Case studies

Advancing the application of pharmacogenomics via digital innovation; introducing ProgressRX

Almost half of all UK adults regularly take prescription medicines and the annual NHS budget for medicines is approximately £17.4 billion per year, with over 1.1 billion items prescribed annually.

Medicines are the most common therapeutic intervention in healthcare, yet the efficacy and safety of many drugs show considerable interpersonal variation; some patients have been prescribed medication that does not work well, while others develop reactions to their medicines.

One approach to addressing adverse or ineffective medication reactions is to use knowledge of an individual’s genetic information to support medicines optimisation, better informing medicine selection and dosing, a concept known as pharmacogenetics.

Pharmacogenetics is the study of genetic causes of individual variations in drug response, whereas Pharmacogenomics (PGx) is the study of how variations in the human genome dictate a person's response to medications, and how we can leverage the knowledge of an individual’s genetic information to support medicines optimisation, better-informing medicine selection, and dosing.

The North West Genomic Medicine Service Alliance are leading on the national Pharmacogenomic and Medicines Optimisation NHS Genomic Network of Excellence across England, supporting the roll out of pharmacogenomics (PGx) and medicine optimisation across the NHS.

The Pharmacogenetics Roll Out – Gauging Response to Service [PROGRESS] programme is an NHS England (NHS E) funded transformation project led by researchers at Manchester University NHS Foundation Trust (MFT) and the NHS NW Genomic Medicine Service Alliance (NWGMSA), to investigate the feasibility of delivering pre-emptive pharmacogenetic panel testing in primary care in the NHS.

A key element of the study is the development of a digital proof of concept which translates genetic test results into prescribing advice, within a primary care setting.

Introducing ProgressRX

ProgressRX harnesses the power of pharmacogenomic data, as an ‘end-to-end diagnostic interpretation tool’ which uses existing NHS clinical data systems.

Initial trials are currently taking place within primary care, which have proven where ProgressRX has bridged the gap between the interpretation of genomic test data, and enhanced prescribing practice, without increasing cognitive burden on the prescriber.

By streamlining the integration of pharmacogenomic data into existing clinical decision support (CDS) systems, ProgressRX is a technological milestone which embodies the collective efforts of stakeholders committed to advancing genomic medicine and delivering superior patient care.

How does ProgressRX work?

• It provides real time PGx guidance, for prescribers/practitioner with clinical safety paramount.
• It maximises access and utilisation of available pharmacogenomic data, supports and harnesses existing NHS clinical decision support (CDS) systems.
• CDS systems are digital tools that can support clinicians to make equitable, evidence-based decisions. They can be used across care settings, specialties, and pathways to improve healthcare delivery and reduce errors.
• Transformation of healthcare services with CDS requires consideration of several critical success factors – encapsulated by the six Is: inclusive, intelligent, interpretable, integrated, impactful, interoperable.
• Genomic test results are interpreted and kept, to inform the prescribing process within General Practice, Primary Care Pharmacy, Mental Health Trusts, and Acute Hospital settings.
• If no PGx guidance needed, then no message is generated. There is no added cognitive burden on the prescriber/practitioner.
• The service uses the individuals’ NHS number to ensure that the correct patient is found.
• Guidance is tailored to individual patients, in line with their genomic data, for all prescribing events.
• ProgressRX has been developed in line with the national Unified Genomic Record (UGR) which is a virtual case note, and enables the collation of genomic data, to develop a single genomic profile which can be managed and updated over a lifetime, whilst ensuring compatibility and interoperability across healthcare settings.
• The digital service is hosted in the NHS cloud which seamlessly integrates with existing clinical decision support systems which currently provide pharmacogenomic guidance ‘natively.’

Through strategic partnerships and collaborative efforts, ProgressRX is poised to set a new standard for genomic medicine services, driving innovation and enhancing patient care on a regional and national scale.

Key partnerships

With trials underway at selected sites, the potential of ProgressRX to optimise medication utilisation and improve patient outcomes becomes increasingly clear.

Moving forward, ProgressRX will be evaluated across existing systems to optimise and migrate existing genetic information, supplying longevity to the individuals’ genetic profile.

Collaborative working and digital innovation are at the heart of the project, in support of effective implementation of an informatic solution, a single version of the truth, which can communicate the results of pharmacogenetic testing, without adding added burden to professionals at the point of care. The project not only showcases technological innovation but also highlights the collaborative efforts of various stakeholders in advancing enhanced patient care in the North West and beyond.

Professor Bill Newman, Consultant in Genomic Medicine at MFT and Clinical Director, NHS North West Genomic Medicine Service Alliance said: “At its core, pharmacogenetics uses individual genetic information to guide medication selection and dosing. This tailored approach to medicine optimization holds immense promise for personalised patient care.

