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The project will sequence 100,000 genomes from around 70,000 people in the UK. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.

13 Genomic Medicine Centres (GMCs) have been established by NHS England. These centres will lead the way in delivering the 100,000 Genomes Project. Nottingham University Hospitals have joined forces with University Hospitals in Leicester, Cambridge and Norwich to run the project in our region. Together, all four hospitals form the regional ‘East of England Genomic Medicine Centre’. The aim is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential of new and more effective treatments. The project will also enable new medical research. Combining genomic sequence data with medical records is a groundbreaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will also be investigated. We also aim to kick-start a UK genomics industry. This is currently the largest national sequencing project of its kind in the world.

The 100,000 Genome Project tests nine innovations across multiple disciplines and disease processes. These areas include:
  1. Mainstreaming
  2. Equality of commissioning of testing and access to testing nationally
  3. Patient eligibility criteria
  4. Informatics for phenotyping
  5. Sample logistics and accreditation
  6.  Gene mapping
  7.  Education of colleagues and engaging new services to consider testing for Mendelian disease
  8.  Acceptance of patients
  9. Clinical utility of findings
For more information contact:
East of England Genomic Medicine Centre: www.eastgenomics.org.uk

Nottingham: This email address is being protected from spambots. You need JavaScript enabled to view it.

Leicester: This email address is being protected from spambots. You need JavaScript enabled to view it.