Finding an Answer in Pharmacogenomics: One Patient’s Journey with PGx Testing

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PGx testing has the ability to make a difference in the lives of patients. Here’s one patient story that demonstrates how PGx testing brought her peace of mind.

A Nonresponder

As a teenager, Amy realized she was different. She had just undergone knee surgery, And her doctor had written her a prescription for Percocet. Strangely, the pills seemed to have no effect.

When she told her doctor, he was perplexed. But he had nothing to offer her other than the reassurance that she would never be at risk for addiction. For Amy, this marked the beginning of a decades-long mystery.

Living with Pain

Amy’s first knee procedure was arthroscopic—a noninvasive surgery. While not exactly a walk in the park, Amy managed to get through the short recovery period without the aid of effective pain relief. 

However, as she got older, Amy’s knee issues resurfaced and she required a total knee replacement.

Knee Replacement Surgery

Unlike her previous procedure, the knee replacement required a major, invasive surgery. After the operation, Amy woke up as soon as the anesthesia wore off and immediately experienced excruciating pain.

Her medical staff was shocked. They had just administered a powerful dose of morphine. She shouldn’t have been awake. Amy tried to explain that she didn’t respond to morphine or similar medications, but even her doctor didn’t seem to believe her. “They just don’t know what to do with you,” lamented Amy.

After her hospital stay, Amy faced a six-week recovery from the operation. Once again, the pain medication that her doctor prescribed had almost no effect on her. She resorted to taking more than the recommended dose in the hopes that she would become drowsy enough to fall asleep.

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Cervical Fusion Surgery

Little more than a year later, Amy was again facing the prospect of major surgery. Suffering from a degenerative spinal disorder, she would now need to undergo a procedure to fuse the cervical discs in her neck or risk losing function. 

But Amy was scared. “The whole knee replacement surgery was a nightmare,” she said. Luckily, she found a doctor at a nearby teaching hospital who not only recommended a less aggressive operation, but also took her pain management concerns seriously.

However, even with a supportive medical staff, the surgery was challenging. Amy again woke up immediately after surgery in unimaginable pain. Despite her doctor's warnings, the hospital staff was dumbfounded that such large doses of strong painkillers had nearly no effect on their small-framed patient. 

During a follow-up visit more than a year after her cervical fusion, her doctor joked that some of the hospital staff still talk about that little lady they couldn’t keep asleep.

Despite the pain, the support of the staff helped Amy survive her postoperative hospital stay. Her doctor even brought in a team of anesthesiologists to evaluate her. “They did the best they could, and I got through it,” as Amy described it. “But no one ever said, ‘I wonder why she’s not responding.’ ”

She left the hospital with prescriptions for diazepam, baclofen, gabapentin, morphine, and hydromorphone. But as she had expected, none of the medications were truly effective at treating her pain.

Finding an Answer in Pharmacogenomic Testing

Amy was still suffering from ongoing back pain as a result of her degenerative disorder. Seeking relief, she went to her local pain management clinic. There, nothing the staff prescribed worked for her, and she was getting sick of their suspicion that she was a drug addict.

By chance, Amy was introduced to Sarah, a pharmacy student, who had just completed a course on pharmacogenomics (PGx), the study of how a person’s genes can affect their response to medications. She was also doing a clinical rotation at Rx Clinic Pharmacy, a local community pharmacy that offered PGx testing. Having seen firsthand that PGx testing was improving the lives of patients, she knew it was something that could benefit Amy.

With help from Sarah, Amy took the PGx test and brought the results to her family doctor of 28 years. The results revealed that the patient was a CYP2D6 ultrarapid metabolizer and carried genotypes for additional genes involved in pain sensitivity and dose requirements. Her overall PGx profile was consistent with an inadequate response to oxycodone as well as higher-than-average dose requirements for morphine and fentanyl. All of these things that people are overdosing on don’t do anything to me. I’m on the opposite spectrum,” Amy explained.

Facing the Future

PGx testing finally helped answer the question that Amy had been wondering about for years. But life rarely offers up movie-script endings. Although Amy now knows why she doesn’t respond to common painkillers, she still hasn’t found a medication that works for her.

However, armed with the knowledge of her PGx test results, Amy stopped taking her ineffective medications. As a result, her liver function test results are within a normal range for the first time in years. For now, she’s holding off on having additional spinal surgeries and getting by with a strict regimen of yoga and acupuncture to help manage her pain.

Closing Thoughts

PGx testing may be just one part of a comprehensive approach to healthcare. But it has the power to improve the lives of patients, even if that just means peace of mind.

Amy hopes that by sharing her story, she can help further the conversation, promote physician education, and encourage patients with similar experiences to seek PGx testing. “I really hope this will open a few people’s eyes,” she said.

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