As this column comes to an end, it’s time that we empowered patients by teaching them about pharmacogenomics.
Gene Dosage is a monthly column by Janan Arslan that finds out what genome science is uncovering about each individual's unique response to drugs and pharmaceuticals. Janan is a graduate student and pharmacogenomics researcher with a keen interest in personalised medicine.
Throughout my career, interactions with patients have been very valuable to me. I recall every patient I have ever spoken to; something about their situation always leaves an imprint. Many patients will talk to me for long periods of time, and I’ll happily listen. You can tell they just want to vent.
I have already discussed my serendipitous encounter with an elderly man who experienced terrible side effects from his antidepressants. Another patient described to me how she was continuously dismissed when she discussed her reactions to various medications; she was made out to be a hypochondriac. No one seemed to understand her predicament – that she was responding to drugs differently because of her genetic makeup.
Her situation reminded me of an episode of The Golden Girls (yes, I am not ashamed to admit that I love that show) in which Dorothy, one of the main characters, was diagnosed with chronic fatigue syndrome. Confirming this diagnosis, however, was not an easy task as the disease was not readily understood. So Dorothy found herself going from one doctor to another, only to be dismissed at every turn. Just like Dorothy, this patient finally realised that there was an explanation to what had been happening to her. She was relieved; she finally had an answer.
My conversations with patients are a reminder that we need to share the knowledge we have ‒ not just with our scientific peers, but with the community that we hope to serve. It sounds sentimental, I know, but that’s what my work is for me. Everything I have done up until this point, and everything after, will always be to improve the lives of others as much as I possibly can.
It was my patients who led me here. About a year ago, while studying a science communication subject at the University of Melbourne, the opportunity arose to write a pharmacogenomics column for Lateral. My strongest motivator for writing this column was the need to genuinely communicate my field of science to everyone ‒ in particular, patients who may have suffered due to current prescribing methods.
Despite the growing use of personalised medicine, the general public seems to be largely unaware of it. I want everyone to know the options that are available to them ‒ perhaps have an “Aha!” moment if they relate to something I have written, or share this information with someone they care about. Or maybe feel a bit more empowered with the information available to them.
According to the European Alliance for Personalised Medicine, knowledge of personalised medicine among the general public is generally quite low. The US Public Opinion Survey About Personalised Medicine, commissioned by the Personalized Medicine Coalition (PMC), found that 62% of surveyed individuals had not heard of personalised medicine. Only 1 in 10 participants said their doctor talked to them about, or recommended, personalised medicine. This is unsurprising, as in a previous column I discussed how doctors were open to incorporating pharmacogenomics testing in their practices, but were not adequately informed or educated about the test, its availability, and applicability.
Even among individuals with a passing familiarity with the term “personalised medicine”, there appears to be a lack of understanding regarding the test as a whole – some aren’t even aware it is a genetic-based test. As part of the PMC study, the test was explained in detail to the participants; two-thirds of participants demonstrated excitement in response, and were eager to learn more about this test that could predetermine their response to treatments.
One option for patients (and a good starting point) that I have not discussed so far is the P450 Drug Interaction Table. This is a relatively easy to read, but comprehensive, guide to help physicians and their patients understand which medications are metabolised by which genes. For the most part, pharmacogenomics testing companies will typically cover CYP2D6, CYP2C19, CYP2C9 and VKORC1 (which is used in warfarin metabolism). The other genetic tests may vary from company to company.
As this column hits its one-year mark, I am sad to say that it is time for me to move on from Gene Dosage. I’ve had a blast writing this column; not only has it allowed me to improve as a writer, it has also given me the opportunity to share my experiences in the field of personalised medicine.
Pharmacogenomics is a rapidly evolving field of medicine. There is no doubt in my mind that, as time goes by, even the things I have written in my columns will be made redundant. There will be improved methods that lead to better outcomes, better quality of life, and happier patients. The process of discovery never ends. Just when we think we may have covered everything, new challenges present themselves for conquest. That, dear Lateral readers, is the beauty of science.
Edited by Andrew Katsis and Ellie Michaelides