Unwanted side effects from prescription drugs cost the NHS £530 million annually in hospital admissions, and the human cost, while not tangible, is equally felt.

One reason is the individualistic nature of human beings; the differences that run to our very core. Research shows that 99% of people carry at least one genetic variation that can affect their response to certain drugs including commonly prescribed painkillers, heart disease treatments, and antidepressants.

Genetic testing is already being used in some areas of medicine, most notably in cancer and HIV treatment, and in both adult and pediatric populations, with doctors typically analysing one to two genes at a time.

The benefits of precision medicine

If doctors were able to understand a person’s full genetic make-up, they may be able to better predict how their patient might respond to a drug before it is prescribed, helping to predict treatment response. This in turn means medication can be adapted and may be more likely to avoid potentially unwanted side-effects or ineffective treatment. The impact that timely information and knowing sooner can have on the course of a disease is huge – what the optimum treatment choice might be, what the best dose should be, even what allergies might come into play throughout the treatment journey.

Even aspirin, a well-known and common drug, can have varying effects based on a person’s genes, meaning that the often-intended use of reducing risk of heart attack or stroke becomes obsolete. While doctors can use a sample of blood, saliva, or skin to analyse just one, or a few, genes, the latest approach in precision medicine is to get a patient’s entire genome sequenced. As the human genome remains relatively consistent over time, this could form part of people’s general medical records in the future.

The knock-on effect across the medical industry

Some sections of the pharmaceutical industry have been moving towards precision medicine because of the benefits it offers to bring to therapeutic landscapes. Whereas personalised medicine takes into account the whole-patient, holistic approach of discussing the full care journey with the patient and their carers or families, considering the patient’s lifestyle and life stage, preferences, and many other things, precision medicine is slightly more specific, also encompassing a multidisciplinary, data-driven approach to encourage better clinical decision-making through a clearer understanding of the molecular basis of a patient’s disease. While the two terms still can be used interchangeably in some settings, pharmacogenomics (the combined study of pharmacology – drugs – and genomics – genes) is a part of precision medicine, and allows us to study how genes affect responses to drugs with the aim of developing effective treatments and doses that are tailored to individual variations and genetic, environmental, and lifestyle factors.

Pharmacogenomics has the potential to have a huge impact across the medical industry, saving resources by reducing the amount of time and effort it can take to come to a diagnosis or treatment decision. It can also avoid wasting precious time and resources on unnecessary diagnostic processes, appointments, and treatment that may not be needed.

The full cost benefit is not yet clear, and this forms one barrier to uptake of pharmacogenomics. While the upfront cost of this genetic knowledge is expensive, the long-term benefits are considerable but often less tangible. For example, precision treatment could improve an individual’s quality of life, save a patient’s and HCP’s valuable time, reduce waste associated with unsuitable treatment, and decrease people’s anxiety levels about treatment choices. These benefits can, however, be hard to measure, and more discourse around this topic is needed.

A hot topic or a beneficial investigative measure?

Precision medicine has been gaining more and more traction in recent years, but we must ensure pharmacogenomics is recognised as more than a buzzword; we need better understanding so the benefits aren’t diluted through skepticism and potential fear of the unknown. Genetics, and all that the field encompasses, is often clouded by complexity, uncertainty, and rapid clinical advancements. So, whilst its potential is significant, its use is currently hindered by a lack economic and clinical knowledge and understanding, pointing to a need for education so patients and clinicians know what questions to ask and when, to start building more widespread awareness.

The results that this could bring to both healthcare practices and pharmaceutical companies are considerable, but it will also require a change in mindset away from the ‘one-size-fits-all’ way of prescribing we have understandably become used to. Clinicians will be able to ensure patients are given the best possible quality of life and the simplest route to diagnosis. For pharmaceutical companies, it offers a huge opportunity to place the patient back at the heart of what they do.

While there is still quite a distance to go, pharmacogenomics is an area full of promise, offering hope for more effective disease management, smoother treatment journeys, and improved patient outcomes.

By Emily Sidlow, Page & Page and Partners