June 2019

Welcome to the first of our newsletters aimed at keeping you up to date with developments in the new NHS Genomic Medicine Service.

In October last year, as the 100,000 Genomes Project drew to a close, the reconfiguration of genetic and genomic services across England was announced, aimed at delivering a consolidated, enhanced high throughput genetic testing service with equitable access supporting the implementation of personalised medicine.

At that time the London North Genomic Laboratory Hub (GLH) was designated as one of seven GLHs that would deliver genomic testing for the country. Since that time some changes have occurred but progress has been slow and for now the range of genetic tests available and the mechanism for ordering these tests remains as it has been for some years.

Here we give a brief update to keep you abreast with developments.

Who are we?

The GLH is a collaboration of laboratories that currently provide genomic testing for rare and inherited diseases and somatic genomic testing for cancer across the London North geography, which includes parts of Essex and Hertfordshire.

The collaboration is led by Great Ormond Street Hospital (GOSH) and includes labs at Barts Health, University College Hospital and the Royal Free Hospital (and their laboratory HSL), the Royal National Orthopaedic Hospital, Imperial College Hospital (and its lab North West London Pathology) and the Royal Marsden (RMH). Consolidation of rare and inherited disease testing will be on the GOSH site, and somatic cancer testing will, over time, be consolidated at RMH.

Who do we serve?

For now our boundaries remain unchanged, but as the service gets established some Trusts will need to send their genomic testing to a different GLH – this will affect some Trusts in Hertfordshire and Essex who will need to send their genomic testing to Cambridge or Birmingham. We will give everyone plenty of notice before this happens and for now please keep sending testing to the usual places using the usual request forms. Most Trusts will send their rare disease and cancer testing to the same GLH, with the exception of those Trusts in South West London who will continue to send their cancer testing to RMH.

What progress have we made?

Most of our rare and inherited disease testing is now based in the Rare Disease Laboratory hosted by GOSH following the consolidation with the North West Thames Regional Genetics Lab. For somatic cancer it has been decided that the GLH laboratory will be consolidated on the Royal Marsden site, and a gradual move of labs is being planned over the next year or so to avoid any disruption to service. However, as some of you will have noticed, merging labs can have an impact on our service, for example we know that the turnaround times for rare disease testing have increased following the merger of the NW and NE Thames labs at GOSH. We apologise for this, but it is a reflection of the fact that we initially had staff shortages and there was a significant training burden for new staff. We are pleased to say that we are now nearly up to full staffing levels and training is complete, so we hope to shift the backlogs soon and resume a timely and efficient service.

What tests are/will be available?

The tests available currently are those you are all familiar with. As part of the new NHS Genomic Medicine Service (GMS) following consultation with panels of experts, NHSE have constructed a new national genomic test directory for both the rare and inherited diseases and cancer services. The exact timescale for implementation of the test directory is not yet clear, and we are now working to validate any new tests required to be ready for the launch.

Will whole genome sequencing (WGS) be available?

WGS will be part of the new genomic medicine service but we will not be offering this clinically until sometime in autumn 2019. Initially, it will be available for 21 rare disease indications and four cancers (ALL, AML, paediatric cancer and sarcoma). We are in the process of mapping all of these pathways in our geography and will be in touch with relevant healthcare professionals over the coming weeks to give more detail and show you the new ordering system: National Genomic Information Service (NGIS). This system may ultimately be used for ordering all genomic tests, but the rollout will be gradual and will start with those tests going to WGS. The staged rollout will allow us to deliver training gradually to all who need it in a strategic way.

Research in the new Genomic Medicine Service

As part of the new GMS there will be a national data repository or data library developed. All patients having genomic testing will be asked to choose whether or not to allow their data and any excess samples to be stored and available for research, and whether they are happy to be contacted about research opportunities in the future. Patient choice for research, as with NGIS, will be introduced gradually starting with the pathways going to WGS; we will also be offering training for this.

In summary, there is a lot happening to prepare for the changes needed to implement the new GMS but for now the testing available, requesting it and where to send it is largely unchanged. We plan to issue brief newsletters regularly to keep you updated and we would be grateful if you could forward this to colleagues who may be interested. If you have not received this newsletter directly and wish to be added to the circulation list for future bulletins, please let us know by emailing: ldnnorth.glh@nhs.net you can also use this email if you have any questions related to implementation of the GMS, but for any clinical queries please use your usual contacts.

Lyn Chitty, Medical Director, and James Fisher, Chief Operating Officer

London North Genomic Laboratory Hub