Strong foundations have been laid for patient and public involvement and co-production, with a three-tiered approach established to ensure a broad range of opportunities for patients and the public to work with us to strengthen the quality of genomics output.

Our ambition is to further develop our approach to involvement and to embed it as a core function of genomics services and research activity in Wales.

We recognise that no advancement in technology or new equipment in isolation can benefit patients, and investment in the workforce is vital. This is particularly critical for workforce groups where there are national shortages. Engagement and support from senior leaders across the NHS will be crucial in enabling us to empower and up-skill the non-genomics healthcare workforce. This is vital to the integration of genomics into the patient pathways where clinical care is improved.

Human genomic medicine for rare disease, cancer and pharmacogenetics is a rapidly evolving field with the capability to transform healthcare outcomes through improving prevention, diagnosis, and treatment of disease. Rapid advances in treatments using gene therapy will require an integrated approach, where genomics will underpin treatments. Personalised medicine will be an integral and vital aspect of future mainstream healthcare in the NHS in Wales. It will incorporate and embrace the latest in genomic advances bringing the greatest benefit to our patients.

We will establish a collaborative public health system in Wales that uses genomics to strengthen screening, diagnostic and care pathways in those at high risk. The increased availability of genomic data creates new opportunities for precision healthcare and precision public health, where population-level insights can be derived for population and patient-level benefits.

We will also enable and encourage lifelong good mental health and wellbeing by anticipating, predicting and acting to improve outcomes in those at increased genomic risk of poor mental health and associated poor physical health.

Pathogen genomics is transforming how we deliver healthcare in Wales, from patient to population. It enables us to offer a new way of working – Precision Public Health, integrating, in real-time, the diagnosis and characterisation of pathogens that infect individuals, with efforts to prevent disease and control outbreaks on a population level.

Research and innovation in the field of genomics and precision medicine is advancing at scale and great pace, worldwide. Genomics research and innovation in Wales has established strengths in cancer, dementia, mental health, rare disease, and pathogen genomics. More recent and ongoing developments include liquid biopsy, long-read sequencing, pharmacogenomics, functional genomics (single cell and spatial transcriptomics, and epigenomics) and new-born screening. These are areas that are receiving substantial interest and investment where Wales has the potential to emerge as a UK and global leader. This will include delivering clinical trials

For the ambitions within this Genomics Delivery Plan to be realised, from research through to the provision of clinical services, there are several key enablers fundamental to provide the necessary foundations. These include infrastructure, digital capabilities, commercial partnerships, and funding