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, they could read the instruction manual that made this person unique: their eye sight, skin colour, gender, the ability to drink milk or digest alcohol, the talent to sing or draw. The method to do this was called DNA sequencing. DNA is the code that all genetic information is written in, like the letters 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.
If you 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 are able to take part. Genetic counsellors and doctors working at AWMGS will assess eligibility for study participation. To find out whether you could take part please contact your genetic counsellor or doctor. If you are not an AWMGS patient please ask you GP to refer you to AWMGS.
If you would like to know more about the project and how it will be run in Wales, please contact the 100,000 Genomes Project in Wales team:
Rhys Vaughan, recruitment coordinator, +44 (0) 2921847083
Gabriela Juma, recruitment coordinator (Tuesday, Wednesday morning, Thursday), +44(0) 2921841712
Iris Egner, project manager