Pharmacogenomic testing launched in Scotland

A genetic test is being investigated to determine whether it can be used to personalise and improve the treatment of a wide variety of NHS patients.

The Pre-Emptive Pharmacogenomics (PHOENIX) study, which began earlier this year, aims to enrol up to 4000 patients over the next two years at the Queen Elizabeth University Hospital (QEUH) in Glasgow. The study uses pharmacogenomics – the study of how genes influence an individual's response to drugs – to understand how a patient's DNA affects their response to 60 commonly prescribed medications.

'The primary goal of this trial is to evaluate the clinical and health-economic impact of pharmacogenomics-guided prescribing,' said study lead, Professor Sandosh Padmanabhan, Pontecorvo chair of pharmacogenomics at the University of Glasgow. 'Specifically, we want to determine if a pharmacogenomics-guided approach to prescribing can significantly reduce the incidence and severity of drug-related side effects and/or treatment failures. This evaluation will compare the outcomes of participants who receive pharmacogenomics-guided medication management to those receiving standard care'.

It is estimated that around 15 percent of patients carry genetic variations that either reduce the effectiveness or increase the risk of side effects of drugs. Without genetic testing, these variations can often go unnoticed or prolong the time it takes to optimise treatment for a patient.

Patients on the trial will have cells collected from the inside of their cheek via a swab, either immediately or at three months – allowing the researchers to establish evidence of benefit. Scientists extract DNA from the cells in the lab to analyse how an individual may respond to certain medications. Results of the test are provided to the treating clinician within days, allowing them to make an informed decision on the type and dosage of medication prescribed.

Pharmacogenomic testing has not been used routinely in the UK. If successful, the PHOENIX study could pave the way for more personalised prescribing across Scotland and the NHS.

Dr Katriona Brooksbank, honorary clinical associate professor at the University of Glasgow, said: '…this trial, which could have a major impact on the treatments patients are prescribed based on their own genetics. It will put precision medicine into action as researchers look to determine how a person's own genetic make-up can affect the drugs they are given as treatments. This could allow clinicians to reduce adverse reactions and side effects, ensuring the best possible outcomes for patients.'

The trial is open to all adult patients who are newly prescribed one or more of 60 widely used medications for a range of health conditions treated in clinics at the QEUH, including cardiology, ENT, general medicine, geriatrics, gynaecology, neurology, orthopaedics, psychiatry, rheumatology, respiratory, stroke and surgery.