Get ready to embed genomics into your practice

This article was co-written by Paul Selby, Dharmisha Chauhan, Hayley Wickens, Vicky Chaplin, Lucy Galloway, Jessica Keen, Rachel Palmer and Nisha Shaunak.

Genomic medicine is a cross-cutting discipline that involves using genomic information about an individual as part of their clinical care. Due to advances in knowledge and technology, genomics is being applied in numerous settings across the healthcare system. To enable the continued systematic embedding of genomic medicine into mainstream care, seven NHS Genomic Medicine Service (GMS) Alliances have been commissioned by NHS England and NHS Improvement (NHSE/I). 

This article describes the role of these new alliances, and how the pharmacy team are central to the establishment and work plan of these new regional infrastructures. 

What are Genomic Medicine Service Alliances?

The NHS Genomic Medicine Service in England is a world-leading initiative embed genomics into NHS care. At the heart of the NHS GMS is a strong ethos of embracing genomic technology and innovation to deliver faster diagnoses and more effective treatments for patients. 

The NHS GMS incorporates seven Genomic Laboratory Hubs (GLH) which are responsible for delivering regional genomic testing services in accordance with the National Genomic Test Directory. Aligned to these regions, seven NHS Genomic Medicine Service Alliances have also been established. The NHS GMS Alliances oversee and coordinate the embedding of genomics into mainstream clinical care and are an important link with personalised medicine. 

As the drive for personalised medicines moves quickly, the application of genomic information to medicines optimisation is becoming increasingly important.

Each NHS GMS Alliance has a critical role in facilitating strong collaborations across their large geographies, providing clinical leadership to enable the multi-professional workforce to use genomics safely, effectively and efficiently, and working with patients and the public to build trust in genomics. Together, the NHS GLHs and NHS GMS Alliances form a strong collaborative network dedicated to delivering equitable and consistent access to genomic testing and end-to-end care pathways across England.

The NHS GMS Alliances are leading on a number of national projects across the wider healthcare setting in conjunction with NHS England & Improvement:

Genomic Medicine Service Alliance Transformation Projects 2021-2022 

  • Optimising and improving the clinical effectiveness of DPYD gene testing for patients with cancer
  • DPYD gene testing was recommended before initiation of 5-fluorouracil (intravenous) and capecitabine to identify patients at increased risk of severe and fatal treatment toxicity in October 2020.
  • This transformation project is a national initiative to optimise and standardise the equitable implementation of DPYD pharmacogenomic testing, identifying barriers and building recommendations for multidisciplinary pathways and data collection, as an exemplar for future pharmacogenomic pathways. 
  • Embedding implementation of Familial Hypercholesterolemia (FH) services in primary care
  • A project which will increase recognition of and diagnostic testing for FH with an expected reduction in the risk of patients developing premature cardiovascular disease through improved management of blood lipids.
  • Delivery of a comprehensive service for the detection of Lynch syndrome
  • Lynch syndrome is an inherited genetic condition with an associated increased risk of cancer development and NHS GMS Alliances have been supporting testing and surveillance alongside cancer services.
  • Improving the identification and treatment of monogenic diabetes
  • This project focuses on raising awareness of monogenic diabetes and criteria for genetic testing to improve the rate of diagnosis, plus education on treatment optimisation.
  • Sudden Cardiac Death
  • NHS GMS Alliances are supporting the national British Heart Foundation pilot scheme by linking directly into the broader infrastructure of Inherited Cardiovascular Conditions units.
  • Pathology transformation 
  • This project focuses on building up the pathology infrastructure.
  • Embedding genomics into the nursing and midwifery workforce
  • This project focuses on the strategic and systematic integration of genomics across nursing and midwifery practice.
Pharmacy leadership within the Genomic Medicine Service 

Pharmacy expertise is central to the development and delivery of personalised medicine projects within the NHS Genomic Medicine Service.  Each NHS GMS Alliance has a Chief Pharmacist/Senior Responsible Officer (SRO) to provide strategic and operational delivery of services, and a Consultant Pharmacist post to provide clinical leadership, expert clinical practice and knowledge. 

These posts have now all been recruited to. Several of the GMS Alliance Lead Pharmacists are working towards consultant pharmacist accreditation in accordance with the national Royal Pharmaceutical Society credentialing process and will use the title Pharmacy Lead Genomic Medicine until credentialed as consultant-ready. 

The national pharmacy genomics lead, as part of the NHSE/I Genomics Unit works in collaboration with the NHS GMS Alliance Pharmacy Leads and other key stakeholders to embed genomic medicine into mainstream care and enable patients to realise the benefits of medicines optimisation driven by genomic and diagnostic characterisation. This lead role is also part of the Chief Pharmaceutical Officer’s Pharmacy Advisory Group, ensuring the work is coordinated across pharmacy and medicines developments across the NHS and government.

