Science and Technology Committee

21 April 2026

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Science and Technology Committee Tue, 21 Apr 2026 House of Lords

00:04 - 01:20

Speaker 1

Welcome to this morning's Select Committee on Science and Technology. We are continuing our investigation into the innovation in the NHS, personalized medicines and AI, and in particular we are interested in the role of genomics and the prospect of developing truly personalized medicine across prevention, diagnosis and treatment. We're very pleased to have as our first witness Professor Dame Sue Hill. She is Chief Scientific Officer at the NHS, head of the NHS Genomic Medicine Service. So, Dame Sue, I would like to start.

You've led the development of the NHS Genomic Medicine Service since it began, building on the work of the 100,000 Genomes Project that we heard about from Professor Samarc Caulfield. Could you set out for for us, please, what the genomic medicine service delivers today and how it benefits patients? And what are the achievements that you would highlight? So would you like to start with those, please?

01:21 - 03:45

Speaker 2

Thank you very much. And I think just for everyone's information, we have had genomic testing in the National Health Service for a long time. You know, in the nineteen sixties we were looking at chrom osomes down microscopes and I think what and over the period from that time to the start of the 100,000 genomes project, there had been variable testing across the NHS for patients in terms of the application particularly in rare and inherited disease. What the 100,000 Genomes project taught us was how, what level of transformation that we needed to happen within the National Health Service in terms of the clinical leadership, the infrastructure and the data and digital arrangements to support whole genome sequencing. In 2018 when we launched the NHS Genomic Medicine Service it was building upon those years of genetic testing within the National Health Service and then the experience of the 100,000 Genomes Project.

So the first thing we did was to establish a testing service, a genomic testing service. That meant that we could offer universal access to genomic testing as prescribed in a national genomic test directory. Previously access was variable depending on where you were in the country and if you overlaid outcomes, outcomes were influenced by access to genomic testing particularly in cancer. We also brought cancer genomic testing into our genomic laboratory hub infrastructure and drove some consolidation. So the first element was a laboratory infrastructure, infrastructure, the second was the introduction of something we called a genomic medicine service alliance to try and drive the embedding of genomics into end to end clinical pathways.

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