Pharmacogenetics: A No-Brainer

As I head home after our first big conference since before the COVID-19 pandemic started, the Florida International Medical Expo in Miami, there are three take-aways that I keep thinking about. First, damn, it’s hot and humid in southern Florida in the summer – my glasses would fog up as soon as I stepped out of the hotel! Second, it was so great to be interacting with real people in real life… I didn’t realize how much I’ve missed that. And third, although I’m obviously biased and agree completely, the most common response I get when I explain to the general public what pharmacogenetic testing is, is that it really is a no-brainer.

At this conference, I spoke to dozens of healthcare professionals, introducing them to the different genetic testing services we offer at DNALabs. When I speak with physicians that are familiar with pharmacogenetics, they get it… this is the future of medicine and will be standard-of-care. However, at this conference, we spoke to a lot of people from all over the world that work in very different fields, such as medical device manufacturing, distribution, regulatory affairs, consulting, logistics, etc. When they were introduced to the concept of pharmacogenetics, using information in our DNA to better understand and predict how medications will or won’t work, there was one common reaction: wow… this is a no-brainer!

So many people we spoke with had stories of how themselves or their loved ones had experienced the one-size-fits-all and lengthy trial-and-error odyssey that many people go through when they’re first prescribed a medication. The concept is simple… if you metabolize a medication too quickly, it flows through your system so fast that it doesn’t have the chance to accumulate to therapeutic levels, so it just doesn’t work. If you metabolize a drug too slowly, it can build up in your system to toxic levels (especially if you take additional doses over time), and can cause unwanted side effects. The genes that encode the liver enzymes that metabolize medications are so well characterized that there are now peer-reviewed, practice guidelines that provide drug/dosing recommendations for prescribers so that they can give their patients the right drug at the right dose based on what genetic variants they have. Simple right? So why isn’t this standard of care?

Most people were convinced even before we showed them the study that we published with the Hospital for Sick Children in Toronto that showed that 80% of children would require nonstandard dosing recommendations for a broad range of drugs based on their genetic test results. We didn’t even have to show them this infographic that shows that pharmacogenetic testing can actually help save companies and the healthcare system almost $4000 per patient.

My key take-home here is that I’m starting to think that this technology will be standard-of-care sooner than later. Healthcare providers and the general public are finally seeing pharmacogenetics as I have been preaching for years… a no-brainer.

Aaron Goldman, PhD
Chief Science Officer