Although the NHS GMS Alliances are formed in England, there are strong partnerships with Scotland, Northern Ireland and Wales. The pharmacy genomics leads in England are working in collaboration with the devolved nation genomic pharmacy fellows and clinical leads to share learning, establish best practice, and ensure equity of access to genomic testing and personalised treatment. Collaboration to develop recommendations and competency frameworks, for the current and future roles and responsibilities of the pharmacy team in genomic medicine are also in progress. 

Furthermore, the national Genomics Pharmacy Advisory Group has been established to lead on the implementation of personalised medicine and embedding of genomics into pharmacy practice. This group brings together senior pharmacy leadership in genomics, including NHS GMS Alliance chief pharmacists and pharmacy clinical leads, NHSE/I Pharmacy Genomics team, Genomics Education Programme (GEP) representatives and pharmacy representatives from the devolved nations. The group priorities include embedding personalised medicine into clinical pathways, implementation of pharmacogenomics and pharmacy workforce development and transformation. 

The dynamic network of pharmacy genomics champions and advisors is growing every day. There are numerous colleagues leading the regional transformation projects outlined above and supporting local integration of genomics into practice. Pharmacy professionals are also working in new multidisciplinary teams comprising of clinical pharmacologists, genetic counsellors, clinical geneticists and other interested specialists. It is of the utmost importance that collaboration and multi-professional networks continue to grow and evolve, to enable the implementation of new genomic pathways and embed genomics across specialties.

Embedding genomics in medicines optimisation and everyday practice

There is huge potential for genomic technology to benefit patients by allowing precision diagnostics, avoidance of adverse events, and personalisation of treatment and dosage. The concept of tailoring treatment to an individual’s health needs is not new. However, the application of novel DNA sequencing technologies and informatics have enhanced our knowledge of the human genome and therefore increased the capacity for personalised interventions. As the drive for personalised medicines moves quickly, the application of genomic information to medicines optimisation is becoming increasingly important. 

The personalised medicine landscape is vast and may include treatments which fall into the following categories:

  • Advanced therapy medicinal products (ATMPs) 
    eg Chimeric antigen receptor T cells (also known as CAR T cells)
  • Targeted treatments
    eg cystic fibrosis transmembrane conductance regulator (CFTR) modulators, or targeted anti-cancer therapies
  • Predicting antibiotic resistance 
    eg Whole Genome Sequencing (WGS) to identify different strains of tuberculosis (TB) and detect drug resistance
  • Treatment stratification based on precision diagnostics 
    eg Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential
  • Pharmacogenomics 
    The study and clinical application of the genomic determinants of drug response, an evolving area of high importance for the pharmacy workforce. The goal of integrating pharmacogenomics into routine NHS practiceis to both provide patients with safer and more appropriate therapies and to avoid wasting time and money on treatments that are ineffective or could cause harm. Examples of pharmacogenomics in current practice include abacavir and HLA-B*5701 testing and fluoropyrimidines and DPYD gene testing.
Pharmacy workforce transformation: time to get involved?

Pharmacy will be an integral link between genomic testing, medicines optimisation and access to personalised treatments.  It is therefore vital that the pharmacy workforce have up to date knowledge and skills to adopt genomics into their current practice and provide the best possible care to patients.

The NHS GMS Alliance pharmacy leads are collaborating with key stakeholders such as NHS England & NHS Improvement, and Health Education England’s Genomics Education Programme (GEP), who host the national Pharmacy Workforce Group for Genomics.  Priorities include reviewing workforce development needs, coordinating workforce planning and delivering education and training opportunities to support the pharmacy workforce in managing genomic patient pathways.

Learning resources
  • An extensive range of educational resources and opportunities to learn more about genomics is available from the HEE Genomics Education Programme. These range from online courses, videos and podcasts through to fully taught courses. 
  • The Centre for Pharmacy Postgraduate Education (CPPE) offers an Introduction to genomics in pharmacy, introducing genomics and pharmacogenomics, and highlighting the opportunities they can bring to the provision of person-centred care.
  • The Royal Pharmaceutical Society offers An Introduction to Pharmacogenomics webinar to support understanding of the basic principles and underlying use of genetic information to help inform prescribing.
  • Start your genomics education journey in bite size chunks with the Genomic Education Programme Genomics 101 education series.

The opinions expressed in this article are those of the author. They do not purport to reflect the opinions or views of the UKCPA or its members. We encourage readers to follow links and references to primary research papers and guidance.

Competing interest statement: 

The author declares that she is the NHS North East & Yorkshire Genomic Medicine Service Alliance Pharmacy Lead and Health Education England’s Genomics Education Programme (GEP) pharmacy subject matter expert.


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