22 Dec 2014

How the genomes project could help you

Participants in the 100,000 Genomes Project will share genetic codes and medical records with drugs companies and researchers in the hope of finding effective treatments for cancer and rare diseases.

Eleven genomic medicine centres (GMC) are the heart of the project, a plan to map 100,000 complete genetic codes of patients. The human genome consists of more than three billion chemical units or “base pairs” that make up the letters of the genetic code – abbreviated to A, T, C, and G. The way the letters pair up on both sides of the double-helix DNA molecule shapes the genome sequence. Mistakes in the pairing can lead to disease.

Targeted treatments

The project is needed to treat illnesses such as cancer, which can take a variety of forms – breast cancer, for example, has at least 10 – each requiring a different treatment. In the case of breast cancers, more than 70 per cent respond to hormone therapies, but their reaction to the treatment is very varied. The new research centres will create personalised treatment that can be targeted more effectively at each variation of cancer.

The participants in the project will agree to share their genetic code and medical records with drugs companies and researchers. Their DNA will then be examined in order to compare the genetic code of their healthy tissue to the genetic code of their tumour.

It should then be easier to spot the mutations in DNA that are causing the tumour, and so create a more precisely targeted treatment.

Some 15,000 patients with rare diseases will have their genome compared with those of close relatives in order to spot the mutations.

Multi-million pound initiative

Ultimately the aim is to secure the participation of more than 100 NHS trusts over the project’s three-year lifespan. Scientists and doctors hope the £300m initiative will transform medicine by uncovering DNA data that can be used to develop personalised diagnostic procedures and drugs.

More than 100 patients with cancer and rare inherited diseases have already had their genomes sequenced during the project’s pilot phase.The first wave of GMCs will be linked to NHS trusts in 11 locations covering London, Manchester, Oxford, Birmingham, Cambridge, Southampton, Exeter and Newcastle.

Drugs company access vital

Professor Mark Caulfield, chief scientist at Genomics England, the Department of Health company set up to deliver the project, strongly defended the decision to let drug companies have access to the data.

“It is absolutely vital if you want to develop maximum benefit from this project that we encourage industry to join us in this,” he said. “There’s no university in the land that can develop a medicine on its own.”

But he pointed out that drug companies would be restricted to using the facility like a reading library. They would be able to work with data, but not take it away.

A US company, Illumina, will carry out the actual sequencing using technology invented by scientists at Cambridge University.