100,000 Genomes Project


You may have heard about this project which has been running since 2012.  

What is it?  This project aimed to test the genomes from 100 000 samples of people with rare disease, their families and people with cancer.   

More about genomes Everyone has a genome; it is a complete set of their genetic code.  Everyone’s genome is slightly different and looking at these differences can help to understand why disease or cancer happens.  


Genetic code is made of the chemical DNA.  Most of it is coiled together in structures call chromosomes which we inherit from our parents. Almost all the cells in our body have a complete set of our chromosomes but it is usually easiest to test genomes by giving a small sample of blood.  Every living thing has a genome so that includes people, animals, insects and plants – even bacteria and viruses!



https://www.genomicsengland.co.uk/information-for-participants/how-we-analyse-a-genome/ this link also has a youtube link for an animation about searching genomes for results/answers https://youtu.be/m1k91ynqFIU  

Who took part? NHS patients with rare disease, their families or people with cancer were invited to take part on the project.  There were detailed rules about exactly who could and could not take part, called ‘eligibility criteria’; this is normal for any study.  The project was run by Genomics England.

When did it happen?  The project started in 2012 and the sequencing of 100,000 genomes was finished in December 2018. 

LINK for news announcement https://www.genomicsengland.co.uk/the-uk-has-sequenced-100000-whole-genomes-in-the-nhs/ 

Many people have now received results.  Those who are still waiting for their results should be contacted by their doctors in 2019.  It can take a long time for the scientists to read and find helpful information in a genome.  This is why results are not ready as soon as the sequencing has finished. 

 LINK for details of why this is https://www.genomicsengland.co.uk/information-for-participants/results-the-journey/ )

Why did the project run? There were lots of aims for this project including:

  • more understanding of the differences we have in our genetic code 

  • improving making diagnoses leading to better care and personalised treatment in the future

  • helping to make genomic testing part of the NHS

  • improving the technology needed to do genomic testing  

  • helping the position of the UK in this area

Where did it happen? 13 Genomic Medicine Centres were set up by NHS England to deliver the 100k genomes project.  

A map of the NHS Genomic Centres is here https://www.england.nhs.uk/app/uploads/2017/01/nhs-gmcs-map-jan-2017.pdf  or https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/genomic-medicine-centres/#gmcmap 

Most NHS Genomic Medicine Centres have their own websites too, a list is here https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/genomic-medicine-centres/

East of England NHS Genomic Medicine Centre http://eastgenomics.org.uk/

Manchester Centre for Genomic Medicine https://www.mangen.co.uk/

Merseyside and Cheshire genetics service https://www.liverpoolwomens.nhs.uk/our-services/genetics/

North East and North Cumbria NHS Genomic Medicine Centre http://www.newcastle-hospitals.org.uk/services/NENC-GMC.aspx  

North Thames NHS Genomic Medicine Centre http://www.ntgmc.nhs.uk/

Northwest Coast NHS Genomic Medicine Centre http://www.nwcgmc.org

Oxford NHS Genomic Medicine Centre https://www.ouh.nhs.uk/OxfordGMC/

South London NHS Genomic Medicine Centre https://southlondongmc.nhs.uk/

South West NHS Genomic Medicine Centre (website link not working in June 2019)

Wessex NHS Genomic Medicine Centre http://www.uhs.nhs.uk/Research/100,000genomesproject/WessexNHSGenomicMedicineCentre.aspx

West of England NHS Genomic Medicine Centre http://www.wegmc.org/

West Midlands Genomic Medicine Centre https://www.westmidsgmc.nhs.uk/

West London NHS Genomic Medicine Centre https://www.chelwest.nhs.uk/about-us/research-development/west-london-genomic-medicine-centre

Yorkshire and Humber Genomic Medicine Centre http://www.yorkshirehumbergmc.nhs.uk/

What next? 

If you are part of this study and want more information there are answers to frequently asked questions on this page https://www.genomicsengland.co.uk/information-for-participants/participants-faqs/ 

Some people took part in the study but did not receive a diagnosis (had a ‘negative result’).  As technology moves on and more is understood about the genome your sample may be looked at again and it may lead to a different result.    

In October 2018 the Health and Social secretary announced the plan to sequence 5 million genomes over the next 5 years. Read more about this here https://www.gov.uk/government/news/matt-hancock-announces-ambition-to-map-5-million-genomes

Want to find out more?