A very interesting post about the language of #pharmacogenomics by John H McDermott who spoke at our Annual Open Meeting last week! #UKPGx2024 #UKPGx #Pharmacogenetics #StratifiedMedicine
💬 We need to talk about language and pharmacogenomics! For once, I'm not thinking about testing technologies or data standards, but how we generally discuss pharmacogenomics as a healthcare intervention. 📈 The last few years has seen a rapidly increasing interest in pharmacogenomics. In general, this is great, and there are some phenomenal implementation efforts taking place around the world. 🧬 One of the reasons that pharmacogenomics has captured so much attention is because it can be so easy to explain. ✨ “Your genetics can be used to select the best medicines for you” ✨ Simplicity is important and useful, but there is a fine line between simplicity and inaccuracy. 🛑 In striving for a simple message there are 4️⃣ main inaccuracies which tend to reoccur: 1️⃣ Treating risk as binary. Pharmacogenomic variants can increase the risk of an adverse drug reaction or reduced effectiveness. That risk varies depending on the clinical scenario, the specific gene-drug pair, and what your baseline risk was to begin with. Critically, carrying one of these variants does not mean you will absolutely go on to have an adverse reaction or poor response. Too often, pharmacogenomics is presented through a binary and deterministic lens. 2️⃣ Failure to contextualise. Pharmacogenomic results are just one part of a patient’s overall clinical picture. A patient’s medical history, other medicines, and environmental exposures can also impact medicines. Ignoring these factors and using pharmacogenomics in isolation is inappropriate. 3️⃣ Treating all gene-drug pairs equally. Across the pharmacogenomic literature, there are some gene-drug pairs with extremely strong evidence, and others with very little. Messaging which fails to communicate that misrepresents the reality. 4️⃣ The implementation gap. The (relatively) easy bit of pharmacogenomics is the genetic testing and producing a PDF report. The hard bit is ensuring that results are A) available over time ⏱ and B) accessible for reuse 🔄. Testing without a strategy for how clinicians and patients can access and reuse results has limited usefulness. In specific clinical scenarios, when properly contextualised and implemented, pharmacogenomics is clearly a huge health opportunity. However, it is now too often spoken about, without qualification, as a singularly powerful intervention, akin to a “silver bullet”, which will improve all prescribing practice and reduce burden across healthcare systems. 🙅♂️ Such exaggeration isn’t right and shouldn’t be the message communicated to patients or members of the public. 🆕 Over the coming months, we will look to share simple, considered and research-based based information that helps raise the right awareness on the exciting potential for pharmacogenomics to improve patients care.
