Genomics implementation in practice: opportunities, progress and challenges

Genomics is now an established area of the NHS, rather than a purely aspirational idea. In England, the NHS Genomic Medicine Service (GMS) — established in 2018 — has been tasked with implementing genomic services to improve health outcomes. Testing is nationally commissioned through the National Genomic Test Directory, delivered via seven genomic laboratory hubs, with regional GMS teams supporting implementation through workforce development, training and education^​1​.

The NHS genomics strategy — ‘Accelerating genomic medicine in the NHS’, published in 2022 — set out four priorities: an innovative service model; equitable testing for cancer, rare, inherited and common diseases; genomics at the forefront of the data and digital revolution; and service evolution through research and innovation^​2​. These ambitions sit at the centre of ‘Fit for the future: ten-year health plan for England’, which was published in July 2025 and positions genomics and predictive analytics as one of five core “big bets”, with a genomics population health service for early identification and prevention of common diseases, informed by research programmes in polygenic risk scores (PRS) and whole-genome sequencing (WGS), to be delivered through neighbourhood health teams^​3​.

Progress on testing to date is substantial. In 2024, the NHS GMS delivered more than 810,000 genomic tests in England, and the National Genomic Test Directory included tests for 7,000 rare and inherited diseases and more than 200 cancer indications^​4​. Alongside this, the Generation Study is sequencing 100,000 newborn genomes for over 200 rare, treatable conditions to assess whether earlier diagnosis can enable earlier treatment^​5​. If beneficial, and with appropriate consent, universal newborn genomic testing could be introduced at birth^​6​.

Routine NHS implementation of pharmacogenomics has also advanced and now includes DPYD genotyping for fluoropyrimidine chemotherapy, TPMT/NUDT15 genotyping for thiopurines in acute lymphoblastic leukaemia and CYP2C19 genotyping for patients eligible for mavacamten. The National Institute for Health and Care Excellence (NICE) also recommends CYP2C19 genotype testing to assess whether clopidogrel is suitable after ischaemic stroke or transient ischaemic attack^​7​. 

However, most testing is still reactive, undertaken when a medicine is about to be prescribed. Because a small number of pharmacogenes affect multiple medicines, panel-based testing is likely to be more useful in future, allowing results to be reused for subsequent prescribing decisions.

The ten-year health plan extends genomics further into prevention. It has proposed a population health genomics service using PRS and integrated risk scores to identify common disease risk earlier, and the expansion of WGS into common disease prediction in cardiovascular, renal and diabetes pathways^​3​. The Adult Population Genomics Programme will sequence 150,000 adults to evaluate how genomics could support routine preventive care, including pre-emptive pharmacogenomic testing^​8​. In cancer, the plan boldly states that genomics will be universally implemented, with molecular profiling and circulating tumour DNA (ctDNA) testing, supporting treatment selection and monitoring^​3​. ctDNA testing is now commissioned for non-small cell lung cancer and specific breast cancer indications, and is being embedded into routine care^​1,9​.

For pharmacy, one of the most important commitments in the ten-year health plan is the mainstreaming of pharmacogenomics as part of medicines optimisation^​3​. The plan links this to integration of pre-emptive pharmacogenomic results into the single patient record, aimed to reduce adverse drug reactions and improve efficacy. It also signals use of pharmacogenomics within the NHS ‘Health check’, which is delivered in patients aged over 40 years, and in mental health prescribing^​3​.

However, important challenges remain. 

A pre-emptive panel-based approach will depend on successful integration of results into the single patient record, adequate infrastructure for high-volume testing, incorporation of results into clinical decision support systems and a workforce able to use pharmacogenomics safely in prescribing^​3,10​. The ‘Pharmacogenetics roll out – gauging response to service’ (PROGRESS) study, part of the NHS England Pharmacogenomics Network of Excellence, launched rollout of phase II on 5 February 2025 and is expected to provide evidence on the feasibility and health economics of panel testing in primary care, with results presented to clinicians as prescribing advice, through general practice decision support systems, rather than as genetics reports^​10​.

Representation is another major issue to overcome; to fully realise the benefits of genomics, the evidence base must reflect the diversity of the UK population. Historically, much genomic research has been based on predominantly European ancestry populations, which may not capture important variants in other groups. Genomics England’s Diverse Data Initiative seeks to address this imbalance^​11​, while work such as the Molecular Genetics of Adverse Drug Reactions (MOLGEN) pharmacogenomics trial is aimed to identify DPYD variants in patients of non-European ancestries^​12​. Paediatric pharmacogenomics also raises additional questions around consent, data storage, system interoperability, cost-effectiveness and workforce preparation^​13​.

The ten-year health plan’s wider shifts — from analogue to digital, treatment to prevention and hospital to community — make neighbourhood delivery central^​3​. Genomic services are expected to be delivered increasingly through neighbourhood health teams, supported by “genomics champions” and by better use of genomic data, digital tools and the single patient record^​3,14​. This has direct relevance for pharmacy. Pharmacy professionals are expected to be integral to neighbourhood health teams and, as medicines experts, they will be central to genomics-informed medicines optimisation^​14,15​. Realising this opportunity will require training and support to ensure pharmacy professionals can use genomic information confidently in practice, supported by the national pharmacy genomics workforce training and education strategic framework^{​15–17​}.

Although not explicitly detailed in the ten-year plan, genomics has relevance beyond inherited disease and pharmacogenomics. Respiratory and pathogen genomics could support antimicrobial resistance surveillance, rapid infection diagnosis and national pathogen surveillance, helping to create an early warning system for future pandemics^​18,19​. For pharmacy, this links genomic innovation to safer and more targeted prescribing.

Overall, the NHS has made substantive progress since the 2022 NHS genomics strategy, but pharmacogenomics is not yet mainstream across NHS prescribing^​2​. Challenges remain around workforce capability, clinical decision support and IT integration, cost-effectiveness, commissioning and equitable implementation across diverse ancestries^{​11,12,15,16​}. 

However, from a pharmacy perspective, there is clear opportunity given the scale of medicines use, frequency of actionable drug–gene interactions and potential to reduce adverse drug reactions in both primary and secondary care, despite barriers^{​20–23​}. The central issue is no longer whether genomics has potential, but how to make it routine, digitally supported, equitable and commissionable at scale, in alignment with the ten-year health plan^​3​.

This article is brought to you as part of a collaboration with the UK Clinical Pharmacy Association (UKCPA).

The views expressed in this article are those of the author and are not attributed to any organisation.

The UKCPA is a member association for clinical pharmacy practitioners that encourages, supports and promotes advanced practice in pharmacy. 

To discover expert-led training, resources for clinical pharmacy practice and access ongoing support from our community of practicing clinical experts visit the UKCPA website or contact via email.