E01. Medical Genetics


This Clinical Reference Group (CRG) covers medical genetics. Diseases with a genetic component are estimated to affect at least 5–6% of the population.

Medical genetics is divided into two main service areas and both cover children and adults:

  • Clinical genetics has a key role in the diagnosis and management of multisystem genetic disorders
  • Laboratory genetics services provide molecular and/or cytogenetic testing. This covers diagnostic testing, carrier testing, prenatal and pre-symptomatic testing for a range of conditions.


Recruitment to this CRG is in progress and the names of the chair and members will be updated shortly.


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

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:


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:

National Genomic Test Directory 2018/19 – final draft

From October 2018 the National Genomic Test Directory will specify 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 final draft 2018/2019 National Genomic Test Directory can be accessed using the links below. The contents, structure and format of the National Genomic Test Directory is copyrighted by NHS England and therefore the content is owned, controlled and maintained by NHS England. The National Genomic Test Directory may only be amended pursuant to a robust and evidence based process conducted and approved by NHS England.