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Today, many companies offer single nucleotide polymorphism (SNP) tests to optimize diet and lifestyle and target supplement regimens. This series examines the science behind nutrigenetics and asks how useful is this technology in the clinic? How can we use nutrigenetics in the clinic to improve outcomes for our patients? What tests are available, how do you interpret the results, and what are the costs?
In part two of this three part series, Dr Carissa Doherty ND joins host E Brian Johnson to share her experience using nutrigenetics in clinical practice.
Key Take-Aways
Therapeutic uses of SNP testing
Nutrigenetics testing is one piece of the diagnostic toolbox. Just like bloodwork, it will reveal a piece of the medical puzzle. A useful construct is to understand SNPs as enzymes - or moving systems.
There is a precursor that instigates a process, then there is a SNP that modifies that precursor, creating another substance at the end. It is always a moving system.
The question is whether a SNP interferes with a normal metabolic pathway by modifying enzyme actions along that system, which you can resolve by perhaps modifying the precursor.
Case Study 1
“A four-year-old boy was brought into the clinic who had 50 seizures a day; he was highly medically challenged and extensively medically worked up. He was on a number of medications which were not working, so we looked at his bloodwork and then his genetics. His creatine was low and he presented with a GAMT mutation. The GAMT enzyme makes creatine in the body. We gave the precursors and the post product, creatine, and the seizures went away”.
Dr Carissa Doherty
Case Study 2
A female patient presented with hormone issues, dry skin and significant irritability; her irritability was quite noticeable to staff. However, when we did her genetic testing, we saw that she had three homozygous PEMT mutations. The PEMT pathway is what makes phosphatidylethanolamine (PE). By increasing PE we resolved the problem. We did a follow-up visit after a month and when she was leaving, my staff turned to me and asked, “What did you do?”.
Dr Carissa Doherty
Key Quotes
“It's a learning curve. But once you start to learn about it, you can't unsee it. It's pretty interesting. So I like it as a tool. Now, so I don't know how to go back.”
- Dr Carissa Doherty
“My job is just like an investigator. I figure out where the pathway is, where I can have an impact on that mechanism and then assess that in a patient's symptoms or functionally in lab work.”
- Dr Carissa Doherty
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The opinions expressed in this Nutramedica program are those of the guests and contributors. They do not necessarily reflect the opinions of Nutritional Fundamentals For Health Inc.
This video is intended for licensed or registered health professionals and students of health professions only. These statements have not been evaluated by the Food and Drug Administration. Information contained in these programs are not intended to diagnose, treat, cure or prevent any disease.
