Did you know that genetic testing plays a vital role in the prevention and management of cardiovascular medicine?
The test analyses an individual's DNA to identify specific gene variants associated with an increased risk of various cardiovascular diseases, like inherited cardiomyopathies, arrhythmias, and familial hypercholesterolemia. By examining a blood sample or saliva, technicians can pinpoint genetic mutations that might predispose someone to these conditions, even before symptoms manifest.
Once the genetic data is obtained, then a clinical geneticist or cardiologist interprets the results in the context of the patient's family history, clinical presentation, and other relevant factors. This comprehensive approach helps to determine the individual's risk profile and guide personalized treatment strategies leading to more effective and tailored cardiovascular care.
Dr. Andrew Landstrom, director of the Cardiovascular Genetics Department of Pediatrics at Duke University School of Medicine, underscored the benefits of Genetic testing, specifically for diagnosing and managing cardiac channelopathies like long QT syndrome, CPVT, and Brugada Syndrome, during the Preconvention Advocacy Hour.
In his discussion, “The Role of Precision Medicine in Cardiovascular Disease,” Landstrom cited Gene-Specific Management Examples. These are “RYR2 mutation (CPVT): Best treated with natalol and flecainide; ICDs often contraindicated; SCN5A mutation (Brugada): Avoid natalol/flecainide; ICD often recommended; and KCNQ1 mutation (long QT): Treatment varies by variant; gene testing more reliable than ECG in some cases.
“That’s why gene testing is better than a standard ECG (electrocardiogram) because you can better modify the risk factor. Just as you already heard, family predictive testing is important, but only if you have a diagnostic variant,” Landstrom said.
Moreover, Dr. Eva Marie Cutiongco Dela Paz added that genetic testing can guide timely treatments, assess risk in asymptomatic individuals, and inform personalized management.
Her discussion on “Genomic in Practice” included the steps in Genetic Assessment such as constructing a three-generation pedigree; evaluating lipid profiles, family history of heart disease, and signs like tendon xanthomas; and refer patients for genetic counselling and testing.
Dela Paz also cited the challenges in the Philippines in the field of genetic testing. These include lack of national Familial Hypercholesterolemia data; Filipino genetic variants being underrepresented in global databases; and local genome projects in need for better variant interpretation.
She also revealed the existing rate of Genetic testing in the Philippines which is between P28,000 and P30,000 which already includes the courier fee.
“Usually, the laboratories give a turnaround time of between 14 and 21 days. Based on my personal experience, we obtain results in as early as 10 days,” Dela Paz added.
Meanwhile, Dr. Abner Bon Maceda, highlighted the growing importance of genetics and genomics in modern healthcare in his discussion on the “Basic Concept of Genetics and Genomics.”
“As we have been seeing now, modern medicine is increasingly shifting towards genetics and genomics, enabling more precise, personalized, and predictive healthcare by using an individual's genetic information to guide diagnosis, treatment, and prevention of disease,” Maceda said.
He explained that taking a detailed family history and performing pedigree analysis are essential tools in medical practices as they help identify patterns of inherited conditions, assess genetic risks, and guide appropriate screening, testing, and preventive interventions for patients and their families.
“Genetic counselling is a vital component of healthcare that provides individuals and families with information, support, and guidance to understand and adapt to the medical, psychological, and familial implications of genetic conditions, enabling informed decision-making and personalized care,” Maceda concluded.
Dr. Andrew Landstrom
Drs. Erner Bong Maceda, Eva Marie Cutiongco-Dela Paz, Andrew Landstrom, Luigi Pierre Segundo & Maria Johanna Viilanueva
