Plans for new NHS Genomic Laboratory Services

15 January 2015

NHS England is consulting on plans for a complete reconfiguration of NHS genetic laboratory services in England, based on consolidation of resources and new approaches to underpin genomic analyses.

The intention is to support the creation of ‘a world class resource in the use of genomics and genetic technologies within the NHS’, building on the 100,000 Genomes Project to ensure that genomic medicine is thoroughly embedded within and across the NHS for better, more personalised disease prevention, diagnosis and treatment.

The proposed new service specification is based on recommendations from the 2012 Human Genomics Strategy Group (HGSG) report Building on our Inheritance; Genomic technology in healthcare, notably consolidation of existing laboratory provision and integration of new elements to deliver genomic analyses. This includes not only rapid genomic sequencing but also appropriate bioinformatics tools for prompt data processing, interrogation, validation and clinical interpretation and communication of findings, as well as data-sharing to support ongoing development of clinical genomic knowledge.

The reconfiguration is intended to create a virtual national network linking molecular pathology laboratories with specialist genomic centres to deliver suitable provision of genetic, genomic and molecular pathology testing that builds on the 100,000 Genomes Project. Specific aims include:

  • Equitable access to services of a consistent standard from across the NHS
  • Rapid implementation and optimisation of emerging technologies and techniques to reduce costs and improve outcomes
  • Maximisation of specialist expertise and development of specialist training centres
  • Ongoing quality improvements through collation and sharing of data
  • Support for research including collaboration with industry and academia
  • Provision of a comprehensive service and network for rare and inherited disorders

To achieve this, NHS England is proposing a switch from the old model of provision of all genetics services via laboratories tied to specialist clinical genetics services, to a new and broader, tiered model comprising:

  1. Genomics England Sequencing Centre (GESC) – providing basic genomic sequencing services and a resource for ‘diagnostic discovery for NHS patients’. Though not part of the NHS service, the resource is also intended to underpin wider biomedical research and income generation for the NHS.
  2. Genomics Central Laboratory Hubs (GCLH) – a strategic network of laboratories providing routine diagnostic clinical services for rare and inherited disorders, cancer and other acquired disorders including for stratified or personalised medicine. This will involve molecular and cytogenetic technologies as well as complex genome analysis via the validation and clinical interpretation of whole genome data. The GCLHs will be aligned to Biomedical Research Centres, Academic Health Science Centres and Networks (AHSNs) or other ‘centres of internationally recognised academic excellence in genomics and translational medicine’. Not all GCLHs will undertake all tests, allowing some ongoing specialisation in specific disease areas as currently exists in different regional genetics laboratories.
  3. Genomics Local Laboratory Hubs (GLLH) – formed from existing molecular pathology laboratories and focused on local provision of different forms of testing, as well as combining the results of different tests for integrated diagnostic reporting and patient management.

NHS Genomic Laboratory Services will specifically exclude infectious disease genomic services, which will remain within the remit of Public Health England and their own Genomic Strategy, when available. Similarly, tissue typing will remain within Blood Transfusion and Transplantation Services and non-genomic histopathology and cytopathology with current histological examination. Antenatal and newborn screening are also excluded, with the proviso that non-invasive prenatal testing will fall within NHS Genomic Laboratory Services.

The consultation is open for comment until 14th April 2015. NHS England’s Chief Scientific Officer Professor Sue Hill said feedback “will be critical in ensuring that the NHS can procure the right high quality services to enable the genomic revolution to improve the prediction, prevention, precision diagnosis and personalised treatment for now and for future generations".