says expert
With certain genetic type involved in heart disease in Filipinos, you can get some idea of which molecular targets should be good for the development of new drugs,” said Ms. Ma. Luisa Daroy, Scientist I, Research and Biotechnology Division of the St. Luke’s Medical Center (SLMC) during the Metro Manila Health Research and Development Consortium (MMHRDC) Research Forum for World Heart Day last October 10, 2012 at the Adamson University.
The genetic uniqueness of each individual is reflected in the different signs of heart disease in a patient. Knowing one’s genetic profile provides deep insight into the biological dynamics of heart disease which can guide the doctors in managing their patients.
"In a disease-focused research, the key component is a combination of medical informatics, systematized specimen archiving, and genetic profiling,” explained Dr. Daroy.
To determine the genetic profile of coronary artery disease (CAD) patients observed at the Heart Institute in SLMC, the Genomics and Cardiovascular Medicine Initiative (GCMI) of SLMC embarked on a long-term program of research that covers Cardiovascular Disease Information System (CVDIS), GCMI Biobank and CVD Genomics Research.
"We integrated this to facilitate our genetic variation profiling where genomics work in response to the lack of genetic data on Filipinos in the web. If we look at the genetic data on the internet, you will see that it is really voluminous and there are very large scale efforts to document the genetic variations in different population. But sadly for Filipinos, it is very sparse,” reported Ms. Daroy.
To address the situation, the SLMC created the first component of this integrated approach which is the CVDIS. This involves the electronic archiving of patient information, clinical symptoms, laboratory results, treatment regimes and clinical outcomes. This informatics accompanies the systematic collection of blood samples from patients who were examined at SLMC for coronary artery disease (CAD).
According to Ms. Daroy, researchers isolated serum, plasma and deoxyribonucleic acid (DNA) from the blood samples of patients. Specimen quality is assessed periodically to ensure its usefulness for research.
“Our patients were required to sign informed consent prior to enrolment in the GCMI Biobank. We have several review process. All patients were made to understand that they can withdraw their samples from the Biobank at any time,” clarified Ms. Daroy.
Patient DNA is then analyzed for genetic variations, specifically single nucleotide polymorphisms (SNPs), in several genes that have been previously reported to be associated with CAD. Allele and genotype frequencies are calculated and usefulness of a SNP as risk factor for CAD is assessed statistically. Researchers used TaqMan Genotyping System which is a faster, cheaper and more efficient way of doing the genotyping.
Ms. Daroy said, “This is an initial report on the first genomics data generated on Filipinos with CAD. This patient-centered strategy for research produces a wealth of information that enriches evidence-based medicine with previously unforeseen options for health promotion, preventive care, risk reduction and appropriate cure.”
Written by Rachel Ann Doreen D. Nadal
