Pharmacy’s guide to genomic medicine

Genomic medicine is here and will increasingly affect all areas of pharmacy practice by enabling precision and personalised medicine with genomics-informed medicines optimisation. Genomic medicine involves utilising our knowledge of the effect of genomic variation to inform the clinical care of an individual patient. The NHS Genomic Medicine Service (GMS) is established and rapidly growing to incorporate more tests and services. This article is not exhaustive, but it discusses some genomic resources relevant to pharmacy professionals and their clinical practice and provides a guide to help the reader get started in genomics.

Networking opportunities

• Networking with interested peers to stay aware of developments is crucial, and the UKCPA Genomicscommunity and @UKCPAGenomics on Twitter keep members informed on recent events and discussions, and develop educational content for members.
• Make sure to also watch our for the upcoming series of genomics webinars for UKCPA members.
• For those interested in cutting-edge research, the UK Pharmacogenetics & Stratified Medicine Network was founded to support multi-disciplinary research collaborations between clinicians, academics, industry and regulatory sectors, and their members can subscribe to events, workshops, and you can watch their freely available recorded sessions and lectures on their UKPGx Network YouTube
• Finally, the British Oncology Pharmacy Association have a Genomic Medicine Special Interest Group which promotes embedding genomic medicine and pharmacogenomics into routine care.

Education and training initiatives and key resources

• The UK aims to be at the heart of the genomics revolution in healthcare, and NHS healthcare professionals are supported to develop their knowledge and skills in genomics through NHS England’s National Genomics Education (formerly known as Health Education England’s Genomic Education Programme). This programme offers a selection of free education opportunities ranging from bitesize self-learning, taught individual continuing professional development modules, to postgraduate certificates, diplomas, and master’s degrees.
• NHS England’s National Genomics Education also hosts the Clinical Pathway Initiatives which are a collaboration between NHS England, National Genomics Education, and the Academy of Medical Royal Colleges to facilitate the integration of genomic medicine through the alignment of patient pathways, workforce development, and education and training requirements. These are excellent to get you started in your genomics journey and you can personalise some parts to your area of practice or desired level of genomics expertise.
• The Royal Pharmaceutical Society’s Pharmacogenomics page, supported by the associated stakeholder group, offers resources for all pharmacy professionals, championing pharmacy’s role in genomic medicine, and offers relevant webinars to members.
• The Centre for Pharmacy Postgraduate Education genomics gateway also signposts pharmacy professionals to genomics resources which includes a self-assessment quiz to test your knowledge and two introductory CPD modules.

Clinical pharmacogenomics resources

• National Genomics Education have developed GeNotes (Genomic notes for clinicians), which includes monographs on genomic medicine ranging from general concepts, to discussing specific conditions or pharmacogenomic tests. GeNotes has been developed as an open-access information hub, to be accessed in the clinic or at the readers leisure to enhance general understanding of genomics.
• The National Genomic Test Directory specifies which genomic tests are commissioned in the NHS Genomic Medicine Service in England, the technology by which they are available, and the patients who will be eligible to access a test.
• There is currently no single repository for clinical guidelines on actions following a pharmacogenomic test result. However, in association with the UK Systemic Anti-Cancer Therapy (SACT) Board, the British Oncology Pharmacy Association have published guidance on DPYD pharmacogenetic testing for patients due to commence fluoropyrimidine systemic anti-cancer treatment.
• The Welsh Health Specialised Services Committee also offers tests listed in the National Test Directory in Wales, which are provided by the All Wales Genomic Laboratory service which is part of the All Wales Medical Genomics Service.
• Laboratory tests offered in Scotland are listed in the germline and molecular pathology test directories and are available on the Scottish Strategic Network for Genomic Medicine More information for Northern Ireland Regional Genetics Laboratories – Molecular Genetics can be found on their website.

