100,000 Genomes Project in Wales

The Welsh 100,000 Genomes Project Recruitment team received the Cardiff University Medic STAR research team award in April 2019 for excellence in research.




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 to patients in 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 17.10.01Read read more about the 100,000 Genomes Project and the work of Genomics England here

Taking part

                                 Recruitment tracker: 439/439

(30 September 2018)


The recruitment target of 420 participants was met in September 2018, after a recruitment period of 8 month. Additional 19 participants were recruited in the last recruitment week after NHS Wales provided further funding.

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

In Wales, only patients with rare genetic diseases were recruited into the Welsh arm of the project. 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 Wales’s involvement in the 100,000 Genomes Project please contact the project team:

Project team in Wales (T to B): 1. picture: Rhys Vaughan (Recruitment Coordinator), Alice Sadler (Data Administrator, June -Dec 2019), Iris Egner (Project Manager); 2 picture: Gabriel Juma (Recruitment Coordinator, Sept 2018-June 2019), Iris Egner ; 3 picture:  Oliver Denton (summer student 2018)


Phone: +44 (0) 2921 847083

Email: 100k.Genomeproject@wales.nhs.uk

Twitter: @WalesGMC