Advanced diagnostics, genomics and precision medicine

Partner Organisations

  • University Hospitals Birmingham NHS Foundation Trust
  • University of Birmingham
  • 17 other acute trusts in the West Midlands
  • Genomics England Ltd


  • Innovation and adoption
  • Wellness and prevention of illness
  • Education and skills

Date Initiated

21 December 2014

Project Status

Regional rollout

The West Midlands is home to one of 13 Genomics Medicine Centres across the country that will lead the way in delivering the 100,000 Genomes Project.

The initiative involves collecting and decoding 100,000 human genomes – complete sets of people’s genes – that will enable scientists and doctors to understand more about specific conditions. Cancers, along with rare and and infectious diseases, have been chosen because these are the areas where it is anticipated that genomic medicine will offer the strongest prospect of patient and scientific benefits and the ability to drive NHS transformation.

The West Midlands GMC is focusing on the following cancers:

  • breast
  • bowel
  • lung
  • ovarian
  • prostate
  • chronic lymphocytic leukaemia (CLL).

The planned outcomes are: 

  • To transform the diagnosis and treatment for cancers and rare diseases.
  • To prepare our workforce to operate in a transformed health environment for the ultimate benefit of our patients and the population as a whole.
  • To exploit the better sharing of data for research and other purposes.
  • To create jobs for the local economy.
  • To transform hospital specialist service.
  • To initiate world class research. 
  • To accelerate the application of genomic technologies by the widest range of healthcare professionals anywhere in the NHS and enhance accessibility to the 21st century care across the whole region.
  • To improve the prediction and prevention of disease.
  • To enable new and more precise diagnostic tests.
  • To allow personalisation of drugs and other treatments to specific genetic variants.
  • Some participating patients will benefit because a treatment for cancer can be targeted at the particular genetic change that is present in the cancer, but for a number of patients the benefit will be in the improvement in our knowledge of the influence of genetics on disease and how it is expressed in an individual, how other people can be helped with similar diseases in the future, and how different types of tests can be developed to detect changes beyond the genome.

For more information, go to the Genomics England website

Programme Outcomes

The 100,000 Genomes Project is seeking 50,000 genomes from 25,000 patients with cancers across England by 2017. Recruitment of cancer patients began in January 2016. For a cancer patient to participate in the project, the referring clinician, usually an oncologist, will invite the patient to take part.

An independent innovation audit by GE Finnamore in September 2016 found that:

  • All hospital trusts in the West Midlands area share the benefit of being part of the 100,000 Genomes Project as Local Delivery Partners, driving improved standards for patients through the application of learning in one trust across the others, enabling transformational change, supporting the development of the 'prevention' agenda and upskilling in local knowledge on pathology services. The scale of the partnership and the ambition for developing those relationships and delivering associated services is unique in the West Midlands
  • The programme enables each trust to have a capability to deliver genetic diagnostic and treatment services locally, reducing travel from distant parts of the West Midlands and eliminating the 'postcode lottery' of service provision
  • Improvement in quality of ways of working and networking across the region
  • Working across the whole footprint enables the push towards mainstreaming of clinical genetic testing at pace and scale reconfiguration of genetics services by moving towards a model of a regionally owned genomics service
  • The development of the GENIE patient record and sample tracking system to support GMC operations reduces duplicate data entry requirements, links patient records across multiple hospital sites and creates an opportunity for use in other activities, such as research. In addition, GENIE influences the choice of other systems in use across the Local Delivery Partners to ensure full system interoperability across the region. Other GMCs now use the system to underpin their GMC operations
  • Development and adoption of bioinformatics tools supports variant identification, prioritisation and interpretation in routine services, as well as the 100,000 Genomes Project. Although still in development, Phenocap captures deep phenotype information for a genetics test during routine testing, a unique development across GMCs, while GenomeOncology provides a database to support the interpretation of genetic variants in cancer; the way in which WM GMC uses this tool is unique in the UK
  • The core partnership with the local Biobank for sample management builds local capability in cancer sample extraction at sites, allowing the expansion of local provision of clinically relevant genetic laboratory services, and local funding has been invested for outward facing benefit across the whole region, underpinning the development of local capability and network of laboratory sites
  • The three Genomic Ambassadors to support development of the LDPs in the North, Central and South parts of the region, who are funded by the AHSN. The Ambassadors facilitate getting the best out of what local hospitals can offer to their patients regarding genetic testing, support the mainstreaming of genetic testing into routine clinical practice, enabling local pathology departments to work together as a network and increased awareness and interest in local trusts
  • Utilisation of 40 4th year Medical Students to the GMC programme to work on a 12month attachment with specialists, aiding with searches for appropriate patients for recruitment, consenting patients and entering information into GENIE. This scheme offers a wide range of placement opportunities for medical students, supporting curriculum development and genomics education in the clinical workforce, helping future medics work with a wider group of clinical and scientific professionals to develop their skills and spreading awareness of genetics across a wide range of specialisms to students not on the programme through discussion and word-of-mouth
  • Widening participation in specialist genomics education has two distinct but related developments: development and provision of a Genomics Masters Access course and proposed development of an Advanced Clinical Practitioner qualification in genomics (MSc equivalent). The Genomics Access Course was developed in the West Midlands and is now being adopted across the country as the 'gold standard‘ for pre-Masters genomics education, while the Advanced Clinical Practitioner course was proposed by the West Midlands GMC and is being developed by the national team. Activity in this area is developing a wide base to support genetics skills and application across all fields
  • The Patient and Public Engagement Group enables learning to be gained from the consent and recruitment process which should lead to increased numbers going through the project in future. The work demonstrates the GMC’s commitment and focus on quality improvement of its core processes and supports the overall GMC objective of widening participation and inclusion.

Programme Lead

Dr Christopher Parker
t: 0121 371 8061