Day 3 of 12 – PGx and NGx Education

Published on by Jeri Category: Musings

Day 3 of 12 Education:

Our genetics play an important role in how we respond to pain medication, including opioids. Have you ever known someone who says codeine does nothing for their pain? Or perhaps you know someone who says codeine makes them feel really sick and out of it?

Codeine itself can be a great cough suppressant, but it provides little pain relief. To get pain relief from taking codeine, your body needs to convert it to morphine. This conversion largely takes place via an enzyme called CYP2D6. Similar to codeine, tramadol also requires conversion to a more active form in order to provide pain relief.

If you make little to no CYP2D6 enzyme, you are said to be a poor metabolizer. If you make more than 2.25 times the normal amount of CYP2D6 enzyme, you are said to be a rapid metabolizer.

Poor metabolizers are unlikely to get pain relief from codeine and tramadol. Rapid metabolizers are more likely to develop toxicity, which can include nausea, vomiting, extreme tiredness, confusion, shallow breathing and even death.

Approximately 6% of European Caucasians are poor metabolizers, with most other ancestries having ~2% of the population as poor metabolizers. Most people will be normal or intermediate metabolizers of CYP2D6. The individuals most likely to be rapid metabolizers are those of Hispanic, African American and Near Eastern ancestry.

Aside from guessing your metabolizer status based on your reaction to medication, the best way to know is a pharmacogenomic test performed on a simple cheek swab.

Day 2 of 12 – PGx and NGx Education

Published on by Jeri Category: Musings
Day 2 of 12 Education:

I use the nutrigenomics test from a company called 3X4 Genetics. The test looks at variants in more than 130 genes.

Three of the genes studied are involved in the body’s use of vitamin D. My genetics suggest I have a difficult time converting vitamin D (both from the sun and from food) to its more active form, vitamin D3.

Therefore, it may be difficult to obtain enough vitamin D naturally. Vitamin D isn’t just important to bone and teeth health. It is also necessary to maintain optimal control of blood pressure, reduce inflammation, and support immune function, as well as hormone regulation and brain function.

Solution? Try to get adequate sunlight exposure around noontime. Eat more foods high in vitamin D (eggs, fish, milk, mushrooms) and supplement with vitamin D3 (NOT vitamin D2).

My blood level of vitamin D3 without supplementation was 32, with 30-100 being considered normal. Many functional medicine experts consider optimal levels to be greater than 50 or 60. And did you know, individuals with vitamin D levels over 50 at the time they contracted COVID seldom developed severe disease and seldom died? Vitamin D is VERY important for your immune system!

What might your nutrigenomics report tell you? To see a sample test, visit https://dna.3x4genetics.com/…/3X4GeneticsSampleBlueprin…

Day 1 of The 12 Days of Pharmacogenomics and Nutrigenomics Education

Published on by Jeri Category: Musings

Time for a repeat of last year’s 12 Days of Christmas Education on Pharmacogenomics and Nutrigenomics. If you aren’t quite sure what these are, stay tuned to learn more over the next 12 days!

12 Days of Pharmacogenomics and Nutrigenomics Education
Day 1 of 12 Education:
 
There are more than half a million heart attacks in the United States each year.

Following a heart attack, especially one with stent placement, there is about an 80% chance you will be prescribed clopidogrel. Clopidogrel is also known as Plavix.

An enzyme called CYP2C19 is the main one responsible for activating clopidogrel. If you do not make adequate amounts of this enzyme, you do not properly activate clopidogrel, leaving you at risk for another heart attack or potentially a stroke.

The risk for being a poor metabolizer of CYP2C19 is highest among Central/South Asian, East Asian and Oceanian populations. However, anyone can be a poor metabolizer for CYP2C19. The only way to find out is through a pharmacogenomic (PGx) test. This can be accomplished through a simple cheek swab, no blood draw needed!

Wouldn’t you prefer to have this information before you need it?

Chemotherapy can be deadly due to your DNA

Published on by Jeri Category: Musings
Cheek swab
DNA test via cheek swab
Most pharmacogenomic tests include the DPYD gene. This gene affects the ability to process certain chemotherapies that are commonly used in treating colorectal cancer, metastatic breast cancer and others.

It is estimated that about 1300 people die each year in the US because they are given 5-fluorouracil or capecitabine without being properly tested first. In the state of Missouri, this equates to ~24 unnecessary deaths each year.

If you or a loved one ever need one of these drugs, demand a pharmacogenomics test first. Better yet, get a pharmacogenomics test proactively as it can tell you about a lot of common medications proactively.

Read a short article about genetics and chemotherapy: Two patients faced chemo. The one who survived got a test to see if it was safe.

Book a 15-minute discovery call to see if pharmacogenomic testing could benefit you: https://calendly.com/genepharmer/informational-call-for-patients 

Patient Testimonials

Published on by Jeri Category: Musings
Looking back on 2023, I am thankful for the patients who trusted me to assist them with their medication issues and allowed me to do what I am passionate about…pharmacogenomics!
I look forward to helping more of you in 2024!!

Parent S of child, “I just can’t thank you enough for helping us out! I would recommend you to anyone that is struggling through a mental health journey! Thank you again Jeri!”

Patient J, female, 40-49, “I was interested in learning about how my body was processing Tamoxifen, which my oncologist prescribed after I was diagnosed with stage 1 breast cancer two years ago. Thanks to Jeri, I learned that my body doesn’t metabolize Tamoxifen efficiently and is likely not providing the full protective benefits for which it was prescribed. My oncologist used this information to start me on a different class of medication that will be more effective in preventing breast cancer recurrence.”

