Introduction

Genomic testing provides a wide range of benefits to patients from providing information on disease risk to tailoring treatments to an individual.

The UK’s rich genomics ecosystem, which includes government, regulators, funding and research bodies, industry, charities and patient groups, is a strength but can be navigationally challenging for stakeholders, particularly when seeking to introduce innovation in the NHS.

This document sets out the joint genomic testing pathway that NHS England and the National Institute for Health and Care Excellence (NICE) have agreed to follow to identify, prioritise and assess new genomic technologies, before they are considered for commissioning by the NHS in England.

By aligning priorities and processes between the organisations, it guides stakeholders on how to introduce a genomic test into the NHS and creates a streamlined model of assessment that supports the rapid, safe adoption of innovation in genomics into the NHS.

The aim of this pathway is to improve outcomes for patients, provide greater clarity for innovators, patients and practitioners, and ensure value for money for taxpayers and the NHS.

Our partnership will align priorities, facilitate wider adoption and continue to drive the evolution of the genomics ecosystem to benefit patients, the NHS and the life sciences industry.

The organisations’ evaluation processes remain separate but complementary. NICE will continue to focus on testing that is likely to have a significant impact on NHS resources, pathways and services (the NICE evaluation routes) and NHS England will evaluate all genomic tests before making a decision on whether a test will be commissioned nationally in England (the Test Evaluation route).

Once a decision has been made to commission testing nationally, it will be added to the National Genomic Test Directory and delivered by the NHS Genomic Medicine Service (GMS), which is commissioned nationally by NHS England.

The closer partnership between NHS England and NICE through this joint pathway manifests a commitment to work together to resolve challenges in implementing innovative tests, particularly those that disrupt current pathways to care or require changes to infrastructure.

NHS England and NICE will continue to work in partnership as genomic medicine advances and this pathway evolves.

Guiding principles

The 8 principles guiding the NHS England and NICE genomic testing pathway are:

1. NHS England and NICE will ensure horizon scanning information on genomic medicine-related topics is shared and discussed quarterly.
2. If testing is recommended by either the NHS England Test Evaluation or NICE evaluation routes and is going to be delivered by the NHS GMS, the National Genomic Test Directory impact assessment process needs to be completed. The Test Directory is updated following the structured, evidence-based process described in the NHS England policy document: Updating the National Genomic Test Directory.
3. NICE evaluates genomic tests that meet NHS and patient need independently of NHS England commissioning priorities, but will notify the NHS GMS when these arise so that early commissioning responsibility and service delivery discussions can commence.
4. If genomic testing is likely to have significant impact on NHS resources and services, then a NICE evaluation may be required. For example, when genomic testing is for a large clinical cohort or there is a significant downstream impact on the clinical pathway (for example, risk stratification, pharmacogenomic profiling).
5. Relevant costs for new or expanded genomic testing that is required to inform the use of a specific medicine should be included in NICE evaluations. The approach to determining relevant costs for genomic testing will be consistent across NICE.
6. NHS England will ensure indicated genomic testing is available to enable access to medicines recommended by NICE Technology Appraisals (TAs) and Highly Specialised Technology (HST) guidance.
7. Genomic testing recommended in NICE clinical guidelines or HealthTech guidance will be taken forward for consideration of national commissioning by NHS England. Equally, NICE guidelines and pathways will consider relevant, indicated tests approved and commissioned by NHS England.
8. The NHS GMS infrastructure will support evidence generation for NICE Early Value Assessment conditional recommendations (tests that can be used while evidence is generated).

The objectives each principle is designed to achieve are described below.

By having a common view of the pipeline, NHS England and NICE can align priorities to streamline evaluation of upcoming genomic tests so that patients have access to these as quickly as possible.

The objectives are:

• ensure early engagement before selection to identify key challenges in upcoming topics and mutually agree which tests should be appraised and by whom, while also ensuring alignment with the 8 principles of the genomic testing pathway
• enable improved forecasting and scheduling of the topic pipeline for the coming year, aligned to wider system priorities, including where testing is required for a recommended medicine’s licence
• enable NHS England referral of priority topics to be raised at the NICE Prioritisation Board
• ensure that newly commissioned genomic tests affecting existing guidelines are promptly reviewed for prioritisation

Anyone can submit an application to update the Test Directory as long as they provide appropriate clinical and scientific evidence for the need to, for example, consider new test targets, clinical indications or changes to existing tests in the Test Directory.

The evaluation of applications includes an assessment of the strength of the data for clinical utility, scientific validity and unmet need and benefit to patients.

Clinical and scientific experts and patient and public voice representatives support the overall process.

