Integrating pharmacogenomic guided prescribing into routine clinical practice microbiologystudy

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 health care professionals in a clinically relevant format and timeframe. This has meant that, to date, only a limited number of patients have been able to benefit from such individually optimized treatments.

At the annual congress of the European Society of Human Genetics, Dr. John McDermott, NIHR Academic Clinical Lecturer at the University of Manchester, Manchester, UK, described how he and his colleagues, as part of the NHS-England Network of Excellence for Pharmacogenomics & Medicines Optimization, 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 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 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 health care record systems used globally. This means that health care professionals need not worry about interpreting genetic reports; instead, they receive contextualized guidance within their existing systems as part of the normal workflow,” says Dr. McDermott.

The PROGRESS program recruited patients from 20 sites across England following prescription of common medicines—statins, opioids, antidepressants, and proton pump inhibitors—and pharmacogenomic guidance was returned and integrated into the electronic health care 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 turnaround 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 focused on specific drugs, specific genes, and specific clinical scenarios.

“For example, the UK’s National Institute for Health and Care Excellence (NICE) has recently recommended that all patients who have had a stroke or a transient ischemic 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 health care data at scale to investigate how these prescribing changes are impacting health care utilization 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 health care 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 personalized 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.”