100,000 Genomes Project hits halfway milestone

An NHS research project to uncover the genetic causes of cancers and rare diseases has reached the halfway mark.

Since the project began in 2012, 40,000 people have had their complete genetic code – or genome – read.  As each person gives two samples, the project has now hit 50,000 of its target 100,000 genomes read.

Sir Harpal Kumar, Cancer Research UK’s chief executive, said the significant milestone highlights the great progress being made in genetic research and the pursuit of personalised medicine in the UK.

The 100,000 Genomes Project aims to read the genomes of patients with rare diseases and cancer, with the goal of speeding up diagnosis and creating personalised treatment plans.

What is a genome, and why do they matter?

A genome is the complete library of DNA found inside cells. It includes the genes that carry instructions to make an organism.

In people this includes more than 20,000 genes.

Many diseases, including cancer, develop due to faults in DNA.

By cataloguing and understanding these faults, the data could be used to diagnose patients or find new treatments. 

The project has mapped 8,000 cancer genomes, and the rest for patients with rare diseases and their family members. 

Kumar said every patient who has their DNA read brings us a step closer to providing personalised cancer treatments and successfully tackling the disease.

“As we continue to increase our understanding and application of genomics in cancer research and care, we need the Government to ensure that patients have access to the latest tests and treatments through the NHS,” said Kumar. “This is essential if we are to save more lives from this devastating disease.”

Professor Sue Hill OBE, senior responsible officer for Genomics at NHS England, said the milestone shows how healthcare professionals from across the NHS have come together to demonstrate how this technology can be used as part of routine care to improve patient lives.

By the end of the project around 70,000 people will have had their genomes mapped. The aim is to complete this by the end of the year. 

“We are on track to complete recruitment to the project this Autumn and, from then, the use of these cutting-edge genomic technologies will be embedded in the NHS through the new Genomic Medicine Service offering real benefits to patients and healthcare delivery,” said Hill.