Internationally, guidelines have been produced discussing the evidence and suggested next steps for some drug-gene pairs, but it should be noted not all these tests may be available within the genomic medicine services outlined above. Linking medicines optimisation and genomics is a national priority and work is underway reviewing the evidence for implementation of pharmacogenomics in the NHS. In addition, applications may be made to the test directory for pharmacogenomic tests, as with other genetic tests. However, these guidelines can support the reader’s knowledge of pharmacogenomics and facilitate the implementation of these tests in the future GMS, or help support decision-making if a patient presents with test results accessed through private providers.

• The Clinical Pharmacogenomics Implementation Consortium are guidelines designed to help clinicians understand how available genetic test results should be used to optimise drug therapy, but do not comment on cost-effectiveness or whether a test should be made available.
• Similarly, the Dutch Pharmacogenomics Working Group offer alternative guidelines in English, although the website is in Dutch. 
  Note: To download the pdf, use the side bar to navigate to “Achtergronddocumenten” or “Background Documents” if your browser translates the page. The document link is under “Pharmacogenetic recommendation text“. 
  Not all drug recommendations are updated in each release. This group are also progressively publishing their guidelines in the peer-reviewed European Journal of Human Genetics.
• Finally, the British Inherited Metabolic Diseases Group have developed formularies to support prescribers across the NHS in decisions around the prescription and monitoring of treatments for rare inherited metabolic disorders.
• Alternatively, the independent Rx-Genes.com offers an online compendium of treatable genetic disorders and potential evidence-based treatments to explore.

Key policy and strategy drivers for genomic medicine in England, Wales, Scotland, and Northern Ireland

Genomic Medicine is at the forefront of UK and NHS priorities. Drivers include the published NHS England GMS strategy Accelerating genomic medicine in the NHS (2022), which sets out the NHS GMS commitments for embedding genomics in the NHS over the next five years.

Other drivers for the NHS Genomic Medicine Service include:

• Life Sciences Strategy
• Genome UK
• Genome UK implementation plan 2021 to 2022
• Generation Genome
• NHS Long Term Plan
• Improving Outcomes Through Personalised Treatment: NHS England.

Keep an eye on NHS England’s Genomics Publication pages for more updates.

In addition to the Royal Pharmaceutical Society position statements, a Royal College of Physicians and British Pharmacological Society joint working party report on Personalised prescribing: using pharmacogenomics to improve patient outcomes discusses the opportunities provided by increasing pharmacogenomic testing and highlights the importance of pharmacy.

In the devolved Nations, similar approaches have been taken. In Wales, the Genomics for precision medicine strategywas produced by Welsh Government in 2017. A Genomics Delivery Plan for Wales was then launched in 2018 and updated for 2022 to 2025. Genomics Partnership Wales (GPW) was formed in 2018 and consists of eight partners including Welsh Government, All Wales Medical Genomics Service (AWMGS) and the Wales Gene Park. GPW have the vision to ‘work together to harness the potential of genomics to improve the health, wellbeing and prosperity of the people of Wales.

In Scotland, Informing the Future of Genomic Medicine in Scotland, a report from the Scottish Science Advisory Council, summarises genomic services in Scotland with Chapter 6 focussing on pharmacogenetics, and the recent strategy on Genomics in Scotland: Building our Future setting the government’s intentions around genomics. The Scottish Strategic Network for Genomic Medicine was established in August 2022 to provide a seamless, sustainable, and scalable genomics service for Scotland now and for the future.

Finally, in Northern Ireland, The Regional Molecular Diagnostic Service encompasses all molecular diagnostic tests for patients with cancer, haematological conditions, rare genetic disorders and hereditary cancers, led by staff from Regional Genetics, Molecular Pathology and Molecular Haematology. A Cancer Strategy for Northern Ireland 2022-2032 and the UK Rare Diseases Framework were launched in 2022.

Pharmacy has an important role to play in implementing genomic medicine in routine clinical care linked to medicines optimisation, and there are a number of resources to support staff and pharmacy leaders in this endeavour.

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 his roles for the NHS East Genomic Medicine Service Alliance – Clinical Pharmacy Lead and NHS England’s Genomics Unit – Senior Manager – Pharmacy & Genomics.