This Clinical Reference Group (CRG) covers genomics. The Genomics CRG has been convened to support implementation of the NHS Genomic Medicine Service (GMS). Through its professional, patient and public representation, the Genomics CRG carries out the following functions:
- advise on clinical policy and strategy for genomics, including implementation of NHS Long Term Plan commitments and future development of the NHS GMS
- oversee a clear and transparent process for annual review of the National Genomic Test Directory (supported by three test evaluation working groups covering rare and inherited disease, cancer and pharmacogenomics, see below)
- support activities to raise awareness and embedding of genomics across all clinical specialties
- support driving improvements in personalised medicine
- advise on, review and develop guidance and service specifications (including the clinical genetics service specification)
- Chair, Professor Bill Newman, Professor of Translational Genomic Medicine (The Manchester Centre for Genomic Medicine) and Honorary Consultant (Manchester University NHS Foundation Trust)
- Professor Elijah Behr, Clinical Member
- Dr Laura Boyes, Clinical Member
- Professor Rachel Butler, Co-Chair, Genomics Test Evaluation Working Group (Cancer)
- Kevin Capel, Patient and Public Voice Member
- Dr Catherine Cargo, Clinical Member
- Dr Isabelle Delon, Clinical Member
- Dr Angela George, Clinical Member
- Dr Helen Grote, Clinical Member
- Dr Angela Hamblin, Co-Chair, Genomics Test Evaluation Working Group (Cancer)
- Rebecca Harmston, Patient and Public Voice Member
- Dr Jude Hayward, Clinical Member
- Dr Larissa Kerecuk, Co-Chair, Genomics Test Evaluation Working Group (Rare Disease)
- Dr Fiona Lalloo, Clinical Member
- Dr Jacqueline Lindo, Public Health Representative
- Dr Meriel McEntagart, Clinical Member
- Mr John McGrath, Clinical Member
- Dr Kevin Monahan, Clinical Member
- Professor Carlo Palmieri, Clinical Member
- Professor Eamonn Sheridan, Affiliate Member, British Society for Genetic Medicine
- Professor Sarah Smithson, Clinical Member
- Dr Reecha Sofat, Clinical Member
- Professor Robert Taylor, Co-Chair, Genomics Test Evaluation Working Group (Rare Disease)
- Dr Vishakha Tripathi, Clinical Member
- Dr Michael Wright, Clinical Member
- Professor Nicholas Wood, Clinical Member
- Nathalie Percival, Clinical Member
- Catherine Houghton, Affiliate Member – Association of Genetic Nurses and Counsellors
- Sarah Wynn, Patient and Public Voice Member
- Emma Baple, Co-Chair (Interim), Genomics Test Evaluation Working Group (Rare Disease)
A key part of the CRG’s work is the delivery of the ‘products’ of commissioning. These are the tools used by the 10 hub commissioning teams to contract services on an annual basis.
Service specifications are important in clearly defining the standards of care expected from organisations funded by NHS England to provide specialised care. The specifications have been developed by specialised clinicians, commissioners, expert patients and public health representatives to describe both core and developmental service standards. Core standards are those that all funded providers should be able to demonstrate, with developmental standards being those which may require further changes in practice over time to provide excellence in the field.
The following service specifications fall within the scope of this CRG:
- DNA nucleotide excision repair disorders services
- Medical genetics (all ages)
- Stickler syndrome diagnostic service (children)
- Complex Neurofibromatosis Type 1 service (all ages)
- Neurofibromatosis Type 2 service (all ages)
A commissioning policy is a document that defines access to a service for a particular group of patients. A NICE Technology Appraisal Guideline on the same topic will replace, or be incorporated into, a commissioning policy as appropriate. These are important documents that are developed to ensure consistency in access to treatments nationwide.
The following policies fall within the scope of this CRG:
- Genetic testing for BRCA1 and BRCA2 mutations
- Pharmacogenomic testing for DPYD polymorphisms with fluoropyrimidine therapies
National Genomic Test Directory
The National Genomic Test Directory was first published in 2018 and specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test. The contents, structure and format of the National Genomic Test Directory is copyrighted by NHS England and NHS Improvement and therefore the content is owned, controlled and maintained by NHS England and NHS Improvement.
NHS England and NHS Improvement, supported by the Genomics CRG and genomic test evaluation working groups, will review the National Genomic Test Directory on an annual basis following a robust and evidence-based process.
Through this process NHS England and NHS Improvement will continue to consider the potential costs and benefits of expanding or altering the genomic testing which it commissions, ensuring that this testing is available for all patients for whom it would be of clinical benefit. This process will provide stability and clarity for the NHS GMS in implementing genomic testing and will be linked to the appropriate annual funding and commissioning processes.
Test evaluation working groups
To provide clinical and scientific support to the National Genomic Test Directory annual review process, NHS England and NHS Improvement has convened three test evaluation working groups in the following areas;
- rare and inherited disease
Membership of the genomic test evaluation working groups includes scientists, clinicians, health economists, and patient and public representatives. The working groups report into the Genomics CRG.