Genomic Science and Emerging Technologies

CSA19 - Genomic Science and Emerging Technologies

Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA and sequencing is a technique that is used to ‘read’ DNA.

In 2012, the then-Prime Minister, David Cameron, announced a highly ambitious project to sequence 100,000 whole genomes from NHS patients to see if this could result in better diagnosis and treatment for patients. The project was a ‘moon-shot’ and a world first, as something of this scale had never been done before, and the infrastructure and resources needed to deliver it had to be established. The project also aimed to stimulate the genomics industry and genomics research in the UK.

Unlike other global genomic sequencing initiatives, the project was a health transformative programme, combining elements of research and clinical application in routine care. Potential participants with a rare disease or certain cancers were identified through routine care pathways in 13 NHS Genomic Medicine Centres established by NHS England. The development of the evidence via the cancer cohort of the project led to a completely new and innovative process in NHS cancer pathology and changes to over 400 care pathways for cancer.