Musings

Chemotherapy can be deadly due to your DNA

Published on by Jeri
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
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

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
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

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
“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

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.

Do you or a loved one take tamoxifen?

Published on by Jeri
Do you or a loved one take tamoxifen? If so, read on!

Tamoxifen has been approved for both the treatment of breast cancer and the prevention of breast cancer. I recently spoke with a patient with a family history of breast cancer who was going to meet with an oncologist and consider starting tamoxifen for prevention. I feel that it is important to make sure medications will work for you and so I shared information with this patient about how her genetics could impact her response to tamoxifen.

Tamoxifen itself has a very minor effect in treating or preventing breast cancer. For a patient to receive benefit from tamoxifen, the patient’s body must convert tamoxifen to a more active drug known as endoxifen. This conversion occurs primarily through an enzyme known as CYP2D6.

There are some individuals who make little to no CYP2D6 enzyme. Therefore, when treated with tamoxifen, these individuals convert less of the tamoxifen to the beneficial endoxifen. This naturally impacts one’s risk for breast cancer occurrence, recurrence, and treatment.

If you haven’t had genetic testing, how do you know your CYP2D6 status? You don’t. But you can look to your ancestry to see how concerned you should be. Individuals with the lowest risk of tamoxifen failure are those of Hawaiian/Oceanian descent with ~12% being considered intermediate or poor metabolizers. In Native Americans the chance is ~32%, Latinos ~36%, African Americans ~40%, and in both East Asians and European Caucasians ~45%. If these numbers make you want to know what type of CYP2D6 metabolizer you are, set up a free 15 minute consultation with me https://calendly.com/gene…/informational-call-for-patients

Whether you pursue genetic testing or not, if you take tamoxifen, you should also be aware that certain medications can also decrease CYP2D6 and therefore make tamoxifen less effective. The list includes common medications such as paroxetine, bupropion, and fluoxetine. If you want to maximize tamoxifen benefit, then avoid medications that inhibit the CYP2D6 enzyme.

Genetic knowledge can prevent medication side effects

Published on by Jeri
ibuprofen femur fracture

What if I told you that pharmacogenetic (PGx) testing could have potentially prevented ibuprofen from causing a spontaneous femur fracture?

Years ago a patient began taking 400mg of ibuprofen at night. Eventually the patient developed low hemoglobin due to ulcerations in the stomach. The patient was placed on omeprazole to help the ulcers heal. The patient remained on omeprazole and 8-10 years later experienced a spontaneous femur fracture.

You may be wondering how genetics plays a role in this story. The patient recently had PGx testing and was found to be a slower than normal metabolizer of ibuprofen. This means that the patient is exposed to more of the medication and at risk for more side effects, such as ulcerations and bleeds. In addition, the patient is a slower metabolizer of omeprazole, again meaning more exposure to the medication and a greater risk for side effects, such as infections and spontaneous fractures.

If PGx testing had been available years ago, the patient could have been counseled to avoid NSAIDs, or to take them at the lowest effective dose for the shortest period of time needed. This might have helped avoid the ulceration and addition of omeprazole. Due to genetics, the patient would also have been counseled to either stop omeprazole once the ulcers were healed, use rabeprazole instead, or cut the omeprazole dose in half once the ulcers were healed to help avoid additional issues, such as the decreased absorption of nutrients like calcium which may have contributed to the spontaneous fracture.

Moral of the story: PGx testing doesn’t need to be reactive. You can have testing when you are on no medications or only a few medications. This genetic knowledge can be used to inform future medication use with the intent to minimize unwanted side effects, medical bills and long-term health issues.

Curious if I can help you with your medications? Schedule a free 15 minute consultation https://calendly.com/gene…/informational-call-for-patients

Waiting for cocoa…

Published on by Jeri
“She waited 400 years for a hot chocolate!” A hospital employee uttered this with a very incredulous tone when I stepped forward to pick up my hot chocolate from the Lakota counter. I just smiled under my mask.

hot_cocoa

My first thought, what the heck is wrong with hot chocolate? I love it! Anytime I am at University Hospital and it isn’t ridiculously hot out, I treat myself to some from Lakota.
This employee’s simple utterance got me thinking about so much more.
I am a simple person. If you know me, you know I don’t wear makeup, barely wear jewelry, don’t do my nails, use the old fashion radio controls on my car radio instead of the buttons on my steering wheel, and eat my salads without dressing. I don’t drink mocha latte French vanilla low foam pumpkin spice with oatmeal. Yes, I made that drink up and I am sure to coffee/latte connoisseurs it is laughable, but I swear the drink names the baristas were shouting out were at least that long.
I realized there is great contrast to how I am personally versus professionally. No doubt most patients (and even providers) view PGx, genetics, and personalized medicine as something pretty complex, fancy and perhaps intimidating. While I am a simple person at heart, when it comes to taking care of patients, I use the “fancy” stuff to make the patient’s life simpler with less medication that is ideally more effective.
Set up a free 15 minute call with me to discuss how the power of genetics can simplify your life! https://calendly.com/genepharmer/informational-call-for-patients