Should I get genetic tests?

I believe that genetic testing should be chosen on a very individual basis with an emphasis on those tests for which there is a treatment decision that can change the gene expression.  Doing a large expensive battery of genetic testing in low risk individuals with no plan to use them to change lifestyle or treatment can get expensive and confusing.

Let’s discuss some examples.

9p21 is the Heart Attack Gene, the one to Beat as the title of Dr. Bale and Dr. Doneen’s book suggests.  But there is no specific treatment for it.  Its presence could motivate someone sitting on the fence about some treatments, but for the most part I rarely order it.

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

ApoE genotype 4 increases the 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.  But if other dietary priorities, like reducing carbs due to insulin resistance, are a priority, maybe it won’t matter.

One genetic test is worth the money in patients with Type 2 Diabetes and insulin resistance or prediabetes.  Haptoglobin genotype 1-1 is the lowest risk, 1-2 increases your risk by 200%.  Both experience more events if given vitamin E! 

Haptoglobin 2-2 increases risk by 500%!  But guess what!  Vitamin E reduces much of that risk!  Now that is cool to know!

But if we don’t know your genotype, we can guess and be wrong about 50% of the time.  Isn’t $350 (a dollar a day for an extra year, less if you live even longer) invested one time worth saving your life?  I thought so.    

It’s easy to procure these tests.  The results are based on saliva, and the results are available in about a week.

Personalized Testing

There is a scientific understanding of the arterial disease behind heart attack and stroke that is not part of mainstream care. New tests enable the Center for Prevention Heart Attack and Stroke to provide more individualized and effective treatments.  Here are a few of the tests:

  • Carotid Intima Media Thickness testing (CIMT). CIMT measures arterial wall thickness. A thick artery is a sick and “older” artery. This indicator of arterial inflammation tends to predict formation of atherosclerotic plaque and related events. This is more important than “blockage” in predicting new unstable plaque formation. Unstable plaque causes heart attacks and strokes. Proactive Optimal Care can reverse arterial disease and make arteries healthier.

  • LpPLA2, also known as the PLAC test, rises when arteries are inflamed or “hot.” You want your arteries to be “cool.” It can be improved with a less inflammatory diet, exercise, reduction in insulin resistance, supplements and medications.

  • Myeloperoxidase (MPO) rise should trigger a search for inflammation, especially from the mouth. It is an indicator or inflammation and erosion of the inner lining of the artery known as the endothelium. A sudden rise should trigger a search for the oral inflammation that can trigger arterial inflammation and heart attacks.

  • Microalbumin/Creatinine ratio (MACR) tends to rise when blood pressure is poorly controlled. It means the endothelium integrity has been compromised, allowing protein (microalbumin) to leak into the urine. You don’t want a leaky endothelium; it tends to also be prone to invasion by lipids and maybe bacteria that enter the blood stream from the mouth.

  • Genetic testing can inform you of your risk and motivate change in lifestyle and preventive treatment. It can also guide the choice of the most effective and safe medication and diet. The earlier these results are known, the more beneficial and cost effective because their one time cost can be amortized over a longer lifetime. If you have already suffered from arterial disease, it is important to be as precise and personalized as possible in your care.

  • Haptoglobin genotype (Hp) determines if Vitamin E offers powerful protection (Hp2-2) or increases risk (Hp 1-1 and 1-2). In addition, those who are 2-2 are more sensitive to gluten, forming an inflammatory mediator call zonulin that makes your gut “leaky” and raising the risk of autoimmune disease. This is the most powerful example of Personalized or Precision Medicine we offer.

  • Testing for insulin resistance (prediabetes) is important to identify those who could be developing vascular complications well before they are diagnosed with Type 2 Diabetes. Visceral Fat Level, measured on the InBody 570, provides the earliest detection of and the ability to monitor insulin resistance response to changes in what and when we eat. A 2 hour oral glucose tolerance test can identify insulin resistance long before the glucose starts to rise.

  • Coronary Artery Calcium Score (CACS) detects mature calcified plaque in coronary arteries, but can miss new plaque. It is not useful in monitoring therapy benefit. It is recommended in a more limited role where CIMT does not reveal plaque but there is still suspicion of coronary artery disease. If it detects disease that would have otherwise been undetected, a more proactive approach to address root causes will be recommended.

  • Home Sleep Testing and automated CPAP have made the diagnosis and management of Sleep Apnea more affordable and effective. Sleep Apnea is a root cause for heart attack and stroke. Treating it can lower your risk of heart attack and stroke, lower your blood pressure and reduce inflammation.

  • Oral DNA (MyPeriopath) testing can determine if you have certain bacteria in the mouth that are associated with a higher risk of arterial inflammation. In some cases, this can have a significant effect on management of periodontal inflammation which contributes to heart attack and stroke risk. Knowing the nature of your oral “neighborhood” can prompt a more proactive approach to cleaning up the neighborhood. The chronic diseases affected by your oral microbiome include periodontal disease, cardiovascular disease, Type 2 Diabetes and prediabetes, and even some cancers and dementia.

  • Personalized Genomic Testing offers insight into risk of disease and individual differences in drug metabolism, benefit and risk. This is especially valuable for those taking multiple medications and supplements that can interact, causing potential for harm. An interactive website allows predictive modeling of the effect of changes in therapy.