The 100,000 Genomes Project

About the 100,000 Genomes Project

The project aims to sequence 100,000 whole genomes from about 70,000 people.  Participants are NHS patients with certain types of cancer and patients with rare diseases plus their families.

With their consent their genomes will be sequenced and linked to details about an individual’s medical condition.  Doing this may help medical teams provide better diagnosis or treatment.  But it may not, because not enough is known yet about the meaning of all the genomic data.  Read more about the results and main findings here.

By adding key information from medical records too and putting all the data in one highly secure place,  scientists can compare the data from tens, hundreds or even thousands of people with the same condition.  Allowing approved scientists to have monitored access to this data is a very powerful way to understand the causes of ill health and how to treat it.

What is a Genome?

Your genome is one whole set of your genes, plus all the DNA between your genes.  There’s a copy in almost every cell of your body and it’s the instructions for making, running and repairing you.

Genes account for less than 5% of your genome.  It used to be thought that the rest of the DNA was junk but now we know all of your genome is important.  That’s why we’re doing whole genome sequencing.

Sequencing means reading all the 3 billion DNA letters in your genome one by one.  And now we know. Every letter counts.

Aims of the Project

Improving care for patients:  Some patients with rare disease may get a diagnosis for the first time or discover what treatment might work best.

Setting up an NHS genomic medicine service: By the time it finishes, this project will have put everything in place to enable the NHS to offer genomic medicine to those patients who need it.  Genomic medicine will mean personalised treatment for patients.

For future generations: By looking at all the 100,000 Genomes Project data, scientists will gain new insights and understanding about the cause of disease and fine better ways of helping patients, especially those who have conditions that are currently hard to treat.

To kickstart a UK genomics industry: Participants generously agree that researchers from industry such as pharmaceutical companies can look at their data.  This is the best and quickest way to ensure that understanding from the project is turned into new medicines and diagnostics for patients.  It will also help establish new jobs and companies in this important field in the UK.

Who is involved?

The project is being run by Genomics England, a company wholly owned by the Department of Health.  Genomics England is working together with NHS England, Health Education England and Public Health England to deliver the 100,000 Genomes Project.  NHS Genomic Medicine Centres (GMCs) have been set up across the country to recruit patients, take the samples and provide medical information on the project.

Who is eligible?

At the moment, patients with certain inherited rare diseases plus their families, and some common cancers may be able to take part.  Patients will be invited to take part by their hospital doctor. At the moment only people under the care of the NHS in England can join. Those in Scotland, Wales and Northern Ireland will be able to take part soon. Taking part does not affect routine NHS care.

The Inherited Metabolic Disorders currently included within the project are:

  • Ketotic hypoglycaemia
  • Live Lactic acidosis
  • Cerebral folate deficiency
  • Undiagnosed metabolic disorders
  • Congential disorders of glycosylation
  • Hyperammonaemia
  • Mucopolysaccharideosis
  • Gaucher
  • Fabry
  • Mitochondrial disorders
  • Peroxisomal biogenesis disorders
  • Other peroxisomal disorders

Patients should be referred to their local GMC by the clinical geneticist or hospital consultant.  If you have not been referred, and think that you are eligible, please ask your metabolic consultant if you can be referred.  The project is in the early stages.  In the future, it is possible that patients with other conditions, and those in other parts of the country will be able to take part too.

If you would like to know more about the 100,000 Genomes Project, please call their information line on 0800 389 8221 (9am to 5pm Monday to Friday). Please note the information line can’t tell you if you are eligible to take part, or give individual medical advice.