Media contributions
1Media contributions
Title Written evidence from Peter Freeman, Lecturer in Healthcare Sciences (Clinical Bioinformatics and Genomics), The University of Manchester and support by Policy@Manchester (PMA0037) Generative AI was used to assist in the initial drafting of this response. The author accepts responsibility for the contents of this submission. Degree of recognition National Media name/outlet https://committees.parliament.uk/work/9659/innovation-in-the-nhs-personalised-medicine-and-ai/publications/written-evidence/?page=4 Country/Territory United Kingdom Date 20/05/26 Description Executive summary
This submission responds specifically to Question 3: Health Data Research Infrastructure. Drawing on my technical leadership in genomic data standards, international editorial experience, and work training NHS bioinformaticians, it outlines the key systemic deficiencies in the UK’s health and genomic data infrastructure and provides concrete recommendations to ensure the NHS can fully realise the benefits of personalised medicine and AI.
The key barrier to NHS genomics innovation is not sequencing or computational limitations, but inconsistent and inaccurate variant data standards, which prevent reliable linkage across labs, electronic health records, research systems and AI tools.
Variant nomenclature errors are universal and systemic, undermining diagnostic accuracy, evidence discovery and AI training; without enforced HGVS‑aligned standards, national datasets will remain fragmented.
The NHS lacks a central, standards‑aligned genomic database and validated data‑egress tools, resulting in divergent representations across Genomic Laboratory Hubs, and blocking national reanalysis, AI deployment and evidence pooling.
Government action is needed to mandate standards, co‑commission specialist national tooling, and invest in the genomics bioinformatics workforce, ensuring interoperability, public trust, improved diagnostics and UK leadership in personalised medicine.Producer/Author Peter Freeman, Policy@Manchester URL https://committees.parliament.uk/writtenevidence/165745/html/ Persons Peter Freeman