100,000 Genomes Project in Wales



The 100,000 Genomes Project is active in Wales and we are recruiting participants with eligible rare genetic diseases

The recruitment target of 420 participants was reached on the 14.9.2018.

                                 Recruitment tracker: 420/420


In 2003, scientists from around the world, working together, published the complete genetic information for a human (also called the ‘genome’). For the first time, we had the data from which we could work out what inherited genetic variation contributes to each person being unique. The method to read the genome was called DNA sequencing. DNA is the substance that carries the code that all genetic information is written in, like the letters comprising the text in a manual.

This was also the first step towards understanding why some people were healthy, while others are not. Researchers and doctors all over the world started to use this method to find out why people developed cancers, got infections and what caused certain illnesses to be passed on within the family.

The 100,000 Genomes Project was launched in England in late 2012 with the aim to create a new genomic medicine service for the NHS and to transform the way people are cared for – allowing the development of treatment that is specific for each person. In 2016, as part of the aim to develop the 100,000 Genomes Project into a UK-wide initiative, Genomics England invited the Welsh Government to join the 100,000 Genomes Project.

The All Wales Medical Genetic Service (AWMGS, hosted by the Cardiff & Vale University Health Board) together with Cardiff University, Wales Gene Park and the Welsh Government are working to bring this opportunity for patients within Wales. The 100,000 Genomes Project in Wales will be used as an exemplar towards the integration of genomic medicine into clinical care pathways in Wales and aligns with the Welsh Government Genomics for Precision Medicine Strategy.

Screen Shot 2017-07-24 at 17.10.01To read more about the 100,000 Genomes Project and the work Genomics England is doing please follow the link to their website:


If you would like to find out what taking part involves, please follow this link:


Personal accounts from patients already taking part in the 100,000 Genomes Project in England can be found here:


Currently in Wales, only patients with rare genetic disease have been offered to take part. Genetic counsellors and clinical consultants working at AWMGS have helped to assess eligibility for study participation.


Contact us


If you would like to know more about the Welsh arm of the project, please contact the 100,000 Genomes Project in Wales team (from the right):

Iris Egner, Project Manager

Rhys Vaughan, Recruitment Coordinator, +44 (0) 2921847083

Alice Sadler, data administrator (until December 2018)


Or follow us on twitter: @WalesGMC