Dr Sarju Mehta, Cambridge University Hospitals:
“As an NHS clinician, having the latest tools for diagnosis is vital and ultimately leads to better management of patients and the prospect of personalised medicine…if we are able to translate this technology into the clinic, then this has to be good for patients. I hope by highlighting patients (which is a relatively simple process), at least some will get a diagnosis.” (Link to video Dr Sarju Mehta)
The 100,000 Genomes Project is a transformative project using genomic medicine to change how NHS patients are treated. It’s also a new way for caring for patients, laying the foundation for a more personalized approach to medicine [link to pdf “improving outcomes”].
To sequence 100,000 genomes over four years is ambitious and has never been done on this scale anywhere in the world before. Healthcare professionals play a vital role in recruiting patients with rare diseases and cancer to the project, and including the projects’ results into their care.
The East of England Genomic Medicine Centre has been set up to deliver the project to patients and families with cancer and rare diseases who are being cared for by the NHS across East Anglia and the East Midlands.
We aim to recruit around 9,000 volunteers as our contribution to the national target. Please help to identify and recruit suitable patients. You will need to:
- confirm that your patients with rare diseases are eligible, using the eligibility criteria
- refer them to your local East of England GMC hospital (Nottingham, Leicester, Norwich or Cambridge)
- for patients with cancer, please get in touch with your local GMC hospital first
- agree to complete the patients’ clinical details within six weeks of their providing a blood sample (you will also need to fill in a phenotyping form specific to each patient’s disease)
- feedback results to the families when they become available, and refer families on for specialist care, where appropriate.
If you want to know how the project started just click on the link to the 100,000 Project.