UCL is part of a three-year project that will sequence 100,000 whole genomes of children and adults with rare genetic diseases.
The project represents a pilot for Genomics England Ltd., a company set up by the Department of Health, to take forward David Cameron’s ‘100,000 Genome Project’.
The project will introduce high-tech DNA mapping for rare diseases patients and those with cancer or infectious diseases and will link that new data to the patient’s medical records. This information will give doctors a new advanced understanding of a patient’s genetic make-up, condition, and treatment needs, ensuring they have access to the right drugs and personalised care quicker than before.
The collaboration is between three BRCs and three Clinical Research Facilities (CRF). Three sites have been chosen to undertake the pilot - UCL, Newcastle and Cambridge. The BRC, partnered with CRFs at UCLH, Moorfields and Great Ormond Street Hospital, are working together to recruit and take blood samples.
With a timescale for set-up of less than three weeks, an overarching operational group was formed with representation from the three CRFs to develop processes and systems for the pilot.
Many Principal Investigators expressed the wish to recruit patients in their routine clinics, so clinics were also set up in GOSH at the weekends and Moorfields and UCLH on weekdays. This was made possible by the set up of a joint, web-based booking database and a dedicated member of staff in each CRF to make appointments.
There are an estimated 7,000 rare diseases and about 3.5 million people in the UK will be affected by a rare disease at some point in their life.
