Showcasing the real-life impact of pharmacogenetic testing on the live – Inagene Diagnostics Inc.

Showcasing the real-life impact of pharmacogenetic testing on the lives of those living with pain and mental health conditions

Meet "Richard"

 

“Richard” is one of the six million Canadians with a story to tell about living with chronic pain and the impact on his mental health.  A workplace accident 14 years ago led to a long and difficult journey that has completely  altered his life since.  But thanks to his participation in a recent pilot study involving pharmacogenetic testing, his journey has taken a promising turn.

Richard is a husband and father who has lived with chronic pain for over 14 years, resulting from a workplace accident where he fell over 40 feet on a construction site in 2007. Severe injuries to his left and right shoulders required several surgeries to repair. He is also tormented by painful diabetic neuropathy of his hands and feet. Daily pain has severely impaired his ability to sleep, concentrate, or work, forcing him to go on long term disability, and to retreat from activities and social events he used to enjoy.  As often the case for those living with unrelenting pain, he also developed clinical depression and anxiety.

Did you know?

At least one in two Canadians will be diagnosed with a pain condition, a mental health condition, or both in their lifetime.  Pain and mental health are closely (genetically) linked, and a diagnosis of one increases the risk of developing the other by up to three-fold. When mental health-related symptoms flare up or are sub-optimally managed, pain typically becomes worse, and the reverse is also true.

Richards doctors have prescribed a myriad of medications for his pain and mental health issues over the years that either seemed to provide little to no effect, and/or resulted in side effects ranging from feeling even worse physically, to terrible nightmares and even suicidal ideation.  His persistent symptoms, coupled with the side effects, have had a profound impact on Richard’s quality of life, in addition to his ability to work.

Did you know?  

The traditional “trial and error” method to find effective treatment of pain and mental health conditions results in treatment failure for up to two-thirds of patients, leaving most cycling through multiple drugs and doses seeking relief. Studies have shown that chances of recovery decrease while chances of side effects increase with each new drug trial. Ongoing symptoms over several weeks can lead to these conditions becoming entrenched (“chronic”), and a progressive “downward spiral” of worsening pain, depression, anxiety, and sleeplessness that is ever-more difficult to recover from.  Chronic pain is associated with the worst quality of life of any chronic disease, and chronic pain and mental health issues are the top two drivers of disability and health-care system costs in Canada.

After cycling through multiple drugs and doses for over 14 years, Richard was still struggling with persistent symptoms when his doctor suggested that he participate in a new pilot study investigating whether a new innovative DNA test (Inagene Personalized Insights™ pharmacogenetic test) could help those with chronic pain find more effective treatment sooner.  His physician explained that the study involved taking a one-time cheek swab test, and that a few days later the test results would reveal which drugs and doses would work best with the lowest likelihood of side effects, based on Richard’s genetic profile. Richard decided to participate and take the test in the hopes that it might help him find treatment success, or that it might give him some explanation for why nothing seemed to work well for him without side effects.

The Pilot Study:

In 2020-21, Inagene launched a ground-breaking “proof of concept” pilot study supported by Calian Group. 50 Canadian patients who were being treated for chronic pain and concurrent mental health conditions were recruited from a busy Primacy* clinic for the pilot study in late 2020 to evaluate the “real life” impact PGx testing could have on treatment, and on the time and cost burden involved in trialing different medications for people with chronic pain and/or mental health conditions. 

The results of the test explained a lot. The test report revealed that at least twelve of the drugs Richard had previously trialled and later discontinued were incompatible with his genetic profile. Looking back, Richard recalled that all of these drugs had either provided little effect and/or were intolerable, resulting in them eventually being discontinued weeks or months later. He and his doctor agreed that, had the test results been available years ago (before starting treatment), many of these medications would likely have been avoided altogether, potentially saving thousands of dollars in wasted drug costs, and (more importantly) many years cycling through drugs that were genetically destined to fail.

At the time of testing, Richard was still taking one medication that the test flagged as a ”Use With Caution” drug for him, based on an increased likelihood of side effects. Not surprisingly, Richard’s doctor had been unable to increase this drug to a dose that provided relief without it becoming intolerable. They decided to replace the drug with another that was more compatible with Richard’s DNA. One month into taking the new medication at the low starting dose recommended by the Inagene report, Richard returned to his doctor to report that his neuropathic pain was almost completely resolved, and that he felt a significant reduction in his shoulder pain. He wasn’t experiencing any side effects with his new treatment, and based on his improved symptoms, his doctor was even able to decrease his overall dose of opioids.

Richard was extremely grateful for having decided to participate in the study and take the test: “I cannot put into words how valuable this is to me. To wake up in the morning and my hands and feet aren’t on fire or screaming at me, to look forward to working again, to be able to do stuff with my kids....I would pay all the money I have for this chance at life again.”

 Richard’s experience with the pilot study was not atypical:
  • 96% of pilot study participants had tried and failed an average of 6.1 drugs that were genetically destined to fail and could have been avoided had the test results been available sooner.
  • The PGx test results led to treatment change for over three-quarters of study participants, indicating that even with years of trial and error, the majority had still not found optimal treatment.
  • It was determined that having the test results sooner could have saved patients (on average) 60 weeks of “trial and error” and over $3,000 in wasted drug costs. 

 

Read more about the pilot study here.