Patient A, female, 30-39, “Jeri was very knowledgeable and professional. She took the time to explain my results in great detail and helped me understand how my particular genetic profile would cause me to respond to different medications. She answered all my questions very thoroughly, and I came away with a better understanding of how to optimize and personalize my drug therapy regimens now and in the future.”

Patient R, female, 50-59, “I have had the privilege of working with Jeri in multiple professional capacities over the past 20 years, and I cannot recommend her highly enough. She was my genetic counselor with a high-risk pregnancy, and her clear guidance and even demeanor helped us understand all the scientific options and the risks associated with various testing methods. Thankfully we had a wonderful outcome, so of course I felt completely comfortable asking for Jeri’s advice and guidance again, when it came to genetic testing for myself. She helped me identify which medications would work best for my genetic makeup, and that saved a lot of time and trial and error. I now know what works best for me, and what to avoid. She also helped me learn about some risk factors, so I know to be diligent about having certain routine diagnostic tests done for early detection. Jeri had a very comforting way of explaining some less-than-ideal results, and her unquenchable scientific curiosity pushed her to dig deeper into the results to try to help me have as many answers as possible. I’d rather take the pragmatic approach and know what I’m dealing with so I can make good choices for my future. If you feel the same way, you are in good hands with Jeri.”

Schedule a free 15-minute call to learn more about how I can help you.

Iodine, Thyroid and Ovaries

Published on by Jeri Category: Musings

Iodine. Thyroid. Ovaries.

Does one of these seem like it doesn’t belong?

Iodine, thyroid, ovaries and PCOS

The three can actually be interconnected. You may know that iodine is important to thyroid function, but did you know that the ovaries also need iodine? In fact, ovaries contain the second largest concentration of iodine in the body after the thyroid!

An iodine deficiency can not only cause problems with thyroid function but can also affect fertility and contribute to ovarian cyst formation.

Polycystic ovarian syndrome (PCOS) is a common endocrine disorder. Hashimoto’s thyroiditis is a common autoimmune disorder. PCOS and Hashimoto’s occur together more frequently than they should by chance. Genetics, inflammation, and potentially iodine deficiency are the underlying reason these conditions are frequently found together.

If you have PCOS, Hashimoto’s, or hypothyroidism, you should have your iodine level checked. We don’t usually think of the US as a country where citizens are at risk for iodine deficiency, however, it occurs more than we realize. This can lead to people suffering needlessly for years because iodine isn’t being checked.

Couldn’t I just supplement with iodine to ensure I have enough? Yes, you could, but excess iodine is also problematic to the thyroid. Therefore, it is much safer to check your levels before supplementing with iodine.

I am now offering nutrigenomics testing.  Nutrigenomics (NGx) is a science that looks at how your genetics influences your response to diet, exercise, supplements, hormones, inflammation, and more. This information can then be utilized to improve your health.

 

Over the counter medications and genetics

Published on by Jeri Category: Musings
Pharmacogenetic testing only benefits those who take prescription medications, right?

Wrong!

Pharmacogenetic testing can help inform the safe use of over-the-counter medications like NSAIDs (ibuprofen and naproxen) and proton pump inhibitors (lansoprazole, omeprazole, esomeprazole). PGx testing can also tell you about risks with a common cold remedy: dextromethorphan. Also known as “DM” and “DXM”, dextromethorphan is in Delsym, Mucinex DM, Robitussin DM and a lot of other combination cough, cold and flu products.

Dextromethorphan
If you are a poor metabolizer for CYP2D6, you are at an increased risk for side effects from this drug, such as feeling like your head is floating up high on balloon. If you are a normal metabolizer but take medications that either affect serotonin or inhibit the CYP2D6 enzyme, such as sertraline, fluoxetine or paroxetine, duloxetine and bupropion, then taking dextromethorphan increases the risk for you to develop serotonin syndrome. Serotonin syndrome occurs from having too much serotonin and can cause you to have altered mental status, tremors, sweating and GI upset among other symptoms. Serotonin syndrome can be serious and fatal.

Always be cautious with OTC medications and consider having a pharmacogenetic test. OTC ≠ safe!!

Genetics and Gout

Published on by Jeri Category: Musings

Do you need another reason to cut back on high fructose corn syrup or optimize your gut health? View my 2-minute YouTube video on gout. Genetics and diet both play a role.  Change the factor you have control over.Gout

Pharmacogenetic Testing Saves Lives

Published on by Jeri Category: Musings
“I’ve had more damage happen from the medications than from my actual conditions” – patient and advocate, Christine Von Raesfeld.

Not sure about pharmacogenomics? Take a listen to some compelling patient stories.

I love listening to and learning from podcasts, especially while driving. The PGx for Pharmacists Podcast is a great way to learn more about PGx. While it is geared towards pharmacists, anyone can listen.

The episode I am sharing here includes patients and family members of patients. Several of them have family members who unfortunately met a similar fate after being given a chemotherapy drug (fluorouracil, capecitabine) that they could not metabolize due to a deficiency of an enzyme called DPD. Many European countries require testing for this deficiency before the chemo can be administered. Unfortunately, it is not yet standard practice in the US and yet fluorouracil and capecitabine are commonly used to treat colon, breast and other cancers. The side effects can be harsh and can lead to death, particularly in someone deficient in the DPD enzyme. Knowing about the DPD deficiency in advance allows for either a lower dose to be given or an alternative chemotherapy.  A simple genetic test can analyze the DPYD gene that is responsible for instructing the body on how to make the DPD enzyme.

PGx for Pharmacists Podcast

Introductory Videos

Published on by Jeri Category: Musings

I have created three short introductory videos to introduce myself and explain a little more about my business, pharmacogenomics and genetic testing, as well as enzymes and receptors.

You can find the videos on YouTube.