Thomas Lumley, a Professor of Biostatistics at The University of Auckland, New Zealand, spoke at a recent Precision Driven Health event on the role that genetic sequencing can play in healthcare.

There are many ethical and privacy concerns surrounding genetics, according to Professor Lumley. He says laboratories, insurance companies and even employers have all approached genomics somewhat dubiously, so it is important to keep the patient’s wellbeing at the forefront of precision health research. 

When it comes to using genetics for precision health, one of the largest opportunities is the potential to avoid adverse drug reactions. While patients having negative reactions to their medication is relatively rare, it’s still serious and worth worrying about. Genetic testing could identify these patients and direct them to other, more effective treatments. An example that Professor Lumley discussed was in use of Abacavir. It’s an HIV drug that can cause a nasty skin rash in 5-10% of people who take it. It’s possible to identify those who will react through genetic testing. Not only would this testing benefit patients by avoiding unpleasant adverse reactions, testing actually saves money by avoiding readmission and wasted medication.

The main problem with using genetic testing for precision health is its accessibility. While it’s true that DNA sequencing is getting cheaper, its cost is still in the hundreds of dollars for a comprehensive report. There are also relatively few places around the world that can perform genetic testing, and it often doesn’t have a quick turnaround time. Professor Lumley stated that genotyping has to be free, fast, and available at the point of care before it becomes useful in clinical applications.

So can it work? Professor Lumley says genetic variants in metabolism are “low-hanging fruit”. That means that it should be easy to use genetic testing to determine if your body can process certain medications, and if so, how fast those medications are processed. This information could be used to determine the types of medication to be administered, and their appropriate dosage. This is already technically possible but, as mentioned above, test accessibility is the main problem.

Over the next few years, genetic testing will become more available and more affordable. Combine this with the ongoing research around precision health, and we should begin to see clinical applications emerge, Professor Lumley concluded.

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