Professor Newman, who is also Rare Conditions Co-Theme Lead at the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC), added; “For the implementation of pharmacogenetics within healthcare to be effective, an end-to-end service like ProgressRx which links testing to prescribing needs to be developed and embedded in practice”.

Scott Watson, Genomics Informatics Director, NHS North West Genomic Medicine Service Alliance added: “Traditionally, genomic testing has been siloed within healthcare systems, with results often confined to specific platforms or geographical boundaries. This fragmented approach not only limits the sharing of valuable genetic insights but also places a significant cognitive burden on prescribers, who must interpret results for each prescribing event.

“Trials are currently underway at selected sites, building upon first discovery work, which is an exciting prospect given ProgressRX’ s ability to integrate with existing CDS, to optimise the utilisation of pharmacogenomic data for patients and prescribing decisions.

“The feasibility study for ProgressRX has shown that the service enhances patient care, but also supplies significant cost efficiencies in relation to medicine optimisation”.

Dr David Lewis, GP, Vauxhall Health Centre, Liverpool said: “This is a fantastic study, and we are delighted to be involved. Pharmacogenomics may improve prescribing as it will help us give people the right dose of the right drug for them.  As a digital proof of concept, ProgressRX enables prescriptions to be tailored to the individual, informed by their genetic test results.

“Hopefully in the future anyone who chooses can give a saliva sample once in their life, and then whenever they start or change medication, their prescriber will have easy access to information to guide the best choice of drug for that person”.

Ends

About Manchester University NHS Foundation Trust

Manchester University NHS Foundation Trust is the largest NHS Trust in the country and a leading provider of specialist healthcare services. Its ten hospitals are home to 28,000 staff including world class clinicians and academic staff committed to finding patients the best care and treatments. Its hospitals are Manchester Royal Infirmary, Saint Mary's Managed Clinical Service, Royal Manchester Children's Hospital, Manchester Royal Eye Hospital, University Dental Hospital of Manchester, Trafford General Hospital, Altrincham Hospital, Wythenshawe Hospital, Withington Hospital and North Manchester General Hospital. More information is available at www.mft.nhs.uk

About the North West Genomic Medicine Service Alliance

The NHS North West Genomic Medicine Service Alliance (NW GMSA) is one in a network of seven regional alliances launched in England in January 2021 by the NHS Genomic Medicine Service (GMS) to oversee and co-ordinate the embedding of genomics into routine healthcare across England.  In October 2022, NHS England published Accelerating Genomic Medicine in the NHS, the first NHS genomics strategy, which included the establishment of eight ‘NHS Genomic Networks of Excellence’ to develop the evidence and model of adoption for cutting edge genomic advances and technology applications that will be transformative for patients. The networks of excellence sit within the existing network of Alliances, across England. More information is available at www.nw-gmsa.nhs.uk 

GEN-O Technology Revolutionises Genomic Medicine Services in the North West: Manchester University NHS Foundation Trust's Innovative Approach to Enhanced Patient Care

Overview:

In the dynamic landscape of genomic medicine, the GEN-O application has proven its ability in revolutionising patient care within the North West of England.

Originally developed by Manchester University NHS Foundation Trust (MFT), this groundbreaking application, known as GEN-O, is reshaping virtual care pathways, resulting in faster diagnosis, treatment, and collaborative multi-disciplinary efforts across clinical specialisms and geographic boundaries.

GEN-O was initially deployed within the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital and Manchester Royal Eye Hospital, both part of MFT and is currently being expanded in other clinical areas across the Trust.

The platform seamlessly brings together a patient's genomic information, simplifying the process of ordering genetic testing, reviewing results, and helping discussions across diverse disciplines.

This comprehensive approach aims to provide the best possible care management and treatment for patients with rare diseases.

Project overview:

The overarching goal of the GEN-O multi-site pilot project is to show its effectiveness at a geographical scale, introducing a new model of care for rare disease patients within the NHS, across the North West.

The project looks to showcase the benefits of widespread adoption of the GEN-O application. As a web-based tool, GEN-O, is designed to function across all NHS organisations, offering its benefits to all patients and referrers.

Key partnerships:

A collaborative effort, the project brings together MFT, the NHS North West Genomic Medicine Service Alliance (NW GMSA), the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC), and Answer Digital.

Answer Digital supports organisations to use technology to improve their operations and were appointed by the NW GMSA, to support the project.

Their work included undertaking feasibility studies as part of a discovery work with Salford Royal, part of the Northern Care Alliance NHS Foundation Trust, as well as Alder Hey NHS Foundation Trust, to understand how the technology could be scaled across these organisations, understanding the “pain points” experienced by clinicians, visualising them and then translating them into practical solutions.

