NEW YORK (GenomeWeb) – The National Health Service England said this week that it is seeking comment from stakeholders on a proposed redesign of genomic laboratory services in England.
"The proposals aim to deliver services across England which can better meet advances in genomic technologies, whilst driving improvements in quality and patient outcomes," according to NHS England.
The recommended changes, which are detailed in a document posted on NHS England's website, call for the creation of Genomics Central Laboratory Hubs (GCHLs), which would work with clinical genetic services and other clinical specialties to deliver services across England. In addition, Genomics Local Laboratory Hubs (GLLHs) would provide rapid testing for patient care that involves genomic technologies.
The proposal builds on recommendations from a 2012 report by the Human Genomics Strategy Group, "Building on our Inheritance; Genomic Technology in Healthcare," that "recognized the need to consolidate existing resources in order to deliver genetic laboratory services for the future," according to the document.
It also takes into account the work of the UK's ongoing 100,000 Genomes Project, which is exploring how to deliver genomic medicine within the NHS. Genomics England is currently contracting for sequencing to support the project, which "will potentially provide an accessible resource for [whole-genome sequencing] for diagnostic discovery for NHS patients," the document states.
Last month, NHS England named 11 Genomic Medicine Centres to lead the project, after selecting Illumina as a preferred partner for sequencing services last summer.
The planned GCHLs will provide routine diagnostic clinical sequencing and complex genome analyses, supporting "the full range of molecular and cytogenetic technologies as well as the validation and clinical interpretation of genomic data at the level of the whole genome," according to the proposal.
The centers will provide testing for patients with rare inherited disorders, sporadic genetic disorders, and cancer, as well as genomic profiling for personalized medicine. Also included will be noninvasive prenatal testing. They will interpret variants from whole-genome or exome sequencing, develop quality standards for genomic data used for clinical diagnostics, and validate new genomic diagnostic tests and technologies.
The hubs would cover the population of England, about 54 million in total, with each GCLH serving a "significant geographical area."
The formation of the GCHLs would result "in the consolidation of existing specialist genetic laboratories into state-of-the-art, high-throughput laboratories for the NHS."
The GCHLs will be aligned with existing biomedical research and health science centers or will be linked with centers "of internationally recognized academic excellence in genomics and translational medicine."
Some of the GCHLs "will undertake highly specialized testing on behalf of NHS England and possibly the UK" on the basis of their expertise, and not all of them will provide all types of testing.
All GCHLs will be part of a group of central laboratories that will make up the NHS Genomics Laboratory Service.
GLLHs will emerge from existing molecular pathology laboratories and will provide "rapid testing for clinical utility across a broad range of pathology specialties" and other clinical specialties, as well as in areas where results from different tests for a patient need to be combined. GLLHs would work closely and share expertise and technology with GCLHs.
Several testing services will not fall under the purview of the new genomic laboratories. These include infectious disease sequencing, which will continue to be provided by Public Health England, which is developing its own genomic strategy; tissue typing, which will still be provided by Specialized Blood Transfusion and Transplantation Services; histopathology and cytopathology not using genomic technologies; newborn screening; biochemical and other antenatal screening except noninvasive prenatal testing; and immunological tests that are not for single-gene disorders.
The 12-week consultation period on the proposal runs from January 14 until April 14 and targets those likely to be affected by the changes, though anyone is invited to respond.