Milan, Italy: Pharmacogenomics studies how individuals respond to drugs based on their genetic code. Using that knowledge to guide prescribing in routine care could lead to better outcomes for patients and save money for health systems.
Generating pharmacogenomic data in the laboratory is relatively straightforward, but a major challenge is making that information available to frontline healthcare professionals in a clinically relevant format and timeframe. This has meant that, to date, only a limited numbers of patients have been able to benefit from such individually optimised treatments.
Dr John McDermott, NIHR Academic Clinical Lecturer at the University of Manchester, Manchester, UK, will describe to the annual congress of the European Society of Human Genetics today (Tuesday) how he and colleagues, as part of the NHS-England Network of Excellence for Pharmacogenomics & Medicines Optimisation, have pioneered an approach to integrate genomic data into electronic health records in both GP practices and hospitals. This means that patients' genomic data can be made available to help select the safest and most effective treatment for everyone, irrespective of where they are in the health system.
Pharmacogenomics is fundamentally different from rare disease and cancer genetics in that it has relevance across a patient's life, each time they require a medicine. But the professionals handling the data are unlikely to have had extensive training in interpreting this complex genetic information. The team based in Manchester, supported by the NHS England Genomics Unit, have developed a novel informatic approach that enables genomic data to be presented to clinicians, directly in their electronic health record, without disrupting normal clinical practice.
"Our solution can work with many commonly used genetic testing platforms and all the major electronic healthcare record systems used globally. This means that healthcare professionals need not worry about interpreting genetic reports, instead they receive contextualised guidance within their existing systems as part of the normal workflow," says Dr McDermott.
The PROGRESS programme has recruited patients from 20 sites across England following prescription of common medicines - statins, opioids, antidepressants, and proton pump inhibitors - and pharmacogenomic guidance was returned, integrated into the electronic healthcare record. The proportion of patients with an actionable variant related to their medicine was recorded, along with prescription amendments, turnaround times and compliance with guidance.
An interim analysis of the first 500 participants showed that pharmacogenomic guidance had been provided to all patients, with a median turnround time of seven days. A pharmacogenomic result related to the prescription of common medications was found in 95% of participants, and just over one in four study participants had their prescription adjusted to a safer or more effective treatment.
Large-scale interventions like this need to be justified from a health economic perspective, Dr McDermott says. "There have been several studies showing the potential value of pharmacogenomics, which have typically focussed on specific drugs, specific genes, and specific clinical scenarios. For example, the UK's National Institute for Health and Care Excellence (NICE) have recently recommended that all patients who have had a stroke or a transient ischaemic attack (TIA) should undergo pharmacogenomic testing to guide the choice of antiplatelet therapy. This was based on a health economic assessment which demonstrated a potential value to the health system of hundreds of millions of pounds in prevented strokes and gained quality of life."
Having demonstrated that genomic data can be integrated into routine care pathways and successfully inform clinical decision making, the researchers now intend to leverage routinely- collected healthcare data at scale to investigate how these prescribing changes are impacting healthcare utilisation and establish whether the intervention reduces the need for further appointments, attendance in emergency departments, and overall prescribing costs.
"It was notable how frequently clinicians chose to follow the pharmacogenomic prescribing guidance. We think this reflects the fact that healthcare professionals had the data presented to them just like they would with any other biomarker. Prescribing is often adjusted based on things like renal function, and so we designed this intervention in a very similar way," says Dr McDermott. "We hope that in future individual pharmacogenomic profiling will become equally integrated and commonplace. Our study has shown that this is possible, and now we intend to show that it will also be beneficial from a health economic point of view."
Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics at NHS England, said: "This pioneering study shows how we can transform patient care through innovative approaches to personalised medicine. Seeing that more than a quarter of study participants had their prescriptions adjusted to safer or more effective treatments underscores the real difference this approach can make to people's lives. Pharmacogenomics will be a key part of the NHS Genomic Medicine Service in the future."
Chair of the conference Professor Alexandre Reymond said: "This research concerns us all, since every one of us has a handful of pharmacogenomic actionable variants in our genome. The use of a specific, genomically targeted treatment can greatly reduce the risk of a bad outcome related to these variants."
