Personalised medicine is underpinned by pharmacogenomics – the study of genetic variation that determines how individuals respond to certain drugs and how those drugs are metabolised in the body. Also known as ‘precision medicine’, personalised medicine gives medical practitioners the power to accurately determine the right drug and dose for the patient, based on their DNA.
How it works
With advancements in the field of pharmacogenomics, the process of genetic testing has become increasingly simple and user-friendly. Genetic tests available in South Africa now include those as simple as a cheek swab done in the comfort of the patient’s own home – countering the perception that genetic testing is invasive, complicated or excessively expensive.
Experts weigh in
Dr Daniel Meyersfeld, molecular biologist and founder of DNAlysis Biotechnology, suggests extensive research conducted over the past few years supports genotype testing as means of determining patient-specific precision medicine.
“Medicine is no longer ‘one dose fits all’. By analysing DNA, it’s possible to understand how different genotypes affect the metabolism of medication in the body,” explains Meyersfeld. “With these scientific insights, medical practitioners can pre-emptively optimise medications for their patient and see better results by avoiding a ‘trial-and-error’ approach to drug prescription.”
Mind the (knowledge) gap
Meyersfeld adds there’s a lack of awareness about genetic testing in South Africa – how it’s conducted, and the science behind it. This has prevented many South Africans from exploring genetic testing to enhance their own healthcare – and that of their loved ones.
“In SA, there’s a misconception that genetic testing is hugely expensive and invasive, which simply isn’t the truth. There’s also a fear of genetic information falling into the wrong hands – being used by insurance companies to determine risk, for example,” says Meyersfeld.
“Tests like mygeneRx, however, are as simple as a cheek swab that can be done anywhere, at any time, and couriered to a lab to be tested. The results are strictly confidential and only shared with the nominated healthcare practitioner.”
“The cost, when weighed up with the lifetime benefits of accurate and safe medical treatment, is almost negligible. Not to mention patients will actually save money in the long run by avoiding medications that don’t work.”
Meds to watch
Areas of particular focus for genetic testing and personalised medicine include cardiovascular disease, psychiatry and pain management, as these clusters are frequently prescribed as chronic medications.
Clopidogrel, as an example, is the standard treatment to stop blood clotting, heart attacks or strokes after coronary stent surgery – but studies show 2-14% of the population don’t metabolise the medication adequately, which can leave them vulnerable. Widely used blood-thinner Warfarin is also known to vary in effectiveness from patient to patient, which makes dosing problematic for medical practitioners.
“Currently, drugs are prescribed to meet the needs of the general population – not the individual. Now, we can analyse our DNA to understand how each of us processes medication in the body, and to flag medications with more extreme side effects for individuals. What’s most exciting is that this world-class test is available to the South African public,” says Meyersfeld.
Meyersfeld urges South Africans to discuss genetic testing with their medical practitioner, and take control of their healthcare.
“We’re in the information age on steroids. There’s nothing we can’t know these days. So why do we know so little about our own DNA? It’s the roadmap for how our bodies work, so it makes sense for individuals – and their trusted medical practitioners – to understand everything about their unique genetics, so they can access more informed, more effective medical treatment,” concludes Meyersfeld.