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:

1. 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.

2. 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.

3. 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.

4. 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.

What is lipoprotein A/Lp(a)? Why could it put me at high risk for heart attack and stroke?

Lipoprotein A or Lp(a) is a subtype of LDL cholesterol. The BaleDoneen Method calls Lp(a) the "mass murderer" because elevated levels of Lp(a) triples your risk of heart attack and stroke. At the CureCenter, we call it the “worst” or “really bad” cholesterol. Think of it as “highly flammable” lipid.

Elevated Lp(a) affects around 30% of the population, yet it is not included in standard lipid testing. Why?

In the past, the test for Lp(a) was expensive. Today, it only costs about $10 and is becoming more common, yet still not routine. Change in practice tends to be slow, particularly in bureaucratic systems designed to keep revenue flowing through interventions. New drugs and associated revenue are on the horizon, potentially explaining a resurgence in interest.

What causes elevated Lp(a)?

Elevated Lp(a) is a genetically determined root cause with little impact from lifestyle or medications.

Genetics determines Lp(a) levels. You are much more likely to have elevated Lp(a) if you have a family history of high Lp(a).

Why does elevated Lp(a) increase risk for heart attack and stroke?

Lp(a) is made of cholesterol, protein, and fat. Elevated levels (>75 mg/dl) increase the likelihood of development of atherosclerosis, leading to heart attack and stroke. Elevated Lp(a) also increases the risk of calcific aortic stenosis, a valve disease that can lead to heart failure. Finally, it accelerates blood clotting. When atherosclerotic plaque ruptures, a blood clot forms more rapidly to occlude blood flow leading to a stroke or heart attack.

When combined with high levels of inflammation, elevated Lp(a) fuels that inflammation in the artery wall and leads to the formation of plaque.

Lp(a) is not included in standard lipid panels ordered by most doctors. It should be.

While its effect is often lost in the statistics of large population studies, Lipoprotein (a) can be dangerous for the minority with significantly elevated levels. For this reason, everyone should have it measured once, especially if you have:

• Family members who have had a heart attack or stroke at an early age

• Premature vascular disease in the absence of other usual risk factors

• Familial hypercholesterolemia

• Family history of elevated Lp(a)

If your Lp(a) is tested and at a normal level, you will not need a repeat test. Your levels will not rise. However, if it is very high, you and your relatives should know, as they could be at high risk as well. 

How are elevated levels of Lp(a) treated?

Niacin is the most effective supplement/drug to reduce levels of Lp(a). We have also witnessed response to Bergamot BPF, an effect we have not seen reported in the literature but have observed incidentally. In our experience Bergamot BPF has had a favorable effect that rivals or exceeds niacin in some cases, and it reduces insulin resistance,a highly prevalent root cause of atherosclerosis.

Lifestyle and statins tend to have very little effect on reducing high levels of Lp(a). They can, however reduce inflammation contribution to disease and cardiac events. Therefore, knowing about the increased risk from Lp(a) can motivate more proactive measures to control these other root causes more optimally.

Knowing about the presence of this "mass murderer" in your body will make healthy diet, exercise, and other risk reductions more imperative. Information is empowering. Become aware of Lp(a) - the “worst” or “really bad” cholesterol.

For further reading on Lipoprotein A, we recommend the BaleDoneen website.

Do your genes make you more susceptible to heart attack?

Genetics play a significant role in whether you will have a heart attack or stroke. However, though we cannot yet alter our genes, we can “hack” them.  Some genetic information can determine optimal treatment choices for you that may or may not be right for others, even those in the same family. 

Lifestyle choices and environmental exposure can change the way our genes are expressed (how the body uses information in our genes to create proteins and other molecules). This concept is called epigenetics.

Our genes are a blueprint for our bodies, but epigenetic changes can influence which genes are turned on or off. These changes can be passed down from one generation to the next, and can also be affected by our diet, exposure to toxins, and other factors. Studying epigenetics can help us understand how these changes occur, and how they may contribute to the development of diseases such as cancer and heart disease.

Genetic testing is becoming more affordable. Since it only needs to be done once, it can actually be quite cost-effective even if insurance plans don’t cover the costs.

What types of genes are analyzed during genetic testing at The CureCenter for Chronic Disease?

Here are some, but not all, genes that are analyzed during genetic testing that may indicate risk of heart attack:

• Haptoglobin Genotype:

  • Haptoglobin genotype 1-1

    • Lowest risk for vascular disease events

    • Vitamin E increases risk of vascular events

  • Haptoglobin genotype 1-2

    • Increases your risk by 200%

    • Vitamin E increases vascular event risk in this group as well.

    • Gluten increases chronic inflammation moderately. Gluten avoidance is optimal

  • Haptoglobin genotype 2-2

    • Increases risk of vascular events by 500%! 

    • Vitamin E mixed tocopherols reduces cardiovascular risk! Now that is cool to know! 

    • Gluten also provokes a significant increase in inflammation in the gut for this genotype. Therefore, gluten should be avoided by individuals with this genotype. Gluten avoidance is also important for those who are haptoglobin 1-2 because they are very prone to gluten triggered inflammation.

• ApoE Genotype:  ApoE 4 genes increases risk of Alzheimer’s Disease and arterial disease. It can predict better outcomes with a very low fat diet and no alcohol. If you are willing to modify these choices based on the result, let’s get it. Howver, if other dietary priorities, like reducing carbs due to insulin resistance, are a priority, maybe it won’t matter. ApoE 2 or 3 genes are lower risk for arterial disease and dementia, and generally do well with a low carbohydrate diet with more liberal fat.

• KIF-6 Genotype: KIF-6 genotype determines whether atorvastatin and pravastatin are effective or ineffective at reducing heart attack and stroke frequency. However, if we use rosuvastatin or lovastatin as our preferred statin, it doesn’t matter.  Again, it is useful in a limited set of circumstances. 

• 9p21 Genotype is the Heart Attack Gene. It is the one to beat, as the title of Dr. Bale and Dr. Doneen’s book suggests.  However, there is no specific treatment for this gene. Its presence could motivate someone sitting on the fence about some treatments, but for the most part, we rarely order it since our program is based upon measurable disease, not risk. 

Awareness of higher risk can provoke more proactive efforts on controllable factors. However, if you already have a disease, being “low risk” doesn’t change your plan. You need to act on the disease to put it into remission.

There are other genes that determine how you metabolize medications. This can be important if you are on multiple medications that can interact with one another or require metabolism for elimination or activation. When inquiring about genetic testing, ask your doctor about these genes. Be wary of commercial panels of an array of genetic tests that can add more “noise” than “signal.” 23 and Me offers little useful information for testing that really matters.

Knowing your genetics allows The CureCenter to individualize and personalize your care to lower your risk of having a heart attack or stroke. We offer genetic testing for all and encourage it especially for those who have had a heart attack, stroke, TIA, stent, bypass or signs of dementia to optimize treatment. For others, it enables the best possible choices to personalize your care.  

Our general rule is to order genetic tests that will determine a specific change in choices or prescriptions.

For recommendations on genetic testing, request your complimentary Discovery Zoom Call with Dr. Backs and take the first step toward ensuring a long and healthy life.