Real Patient Stories: The Transformative Power of Pharmacogenetics
Real Patient Stories: The Transformative Power of Pharmacogenetics
In this post, we explore how PGx testing is impacting patient care in real-life situations. All of these patients has had a Rxight PGX test and a review of their findings with a medical professional.
Patient #1: A Primary Care Physician’s Own Experience
A primary care physician customer recently sought a PGX test to help guide her own current medication therapies and medications she may be prescribed in the future. During consultation, it was discovered the patient had been taking Omeprazole for GERD for 30 years, this physician discovered through PGX testing that she is an intermediate metabolizer for the drug, which has led unwittingly led to toxic buildup in her system. She believes this contributed to her recent diagnoses of kidney disease this past Winter. She suspects she could have avoided this damage to her kidneys with a more personalized, decreased dose. She is speaking with her prescribing physician and hoping an adjustment of dosage or change of medication will help reverse her kidney disease in the future. More to come…
Patient #2: A Heart Attack Survivor Gaining Peace of Mind and Effective Control of His Condition
After suffering his first heart attack in 2020, this patient struggled with anxiety about his new medication regimen, after hearing about all of the potential side effects of each. PGx testing confirmed him to be be a normal responder and normal metabolizer of each of the six newly prescribed medications. Upon this revelation, his crippling anxiety related to his new medication therapies subsided, allowing his adherence to medication to improve. Five years later, taking his medications as prescribed, he’s still free from adverse cardiac events and thriving. PGX testing often looks for medication issues, but sometimes “normal” PGX findings can have an exceptional effect on patient medication therapy adherence and outcomes.
Patient #3: A Struggle with Chronic Pain and Addiction by an Intermediate Metabolizer and Poor Responder to Opioids
This patient, in his late 50’s who endured a second cardiac event turned to pharmacogenetics to help select and adjust his new cardiologic medication therapies. This patient had also been battling chronic back pain for decades—pain that resulted from a sports injury in his 30’s and a failed back surgery in his 40’s.
After the painful failed spine surgery revision, his provider turned to opioids for chronic pain management. This pain control started with low-dose opioids but later escalated to high doses of oxycodone so he could try to lead a normal and productive life. However, despite very high doses, the patient’s pain control was not sufficient and he was still seeking more, so he began self-medicating with alcohol and recreational drugs, leading to stints in substance use disorder programs, job loss, and contributing to a tragic divorce and alienation from his children.
For years, he struggled, claiming he was unable to get sufficient pain relief from his medication. His physician kept questioning his integrity and increasing the dose, but it never seemed enough.
PGx testing revealed the root of the problem:
Poor OPRM1 function (mu receptors)—meaning his body couldn’t properly sense the opioids. He was taking his pills and still in pain because the drugs could not do their job, due to his genetically-determined condition of the targets of the opioids.
Intermediate CYP2D6 function—meaning he couldn’t convert oxycodone into its active form that is supposed to provide the pain relief because of his genetically-determined metabolism.
For years, he had been circulating high levels of the inactive form of the drug and not getting relief the low levels of active drug that were in his system, which not only wasted money but also contributed to his physical dependence and unrelieved pain. …He and his family suffered needlessly for years.
Armed with this genetic information, his physician transitioned him to buprenorphine—a medication he was a normal metabolizer for. This treatment helped both his pain and dependency, leading to better control of both his mental health and physical condition. This information has not only helped him understand the mystery around why he was in so much pain, but also what contributed to his addictive behavior. It has had what is possibly an even more profound impact on helping his children, his sister and ex-spouse understand what he was going through during those dark times and help the healing process. The patient is now on low dose buprenorphine for both pain and withdrawal symptoms and doing well in his recovery.
💭 Takeaway: Pharmacogenetics isn’t just about optimizing medication—it’s about understanding your unique genetic makeup to prevent unnecessary suffering, whether that’s physical pain or the burden of medication side effects.
👉 If you or someone you care about is struggling with medication issues for their psychiatric conditions, heart issues, chronic pain or addiction, PGx testing could help you avoid years of ineffective treatments and find a path to healing.
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