Do you or a loved one take tamoxifen?

Published on by Jeri Category: Musings
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 Category: Musings
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 Category: Musings
“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

PGx and Children

Published on by Jeri Category: Musings
Did you know that you do not have to be an adult to have pharmacogenetic (PGx) testing? There are health systems across the US, such as St. Jude’s and Boston Children’s Hospital that routinely offer testing in children with complex health issues. “Preemptive” PGx testing can help avoid bad side effects from certain medications and help guide therapy choices.
92% of the children who underwent PGx testing at Boston Children’s had genetic findings that were considered “actionable”. This means that the genetic results could either be used to guide current therapy, or had the potential to guide future therapy. In some cases the children’s results were such that testing should be offered to family members.
Similar to children, and as would be expected, several studies have shown that adults undergoing PGx testing have greater than a 90% chance that the test will yield an actionable result.
Curious how PGx testing might help you? Schedule a free 15 minute conversation with me: