Groundbreaking genomes team celebrate two year milestone

The team at Greater Manchester NHS Genomic Medicine Centre, based at Saint Mary's Hospital, recently celebrated their two-year anniversary delivering the pioneering 100,000 Genomes Project, reflecting on achievements so far and future developments for their work on the ground-breaking study.

The national initiative involves collecting and decoding 100,000 human genomes (complete sets of people's genes) from NHS patients with rare inherited conditions and their close relatives, patients with cancer, and patients with certain types of infection. The project has the potential to transform the future of healthcare, improving prediction and prevention of disease, enabling new and more precise diagnostic tests, and allowing personalisation of drugs and other treatments to specific genetic variants.

At the event, Professor Bill Newman, Director of Greater Manchester NHS Genomic Medicine Centre, talked about the project's aims, progress and challenges so far. He said: "We have now recruited almost 1800 patients to the project from the region. This is a tremendous achievement and we are now extending efforts to recruit patients through Salford Royal, University Hospital South Manchester, the Christie and hopefully will be opening the study up at additional hospitals across the region."

Professor Bronwyn Kerr, Consultant in Clinical Genetics and Associate Medical Director, discussed some of the first results received for rare disease participants in the project which have led to a specific diagnosis, and the impact of the findings on them and their families. Talks were also given on the patient involvement and education aspects of the project by Georgina Hall, Consultant Genetic Counsellor; how genetic results are obtained and checked by Dr David Gokhale, Principal Clinical Scientist; and an update on the cancer programme by Jane Rogan, Business Manager at Manchester Cancer Research Centre Biobank.

The project has a number of patient ambassadors, two of whom came along on the day. Georgina Hall highlighted the importance of patients attending these events to hear about the project's progress and participate in discussions as the study progresses.

Lesley Morgan and David McCormick participated in the group workshops along with recruitment nurses and medical students to consider the impact of the project, recruitment and ways to improve engagement with genomics across patients, the public and healthcare.