Transforming healthcare with the 100,000 Genomes Project

At every Irish Cardiac Society Annual Scientific Meeting, an individual who has made an outstanding contribution to cardiology and has Irish connections is invited to deliver the prestigious Stokes Lecture.

The 2024 Stokes Lecture was delivered by Prof Sir Mark Caulfield, Professor of Clinical Pharmacology at Queen Mary University of London, UK. Among his many other distinctions, Prof Caulfield was appointed Chief Scientist for Genomics England in 2013, charged with the delivery of the 100,000 Genomes Project on whole-genome sequencing in rare disease, cancer and infection, and was awarded a knighthood in 2019 for his leadership of the project. His talk to the ICS meeting was titled: ‘The 100,000 Genomes Project: Transforming healthcare’.

Prof Caulfield provided an overview of the birth and development of the project, as well as some case studies. “In the 100,000 Genomes Project, we achieved 20-to-25 per cent diagnosis where there was no diagnostic achievement in rare diseases previously, and 25 per cent of the findings influenced cancer,” he said.

“As a result of this programme, we have published data on about 17,339 patients with cancer; 13,380 had solid tumours, and this has led to ovarian cancer and brain cancers being sequenced with whole genomes in the NHS, in addition to sarcoma and some haematological malignancies.”

Prof Caulfield added: “In England at least, there is a national genomic medicine service with a consistent and equitable care being offered. It’s not quite there yet; it’s a work in progress for 56 million people. I want that [service] to be here in Ireland, Scotland and Wales, and I still work with some of the people in these countries periodically to try to achieve that.”

He said such a service should be standardised with the same opportunities available for genomic consent and a test directory that moves from simple single gene tests to whole-genome sequencing. “Testing in genomics will be a mixed economy,” he stated. “It’s not all about whole genomes – we don’t need whole genomes for everything.”