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Genomic TESTING - To Do or Not To Do?

By Shaun Dyler, ND, LAc

Typically, naturopaths lead the way in preventive medicine. Now, cutting-edge science gives us the chance to continue that trend. DNA testing, which has gathered headlines and advocates in recent years, is just such an opportunity.

Let's face it, any test that can help us more specifically fine-tune our nutriceutical recommendations ought to be considered. Too often, patients come in taking way too many supplements overall, but not the ones they really need. That's not just a waste of their money - it could cause real harm.

In his book The Next Trillion, best-selling author, economist and futurist Paul Zane Pilzer writes: "By examining a person's DNA, which can be taken from the mouth with just a small swab or scraping device, it is already possible to predict the probability that a person will develop certain diseases. And soon, based on the recently completed mapping of the human genome, it should be possible to predict every forthcomingdisease or condition not caused by external (i.e., diet and exercise) factors."

Are we there yet? Most physicians would argue that genomic science is still young - we might be five to 10 years away from really being able to offer complete genetic profiling to cover all gene-related health issues. And, while there are millions of single nucleotide polymorphisms (SNPs), and many more that haven't been discovered yet, we do have enough knowledge of "functional" SNPs that have high disease associations.

For those of you new to genomics, SNPs simply are small differences in the DNA sequence that produce a different biochemistry. SNPs are common - these genetic side roads are responsible for the differences between all of us. Certain SNPs might simply predispose an individual to a condition or disease. "Functional SNPs" are those with strong health risks or disease associations. At this point, relatively few detectable SNPs cover the majority of the biggest health concerns in our patients.

The test I have done on myself includes 12 SNPs that cover some key health implications for cardiovascular disease, cancer, bone health and neurological disorders. From a naturopathic standpoint, these same SNPs have implications for functional medicine in terms of suboptimal health, including fatigue, fibromyalgia, poor detoxification and premature aging. Fortunately, I only had two "heterozygous positive" SNPs - that is, from one parent. Most of the time, individuals inherit SNPs from both parents and therefore have an even higher chance of disease association. My two SNPs were for the gene that codes for manganese superoxide dismutase (SOD2) and glutathione peroxidase (GPX1). Research shows that men who were homozyogous positive for SOD2 had a 70 percent increased risk for prostate cancer compared to those who were homozygous negative. Perimenopausal women with certain variations of this SNP showed a fourfold increased risk of breast cancer.

Does having a SNP mean that one will get that illness associated with it? Not necessarily. Unlike phenotype expressions like eye color, "functional SNPs" can be modified by drug or nutrient intervention, or lifestyle change. Although the treatment race is on for finding drugs that will modify these genetic expressions, there are common sense measures that can be taken to address these SNPs.

Two obvious examples are the MTHFR and NQO1 SNPs. "MTHFR" stands for methylenetetrahydrofolate reductase and is one of the enzymes responsible for converting folic acid into its active form. So, a simple solution is to recommend that individuals with this SNP from both parents supplement with higher amounts of an active folic acid to help prevent a host of conditions associated with folic acid deficiency. The NQO1 gene converts CoQ10 (ubiquinone) to its active form ubiquinol. Once again, intervention can consist of using the active form of CoQ10 as a supplement.

I know one of my colleagues who would have liked to have had this information 10 years ago. He was fit as a whistle and had played professional tennis for most of his life. But, by the age of 40, he suffered both a heart attack and a stroke. His genomic test - taken one year ago - revealed some key cardiovascular weaknesses that most likely could have been prevented with the nutritional regime he currently is on today. All naturally based on recommendations from his genetic test.

Why not just run a whole host of blood tests to determine active risks? While blood tests for a variety of parameters still are necessary during active health problems or for some preventive measures, such as cholesterol checks, genetic tests help answer the tougher question of how much, if at all, the condition is lifestyle-related. But, the more practical and proactive question is: Who wants to wait until a disease finally manifests itself? How many subclinical symptoms could have been treated beforehand, only by knowing the genetic makeup of the individual? Plus, a genetic test on one particular SNP only has to be done once - yes, even your children can have it done and the test results can provide vital information throughout their lives.

What about the costs and insurance billing? Although genetic testing is not inexpensive, the insight you gain about your patients and the knowledge patients gain about themselves literally could mean the difference between serious illness and health. And honestly, at this point, insurance companies are not recommended for this type of testing. Not only are they unlikely to cover the test, but there also is the risk of insurance companies using this information for the wrong purposes, such as charging individuals higher rates based on their genetic risk. Instead, I recommend using genetic companies that protect the confidentiality of the end user. Check with the suppliers to ensure this is happening. In terms of price, the cost per single SNP can range anywhere from $15 to $50. Once again, shop around to determine the best fit for your patients. Different companies offer different panels of SNPs at wide ranges of prices and with different levels of clinical validation and relevance.

One thing is for certain: Either you become the expert in helping your patients assess their genetic risk, or someone else will. My hope is that naturopaths will continue to embrace and advance our knowledge of medicine and become leaders in genomics, too.

References

  1. Paul Zane Pilzer. The Next Trillion. ZCI Incorporated, 2001.
  2. Ambrosone CB, Freudenheim JL, Thompson PA, et al. Manganese superoxide dismutase (MnSOD) genetic polymorphisms, dietary antioxidants, and risk of breast cancer. Cancer Res 1999 Feb;59(3):602-606.
  3. Woodson K, Tangrea JA, Lehman TA, et al Manganese superoxide dismutase (MnSOD) polymorphism, alpha tocoperol supplementation and prostate cancer risk in the Alpha Tocopherol, Beta Carotene Cancer Prevention Study (Finland). Cancer Causes Control 2003 Aug;14(6):513-518.
  4. Moscow JA, Scmidt L, et al. Loss of heterozygosity of the human cytosolic glutathione peroxidase gene 1 in lung cancer.' Carcinogenesis 1994 Dec; 15 (12): 2769-2773.
  5. Gaughan DJ, Kluijtmans LA, et al. The methionine synthase reductase (MTRR) A 66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Athersclerosis 2001;157(2):451-456.

About the Author: Shaun Dyler, ND, LAc, has a Bachelor of Science from the University of British Columbia, a Doctorate of Naturopathy from National College of Naturopathic Medicine and a Master in Acupuncture and Oriental Medicine from Oregon College of Oriental Medicine. Dr. Dyler currently has a private practice in Portland. He can be reached at s.dyler@att.net.



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Date Last Modified - Friday, 17-Oct-2008 12:10:48 PDT