Groundbreaking genomes team celebrate two year milestone
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
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
Lesley said: "I have a background in medicine which led to my
involvement. It's great to be a part of something making such an
impact and to meet other patient ambassadors at events like
Saint Mary's is one of thirteen centres across the country
leading the way in delivering the NHS England project, a three-year
project will transform diagnosis and treatment for patients with
cancer and rare diseases.
To find out more about the centre's work on the project and
future events taking place, click here.