The 100,000 Genomes Project, launched in 2013, aimed to sequence 100,000 genomes from people with rare conditions, such as ataxia, or cancer. Sequencing the whole genome of people with rare conditions can help to identify genes that cause conditions such as ataxia. Since 2013, the 100,000 Genomes Project has contributed to ground-breaking discoveries and continues to improve our understanding of genes in health and disease. It paved the way for the NHS Genomic Medicine Service, making the NHS the first national healthcare system to offer whole genome sequencing as part of routine care.
If you took part in the 100,000 Genomes Project, you might be interested in a webinar recently hosted by Genomics England. In this webinar, they explain the achievements of the project, and the ongoing work to find diagnoses for families involved. If you took part and you didn’t receive a diagnosis, this webinar and blog explains the ways in which you might receive a diagnosis in the future, as the project makes more discoveries about genetic conditions.