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 a 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 Genetics Service (AWMGS, hosted by the Cardiff & Vale University Health Board) worked together with Cardiff University, Wales Gene Park and the Welsh Government to offer Welsh patients the opportunity of whole genomes sequencing (WGS), a technique that allows looking a the whole genome (all of the DNA) of a person. 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.
To read more about the 100,000 Genomes Project and the work of Genomics England please click here
In Wales, only patients with rare genetic diseases are eligible to take part in the project, which is now closed. Genetic Counsellors and Clinical Consultants working at AWMGS will be able to to provide further information about eligibility criteria for WGS.
If you would like to know more about Wales’s involvement in the 100,000 Genomes Project and WGS, please contact the Institute of Medical Genetics reception (IMG):
Phone Nr IMG reception: +44 (0) 2920748330