Genomics in medicine

Such ‘personalised or precision medicine’ is a paradigm shift away from a ‘one size fits all’ approach to the treatment and care of patients with a particular condition, to a strategy that incorporates new approaches to better manage patients’ health and targets therapies.

The Life Sciences Sector Plan (2025) positions genomics as a core enabler of prevention, early detection and personalised medicine, integrated with data and AI to drive NHS transformation and UK leadership in life sciences innovation. The NHS 10-year plan in England – published in 2025 – identifies genomics and predictive analytics as a major enabler of a prevention-focused, data-driven NHS to drive system-wide reform. This is explicitly linked to the NHS’s 3 big shifts of treatment to prevention, hospital to community and analogue to digital. The National Cancer Plan for England (2026) committed to every cancer patient who would benefit from a genomic test getting one in a clinically relevant timeframe. 

This is all in order to achieve the best outcomes in the management of a patient’s disease and/or predisposition to the disease. All healthcare professionals need to have a good understanding of its relevance and potential to impact the diagnosis, treatment and management of their patients within their care.

Genomics testing and strategy across the UK

The National Genomic Healthcare Strategy – Genome UK: the future of healthcare was published by the Department of Health and Social Care and sets out their vision on how the genomics community across the UK will work together to harness the latest advances in genetic and genomic science, research, and technology for the benefit of patients across diagnosis and personalised medicine, prevention and research. 

Genomic testing across the UK is guided by the Shared Commitments for Genomic Healthcare (2022–2025). This joint UK government and devolved governments publications agreed to publish separate, nation‑specific plans which have since been developed.  

NHS England published Accelerating genomic medicine in the NHS, Wales has published a Genomics Delivery Plan for Wales, Scotland published Genomic medicine strategy 2024 to 2029 and Northern Ireland has committed to strategic initiatives. In England Genomic testing is delivered through the NHS Genomic Medicine Service (GMS) via 7 regional Genomic Laboratory Hubs (GLHs), each working to the National Genomic Test Directory. Scotland, Wales and Northern Ireland each have their own arrangements for requesting genomic tests.  

The College's view on genomic medicine

• Genomic medicine offers faster, accurate diagnosis and tailored treatment for people with cancer, and with inherited diseases. The use of precision treatments and optimising the use of medicines through genomics needs to be endorsed.
• We should embed and promote fully funded end to end clinical pathways.
• We cannot deliver the true potential of genomics without significant investment in staffing and equipment for Pathology/Genomic Laboratories. Successful implementation of genomic medicine is dependent on sufficient resourcing and a regulated workforce to meet the service demands.
• It is essential that there is equity of access to genomic tests and treatment across the UK to truly benefit all patients. Without continued investment, vital innovation and research will suffer which will in turn lead to fewer patients benefiting from genomic testing.
• Evidence-based medicine is the cornerstone of these developments, and it is vital to integrate research and data collection into monitoring clinical outcomes for patients.
• While there has been significant investment in genomics, there needs to be continued resource provision for the significantly increased workload genomics will create for cellular pathology to process and analyse histological samples for genomic testing, which will grow over time. Without this being addressed there will be issues in providing the quality and level of genomic service desired. Standardisation of sample preparation and tumour assessment to optimise genomic testing is required.
• These advances in genomics will also lead to new technologies such as the development of cancer vaccine hubs and associated trials. Pathologists and Clinical Scientists are integral in all cancer trials, and hence also embrace the opportunity in help deliver these vaccine trials.
• Collaboration will be required to fully realise the impact that digital pathology will have on genomic testing and we will work closely to ensure that the college helps embed new ways of working. 

Genomic testing in cancer pathways 

As genomic testing continues to become embedded in cancer pathways, key challenges in service provision need to be addressed. Only 3% of services who responded to the College 2025 Workforce Census reported always meeting the 14‑day national target for National Optimal Lung Cancer Pathway (NOLCP) genomic testing. The biggest reported barriers to meeting these targets were high sample volume and workload (68%), staffing or specialised personnel shortages (64%) and administrative or logistical inefficiencies (51%). These delays can and have compromised timely treatment decisions, patient safety, access to targeted therapies and eligibility for time‑sensitive clinical trials. 

Services continue to face fragmented reporting pathways, poor IT interoperability and outdated Laboratory Information Management Systems (LIMS). About three-quarters (76%) of respondents to the Census report that they still receive paper requests.  

The College is working to ensure that genomics services in the UK are designed and delivered in a way that supports high‑quality, timely cancer diagnosis and care.

Workforce challenges

We welcome the intention to build a genomics workforce that includes clinical scientists, biomedical scientists, genetic technologists and doctors. This should include their role in education, through engagement and training programmes, for the wider community of healthcare professionals and the public.

However, it is clear that the workforce implications of genomics testing go beyond genetics services. Similar considerations must be made for the histopathology workforce in particular, as well as other disciplines where sample assessment and preparation for testing as well as in most instances the integration of genomic data into pathology reports.

Also on the agenda