North Thames recruitment to 100,000 genome project exceptionally strong for rare diseases

The North Thames Genomic Medicine Centre’s (GMC) has recruited 5,200 genomes to the 100,000 Genomes project for rare diseases, making up around 28% of those recruited nationally.

The North Thames GMC has recruited more than twice the number of rare disease patients compared to the next most active GMC. Great Ormond Street Hospital (GOSH) has recruited roughly 1,800 participants and is on course to meet their target of 2,640 by Spring 2017. However, as national recruitment is slow, the programme is being extended until the end of 2018 and GOSH may be asked to continue recruiting.

Results from the pilot project are now being returned to the regional labs, and validation and feedback to patients is currently underway. Sequencing of patient samples from the main programme is also continuing, and staff at GOSH are entering the participants' phenotypic data. The team encourages all referring clinicians to help with this. Please contact the 100,000 Genomes team if you have any queries (Jay Wataranan).

Recruitment to the cancer programme remains challenging, however new pathways are opening at GOSH, Homerton University Hospital, the Royal Free and the Royal National Orthopaedic Hospital, which we hope will improve recruitment.