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Genetic Testing

Genetic variations can have a strong influence on how well patients respond to different treatments. Understanding the variations in certain genes can help identify the right medications, the right dosage or the right lifestyle choice for the patients.

For example, 60% of the patients who stopped taking a statin cited muscle pain as the primary reason for discontinuation. Boston Heart offers an exclusive Statin Induced Myopathy (SLC01B1) Genotype test to identify which patients are at a higher risk for myopathy and gives treatment consideration on how to prescribe the right dose of medication. I very rarely prescribe statins, but having genetic information broadens my tool box of the different ways we can help a patient.

Genes are not your destiny, however. Genetic predisposition is like having a loaded gun. The environment that those genes are exposed to determine whether or not the gun will fire. THe fascinating study of epigenetics has clearly demonstrated that genes are like a road map, with all the possible roads to take. Lifestyle, nutrition, hydration, emotional health, stress, sleep and exercise, amongst many other factors, determine which road the patient will take and their ultimate health.

Genetic medicine takes personalised medicine to a new level.

4q25 Atrial Fibrillation Genotype Test

It helps identify individuals with an increased risk of atrial fibrillation (AF) and stroke.
Found in approximately 20% of the population, have been associated with a significant 1.4- 1.5 fold risk of atrial fibrillation. This association has been observed in multiple studies, and is especially apparent in subjects over age 60 years.

9p21 CVD Risk Genotype Test

This test identifies individuals who may be at an increased risk of premature CVD which allows for risk stratification and more aggressive management of modifiable risk factors. Found in about 40% of the population and associated with a 1.5-2.0 fold increased risk of cardiovascular disease in carriers versus non- carriers, according to population studies.

Apolipoprotein E genotype Test (apoE)

critical component of very low- density lipoprotein (VLDL) and chylomicrons. This test helps with lifestyle modifications and risk reduction to mitigate heart disease.

E2- (15%) associated with decreased uptake of cholesterol from the liver.
E3- (65%) lower total cholesterol
E4 (20%) Higher LDL levels, higher absorption of cholesterol from intestines, higher uptake of intestinal cholesterol in the liver. Associated with higher risk of Alzheimer’s disease

Clopidogrel (Plavix) Response (CYP2C19) Genotype Test

Clopidogrel (Plavix) is a commonly prescribed anticoagulant after a heart attack, or cardiac stent placement. By itself Clopidogrel is an inactive medication (pro-drug), which needs to be converted in the liver to its active form. in the liver.

This test identifies individuals who have reduced metabolism of clopidogrel, requiring higher amounts of the drug in order to reach an efficacious dose of the active agent and those who require a different agent, because they do not metabolise Clopidogrel to its active form.

Prothrombin (Factor II) G20210A Genotype Test

Identifies individuals at risk for life threatening blood clots such as DVT’s (deep vein thrombosis) and PE’s (Pulmonary Emboli) . The genetic test identifies individuals with defects in the clotting factors, thus allowing the physician to determine the need for more aggressive thrombosis prevention measures for those individuals. Such therapy can help prevent life threatening clots, especially those that travel from veins in the legs to the lungs.

Factor V Leiden Genotype Test

Identifies individuals at risk for life threatening blood clots such as DVT’s (deep vein thrombosis) and PE’s (Pulmonary Emboli) . The genetic test identifies individuals with defects in the clotting factors, thus allowing the physician to determine the need for more aggressive thrombosis prevention measures for those individuals. Such therapy can help prevent life threatening clots, especially those that travel from veins in the legs to the lungs.

LPA Aspirin Benefit Test

This test identifies an individual who are at risk of having elevated plasma lipoprotein (a) or LP(a), and may have a greater than two-fold risk of cardiovascular disease (CVD). The risk has been shown to be normalised with a low dose aspirin therapy.

MTHFR Genotype Test

MTHFR (methylenetetrahydrofolate reductase) is an enzyme responsible for metabolizing folate to methyl folate which, in turn, is essential for converting homocysteine to methionine. Homocysteine is an essential amino acid and plays an important role in metabolism, however at high levels it is related to an increased risk of cardiovascular disease (CVD), especially stroke.

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