Genomic Medicine

The UK has a strong history in genomics from Watson and Crick’s discovery of DNA to the invention of DNA sequencing. The NHS has been undertaking genomic testing for decades and there has been significant government and NHS investments to support continued progress.

In 1990, an international consortium of researchers launched the Human Genome Project with the goal of sequencing the first whole human genome. The programme was completed in 2003 and yielded the discovery that there are approximately 20,500 human genes, of which 95% were a mystery.

On the back of that discovery, along with advances in technology, researchers set out to sequence and study more genomes in order to understand the role genes play in health and disease. In the UK, in 2012, this programme was called the 100,000 Genomes Project, which marked the birth of Genomics England to lead and coordinate the research.

Genomic medicine uses an individual's genomic information as part of their clinical care. Advances in science and technology, along with collaboration with the NHS Genomic Medicine Service (GMS), provides a unique way to integrate genomic medicine into routine care.

Here at Genomics England, we focus on developing analytical and IT systems that support the NHS to sequence whole genomes from patients (and their family members) with common cancers and rare diseases. The data we generate provides clinicians with more accuracy in diagnosing medical conditions and allows them to target therapies more precisely to their patients.

Ten years ago, it might have sounded like a fantasy to suggest that we would one day be able to develop individualised therapies, but both the advances in genomic sequencing and the introduction of the NHS Genomic Medicine Service (GMS) now make these claims a reality.

Using the genomic information we curate, the NHS GMS has already established early clinical conditions for whole genome sequencing, with future plans for more. They're also developing tests for another 120 cancer conditions and non-whole genome sequencing testing to include over 300 rare diseases.

Collectively, these advanced services will help eliminate the variables of 'trial-and-error' prescription and provide a significant new resource in transforming healthcare for the NHS.