Is genetic testing worth the effort?
Recommended genetic testing should emphasize tests for which there are meaningful remedies that can change the gene expression. Gene expression is the process by which our genes create proteins that perform different functions in our body, such as building and repairing tissues or fighting off infections.
Genetic testing in low-risk individuals with no plan for lifestyle or treatment changes is expensive, confusing and futile.
What genetic tests are most helpful?
Haptoglobin genotype is very worthwhile, especially those with Type 2 Diabetes, insulin resistance, or prediabetes. Most of us fall into one of these categories!
The cost of this test has decreased significantly over the years. In 2018 the test cost about $400. Now, the cost is $99, a small price for precision in personalized treatment. Because it isn’t offered by Quest or Cleveland Heart Lab, we use Boston Heart Diagnostics and provide you their kit to obtain the proper specimen as close to your home as possible at an affordable cost of $99 out of pocket. It is not covered by insurance, which might tell you the information can actually improve your health and reduce your costs!
How does haptoglobin genotype guide treatment?
The table below outlines the implications of knowing your haptoglobin genotype.
Haptoglobin Genotype Results and Recommendations
Haptoglobin (Hp) 1-1 is the genotype at the lowest risk for vascular events such as heart attack or stroke. Haptoglobin 1-2 doubles this risk (increases it by 200%). Both of these findings indicate that events are more likely to happen if an individual takes daily vitamin E supplements beyond what is contained in a multivitamin or diet.
Individuals with risk of macular degeneration may be taking supplements containing higher amounts of vitamin E. If your specialist is treating you for current macular degeneration, these supplements make sense. However, you should know that there is a tradeoff. Treating the risk of one condition may increase your risk of another. (See the table above for more information.)
Haptoglobin 2-2 genotype increases risk of vascular events by 500% (or 5x the baseline risk). Gluten should be avoided if this genotype is found, as it provokes a significant increase in inflammation, leading to a higher risk of events.
Individuals with the Haptoglobin 2-2 genotype should take a daily dose of 400 IU of Vitamin E mixed tocopherols to significantly reduce cardiovascular risk by 80%! The proof is greatest in those with Type 2 Diabetes, but most of us have the prediabetic curse that was a blessing when we ate like hunter gatherers.
What is the relevance of ApoE genotype?
We don’t order ApoE routinely, but if you want it, we can order it. In select situations, it can help guide dietary choices, but are less relevant if insulin resistance and carbohydrate restriction is the more compelling opportunity. It often adds more “noise” than “signal.”
The Apolipoprotein E (ApoE) genotype is a genetic factor that plays a significant role in various aspects of human health, particularly in relation to lipid metabolism and the risk of developing certain diseases. The ApoE gene encodes a protein that is involved in the transport and metabolism of lipids, including cholesterol, in the body. There are three common variants or alleles of the ApoE gene: ApoE2, ApoE3, and ApoE4.
The relevance of ApoE genotype lies in its association with several health conditions, including:
Alzheimer's Dementia: The ApoE4 allele is the strongest known genetic risk factor for late-onset Alzheimer's disease (AD). Individuals who inherit one copy of the ApoE4 allele from either parent have an increased risk of developing AD, while those who inherit two copies have an even higher risk. But if you are really interested in reducing your risk of dementia, read “Healthy Heart Healthy Brain” by Bale and Doneen and “The End of Alzheimers” by Dale Bredesen.
Cardiovascular Disease: The ApoE genotype is also linked to the risk of developing cardiovascular diseases such as coronary artery disease and stroke. ApoE4 carriers have been found to have higher levels of LDL cholesterol (often referred to as "bad" cholesterol) and an increased susceptibility to atherosclerosis, a condition characterized by the buildup of plaque in the arteries.
Lipid metabolism: The ApoE genotype influences how the body metabolizes lipids. ApoE2 is associated with lower levels of cholesterol and a reduced risk of cardiovascular disease, while ApoE4 is associated with higher cholesterol levels and an increased risk.
Traumatic brain injury (TBI): Research suggests that the ApoE4 allele may be associated with an increased risk of poorer outcomes following TBI, including a higher likelihood of developing neurodegenerative disorders later in life.
It's important to note that while the ApoE genotype can provide insights into an individual's predisposition to certain conditions, it does not determine with certainty whether someone will develop these diseases. Other genetic and environmental factors generally play a more compelling modifiable role, and individual health outcomes are complex and multifactorial. Genetic testing and counseling can help individuals understand their ApoE genotype and its implications, but it's always best to consult with a healthcare professional for personalized advice and interpretation of genetic information.
What is the relevance of KIF6 genotype?
We rarely order the KIF6 genotype. Our preference for rosuvastatin makes it largely irrelevant to guide treatment. If you insist on using atorvastatin, pravastatin or simvastatin, I suggest verifying this is wise based on KIF6 predicting benefit.
The KIF6 (kinesin-like protein 6) genotype refers to a specific genetic variation in the KIF6 gene. This gene has been studied in relation to cardiovascular health and response to certain medications. However, it is important to note that the current understanding of the relevance of KIF6 genotype is limited, and more research is needed to fully understand its implications.
The KIF6 gene variant in question is known as KIF6 719Arg. It has been associated with an increased risk of coronary artery disease (CAD) and heart attacks in some studies. Individuals who carry this genetic variant may have a higher likelihood of developing these cardiovascular conditions compared to those without the variant.
The KIF6 gene has also been investigated in the context of statin medications, which are commonly prescribed to lower cholesterol levels and reduce the risk of cardiovascular events. Some studies have suggested that individuals with the KIF6 719Arg variant may experience a greater reduction in cardiovascular events when treated with statins compared to those without the variant. However, these findings have not been consistently replicated across all studies.
There is evidence that those with the KIF6 719Arg variant get more benefit from atorvastatin and pravastatin than those not carrying that variant. We prefer rosuvastatin as effective despite genetic variation and less prone to exacerbate insulin resistance/diabetes or cross the blood/brain barrier affecting cognition. Most of our patients take 5 mg 3 days weekly or less with benefit documented with blood and ultrasound inflammation measures.
It's important to understand that genetic factors, including the KIF6 genotype, are just one piece of the puzzle when it comes to cardiovascular health. Other factors such as lifestyle choices (e.g., diet, exercise), family history, and other genetic variations collectively contribute to an individual's risk for developing cardiovascular conditions.
Overall, while the KIF6 genotype has shown some associations with cardiovascular health and response to statin therapy, its clinical utility is still being explored, and further research is needed to determine its exact relevance and potential implications in healthcare practice.
For more information about genetic testing see our post about genes and how they affect your risk of heart attack.