If an application is approved, further assessments then consider the impact of implementation and delivery across the NHS in England, notably on the 7 NHS genomic laboratory hubs (GLHs), which are responsible for delivering the testing listed in the Test Directory across England, including that of the technical specification, local implementation and alignment with commissioning priorities.

This ensures that NHS England and the NHS GMS have the information needed to plan for implementation and prioritise this alongside other aspects of the service.

In addition, the NHS GMS will provide timely information on implementation to NICE to inform its evaluation, decision-making or support tools, where relevant. This enables timely access to genomically- informed medicines in line with funding requirements and medicine licensing.

This principle aligns with the principles on who may conduct evidence and cost-effectiveness reviews; that is, even if completed by NICE, the impact assessment for the NHS GMS must be completed to enable commissioning and implementation decisions to be made.

NICE evaluates new health technologies for NHS use, considering clinical effectiveness and value for money, and provides guidance to health and care practitioners on delivering best care.

Where there is inequality or an opportunity to improve care, stakeholders can inform NICE of topics for evaluation. For example, the Royal College of General Practitioners asked NICE to review the age cut-off for Lynch syndrome testing in people with colorectal cancer. This role is a core principle of NICE.

To support this, early discussions for innovative interventions are needed to understand potential commissioning and delivery routes.

NICE is committed to informing NHS England of its genomic test-related guidance as early as possible to enable scoping work for costs and implementation, including enablers and barriers. 

This principle also considers the different needs and timing requirements of statutory requirements for certain NICE guidance – such as for medicines, as well as broader advisory guidance.

NHS England uses expert working groups and NHS GMS input to evaluate the impact of new tests on laboratories.

Its qualitative assessment of the downstream impact of new testing includes consideration of referral within patient pathways, alternative medicine use (such as high cost and off-label) and high workforce training requirements to enable delivery (such as if in a mainstream setting).

Testing indicated for large numbers of people requires a detailed impact assessment that considers the need for extra infrastructure or scaling up of testing capacity.

For testing that could have considerable impact on the NHS or patients, NICE’s quantitative evaluation of the downstream impact is valuable in ensuring clinical effectiveness and value for money, supporting business cases and aiding implementation.

Examples of what could be in scope: triage testing, certain tests for diagnosis and detection at large scale, pharmacogenomics and tests for targeted therapies, polygenic risk scores (if evidence collected through the Our Future Health programme supports adoption).

Examples of what could be out of scope: national proactive population screening, testing that results in non-clinical downstream pathways, such as provision of education support tools.

Downstream impact can be significant in many ways that need to be considered by NHS England, the wider system or both.

The Test Directory details genomic testing available via the NHS GMS.

Some testing related to genetics may be available within other parts of the NHS testing infrastructure and where applications may overlap with existing pathways or services this will be considered before full review.

NICE reviews medicines across a range of conditions that may require genomic testing.

Its guidance for a medicine needs to consistently define and include the relevant costs of introducing any new or expanded testing required specifically to use the medicine.

Where NHS genomic testing services and infrastructure have yet to be established, implementation of such medicines may inadvertently cause inequity of access.

Relevant costs for genomic testing need to be consistently defined and included in evaluations at NICE.

Joint agreement and a process for sharing timely information ensure costs reflective of NHS practice are included in NICE evaluations, allowing appropriate commercial discussions and implementation planning where relevant.

This is particularly important for NICE TAs that have a funding requirement and supports timeliness of patient access to new medicines.

Relevant costs are the costs of:

• delivering testing and associated consumables
• routine implementation of testing (staff time, laboratory space)
• the NHS GMS infrastructure to support testing

A cost framework that considers the above for genetic testing (including single gene and panel based) will be developed.

NICE quantitatively evaluates testing within the clinical pathway and only recommends testing that is clinically effective and represents value for money as part of the treatment pathway.

Policy decisions in year may require updates to the Test Directory, such as where NICE approves a medicine via a TA or HST for which a genomic test is an access criterion.

NHS England recognises such firm recommendations for genetic testing and such tests do not undergo another review of the evidence.

The process proceeds from the Test Evaluation impact assessment process – for example, laboratory capacity and technologies – to support implementation.

NICE will engage with NHS England to inform data within the model, such as likely technology used and eligible population, to enable this principle.

NHS England accepts NICE recommendations at the evidence review level and will take these forward into broader commissioning and implementation decision-making processes.

Equally, tests commissioned by NHS England via the NHS GMS will feed into NICE surveillance, ensuring their inclusion in relevant guidelines is considered as part of normal prioritisation processes.

For example, the use of diagnostics within clinical pathways to guide an off-label treatment, such as CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attack.

