100,000 genomes sequenced through pioneering UK DNA project

6 December 2018        

Category: BHF Comment

Health Secretary Matt Hancock has today announced that the 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has reached its goal of sequencing 100,000 whole genomes from NHS patients.

The ground-breaking programme was launched by then-Prime Minister David Cameron in 2012, with the goal of harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases, including heart conditions and cancer. The task was to make the UK a world leader within five years.

The 100,000 Genomes Project has delivered life-changing results for patients, with one in four participants with rare diseases receiving a diagnosis for the first time.

To do this Genomics England worked with NHS England to create 13 NHS Genomic Medicine Centres (GMCs) to support the project, a state-of-the-art sequencing centre run by Illumina, Inc. and an automated analytics platform to return whole genome analyses to the NHS.

BHF involvement

Our chief executive, Simon Gillespie, took part in the project as a result of his inherited, and unexplained, high cholesterol. Speaking about his involvement earlier this year, Simon said:

“My father sadly died from a heart attack the day before his 58th birthday, when I was just 19 years old. Fifteen years later, when I was in my 30s, I was diagnosed with abnormally high cholesterol, despite being young and leading a reasonably healthy lifestyle. My family history suggested I might be carrying a gene, inherited from my father, causing high cholesterol in my blood stream. But this has never been proven for sure.”

A genomic medicine service for all

The UK has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.

The project has laid the foundations for a NHS Genomic Medicine Service, which will provide equitable access to genomic testing to patients across the NHS from 2019.

Find out more about inherited heart conditions