Virtual Patient Choice Working Group
Last Reviewed 16/08/2019
By Tom Billins
Recently I have been attending the NHS England and Genomics England virtual patient choice working group. The group meets online to help inform the preparations for the NHS Genomic Medicine Service (GMS) and is made up of: scientists, clinicians and genetic counsellors from the NHS Genomic Medicine Centres (GMCs) and Genomic Laboratory Hubs; patient and patient group representatives; and Genomics England and NHS England staff.
The working group has been divided into three streams: documentation, workforce and implementation. The documentation stream has been looking at all the patient-facing information and forms, the workforce stream has a focus on training staff in preparation for the GMS, and the implementation stream, which I have been assigned to, has been looking at how the NHS GMS will be delivered on the ground.
The group has provided important feedback on the development of the NHS GMS’ patient facing material. This includes website based information on genomic testing and what happens to patient data, leaflets detailing the purpose of having a genomic test and what to expect from the results, and a research FAQ which is a resource for all information related to research. NHS England have tested the material more widely too, including with Rare Disease UK’s Patient Empowerment Group.
Genomics England, in the planning of the NHS GMS, have been responsible for the research offer. Patients if they wish can agree to share their genomic data with approved academic researchers and companies in a research database they are calling the National Genomic Research Library (NGRL). The NGRL will be based on the reading library model used as part of the 100,000 Genomes Project, allowing approved users to access and scrutinise the anonymised data in the digital research environment but not to download or copy it.
Also presented for comment to the group has been the patient choice form which asks whether a patient opts to include their genomic data in the NGRL and whether the patient agrees to have a genomic test. NHS England have been responsible for drafting the clinical question and information around having the test and Genomics England have been responsible for the research question and the associated information about research.
Any written research material has to be given approval by a Health Research Authority-governed Research Ethics Committee (REC) before being released for use. Genomics England has recently submitted the latest versions of research material to, and received approval from, the REC. Given the evolutionary nature of the NHS GMC development, the research materials, including the research-related section of the record of discussion form, are likely to change in the future. Should the research materials change, they will again need approval from the REC before being released for use.
Currently being tested is the digital platform for the NHS GMS which is called the National Genomics Informatics System (NGIS). NGIS will allow: clinicians to select which test they want to order; patients to register and record their choice; and a number of other functions that will help to make the NHS GMS run effectively. Testing of NGIS is at alpha stage at the moment, meaning they are testing the paper forms and some of the modules with a small group of people. The beta phase, upcoming in August, will expand on this with larger groups of people testing the modules and paper forms, followed by the user acceptance testing (UAT) phase, which will test the NHS GMS data and sample pathways using commercially purchased genomes. These testing phases have been pushed back before and given the existing patient need it is urgent that NHS England stick to the proposed timelines.
NGIS will only go live when the testing phases have been completed and when NHS England can be assured of the implementation of a clinical safe service. What this means in practise is that actual patient data and samples will flow through the GMS pipeline. This phased clinical implementation stage will see patients identified for whole genome sequencing and their test results returned to them. To avoid overloading the service, test orders will be gradually increased overtime until whole genome sequencing is established as routine clinical practice. Again, it is important to stress that the rollout of the NHS GMS has already been delayed and it is a matter of some urgency that NHS England and Genomics England stick to their proposed timelines.
We feel that the potential for the NHS GMS to benefit patients is huge and that it is important to get right. Its rollout needs no further delay and must deliver a service that functions for its users. If the NHS GMS follows the successes of the 100,000 Genomes Project it will mean more people receiving diagnoses for the first time, research that facilitates more drugs being developed designed for specific rare and genetic disease, and improved patient care.