Answer Digital implemented information governance processes across pilot sites, including a ‘review and approve’ cycle, in line with each Trust’s processes, ensuring that the roll out of GEN-O is clinically safe, compliant with data security standards and cause minimal disruption to patient care.
 

Status, trials, and outcomes to date:

Trials are currently underway at selected sites, building upon discovery work that found GEN-O's potential to streamline processes within neurological and paediatric pathways.

GEN-O has also supported the ongoing pharmacogenomics clinical trials, as part of the Pharmacogenetics Roll Out – Gauging Response to Service (PROGRESS) programme which seeks to establish the feasibility of providing an NHS-wide diagnostic service to identify genetic changes associated with commonly prescribed drugs.

The ongoing trials aim to increase the accessibility of the tool to a wider range of professionals, enabling the project team to:

• Scale the use of GEN-O to multiple NHS trusts, piloting the platform at Alder Hey NHS Foundation Trust, and Salford Royal, part of the Northern Care Alliance NHS Foundation Trust.
• Expand the use of GEN-O to include neurology and paediatric pathways.
• Translate clinical needs into tangible solutions, such as bringing cancer functionality into GEN-O.
• Standardise data processes across the North West, enabling better treatment decisions.
• Develop an Application Programming Interface (API).
• Reduce time spent on admin by up to 70%, enabling faster decision making.

An API is a way for two or more computer programs to communicate with each other. It is a type of software interface, offering a service to other pieces of software.

This is an exciting prospect, given GEN-O’s ability to integrate data from Genomics England Clinical Interpretation Portal, supporting a full genomic record.

Further integration work is in progress, allowing seamless collaboration between geographically dispersed health systems, efficient data sharing across family members, and enabling innovation through data analytics.

Professor Graeme Black, Clinical Geneticist at Manchester University NHS Foundation Trust, said: “GEN-O can cross hospital boundaries, enhancing patient care, including diagnosis and treatment, whilst reducing burdens on clinical staff and enabling us to work in increasingly collaborative ways.

“GEN-O is a scalable solution, so our challenge is to see if we can continue to nurture the solution and bring its benefits to more Trusts across the country.”

David McCormick, Chair of the NHS North West Genomic Medicine Service Alliance Patient and Public Voice Panel (PPV) added: “As a patient of Professor Black, and Chair of the Alliance’s PPVP, it is reassuring to know that via GEN-O, my genomic information is available to those involved in my care, quickly, efficiently and most importantly securely, so that I continue to receive the best care management and support”.

Paul Wye, Healthcare Delivery Principal, Answer Digital, also added: “By standardising the GEN-O tool and making it possible to scale its use, the potential to improve genomic medicine in North West England is huge. We are really proud to be a part of such important work with the NW GMSA, MFT, and the NIHR Manchester BRC, and look forward to seeing the project unfold and show other organisations across the NHS what is possible.”

Upon completion of the trials, a comprehensive assessment of GEN-O will be conducted to better understand its potential impact on genomic testing, data sharing and multi-disciplinary, cross-speciality collaboration.

The project not only showcases technological innovation but also highlights the collaborative efforts of various stakeholders in advancing genomic medicine services, setting a precedent for enhanced patient care in the North West and beyond.

About our hosts, Manchester University NHS Foundation Trust

Manchester University NHS Foundation Trust is the largest NHS Trust in the country and a leading provider of specialist healthcare services. Its ten hospitals are home to 28,000 staff including world class clinicians and academic staff committed to finding patients the best care and treatments. Its hospitals are Manchester Royal Infirmary, Saint Mary's Managed Clinical Service, Royal Manchester Children's Hospital, Manchester Royal Eye Hospital, University Dental Hospital of Manchester, Trafford General Hospital, Altrincham Hospital, Wythenshawe Hospital, Withington Hospital and North Manchester General Hospital. More information is available at www.mft.nhs.uk

About the NIHR

The mission of the National Institute for Health and Care Research (NIHR) is to improve the health and wealth of the nation through research. We do this by:

• Funding high quality, timely research that benefits the NHS, public health and social care;
• Investing in world-class expertise, facilities and a skilled delivery workforce to translate discoveries into improved treatments and services;
• Partnering with patients, service users, carers and communities, improving the relevance, quality and impact of our research;
• Attracting, training and supporting the best researchers to tackle complex health and social care challenges;
• Collaborating with other public funders, charities and industry to help shape a cohesive and globally competitive research system;
• Funding applied global health research and training to meet the needs of the poorest people in low and middle income countries.

NIHR is funded by the Department of Health and Social Care. Its work in low and middle income countries is principally funded through UK Aid from the UK government.