To help the NHS address high unmet need, NICE can conditionally recommend technologies for use over a 3-year period while evidence is generated.

The NHS GMS infrastructure supports the generation of real-world evidence in the NHS where possible and helps drive genomic innovations forward.

Once evidence generation has been completed, NICE can review this additional evidence to decide if the technology should be recommended for national NHS adoption.

Pathway phases

This joint pathway for new or innovative genomic tests entering the NHS has 4 phases:

1. horizon scanning (-5 to -2 years)
2. topic selection and prioritisation (-2 to 0 years)
3. evaluation (0 to +1 years)
4. implementation (to +3 years)

where 0 years is when a genomic test enters evaluation.

Each of these phases is described below, but infographic representations are also available for download from the NHS England website.

Horizon scanning

This part of the pathway will enable early understanding of advances in genomic testing and their potential impact both clinically and on NHS resources.

Both NHS England and NICE routinely horizon scan (5 to 2 years out) for upcoming genomic technologies – whether as standalone diagnostics or as tests supporting the use of a medicine.

By developing a partnership between NHS England and NICE, there can be greater and more timely sharing of information and a commitment to work together to resolve challenges that may occur for innovative tests, particularly those that disrupt current pathways to care or require changes to infrastructure.

They will share and discuss quarterly their respective insights into upcoming genomic testing developments, including possible future evaluation needs, to enable preparation for rapid and streamlined evaluation and implementation of innovations, as and when required.

NICE and NHS England will put in place an additional annual workshop to widen discussion around upcoming developments in genomic medicine to other invited organisations and representatives – for example, the Department of Health and Social Care, Medicines and Healthcare products Regulatory Agency, Office for Life Sciences and industry – enabling system-wide planning and preparation.

Topic selection and prioritisation

Improved communication regarding topic selection and prioritisation will facilitate streamlining of genomic testing evaluations across NHS England and NICE to enable patient access in the NHS as quickly as possible.

It also enables joint signals from the 2 organisations to the NHS on implementation priorities.

NHS England reviews all applications to the National Genomic Test Directory annually.

Any applications suitable for evaluation via NICE processes or potential topics that may require wider NICE product updates will be referred to NICE each April, after applications for the year have closed.

Suggested topics will then be reviewed at the monthly NICE prioritisation board to decide if they are suitable topics for NICE guidance.

For evaluation for NHS implementation, the primary entry point for genomic tests is NHS England’s annual Test Directory call. However, NICE may still receive topic intelligence and requests for evaluation of genomic testing from its stakeholders, in line with its independent remit.

To ensure the NHS GMS is up to date on topics coming through NICE, those raised at the NICE prioritisation board (including any that are unsuccessful) will be discussed in the monthly joint update meetings between organisations that cover genomics topics of common interest from topic prioritisation to implementation.

These in turn are another opportunity for NHS England to refer priority topics to NICE for review.

Evaluation routes

NHS England and NICE each have an independent evaluation approach. These are complementary and both enable the assessment of genomic testing in the NHS in a variety of pathways.

NHS England – through the Test Evaluation process – will continue to review all testing before it is considered for national commissioning as outlined in the National Genomic Test Directory.

The policy underpinning this process is set out in more detail in the NHS England policy document: Updating the National Genomic Test Directory.

NICE evaluates testing where relevant as part of reviews of genomically-enabled medicines and, when required, may also evaluate genomic testing interventions that address an NHS need and may have a significant impact on services, pathways or NHS resources, such as triage testing or pharmacogenomic profiling.

NHS England may refer these high impact tests to NICE, or they may be referred through NICE’s own topic intelligence function.

NHS England will continue to evaluate specialist genomic testing such as diagnostic testing for rare diseases.

NICE will review all topics as per its respective processes and will enable the Test Evaluation impact assessment in parallel from the scoping stage, with an opportunity to input NHS GMS testing delivery requirements and costs, alongside any further detail NICE receive from the company (where relevant).

Information will be sought from NHS England at the scoping stage of all NICE assessments and subsequent draft recommendations will be fed back following the NICE committee so that NHS England has the opportunity to review and provide feedback as part of NICE’s consultation period.

The monthly update meetings will also provide an opportunity to discuss key issues relating to evaluation.

Implementation

All test evaluations – via either route – will feed back to NHS England to conduct NHS GMS impact assessments for national commissioning in the NHS.

NHS England centrally commissions the NHS GLHs to deliver laboratory-based genomic testing for the NHS.

This does not include point-of-care genomic tests and genomic testing used in the National Screening Programme.

Ongoing implementation assessments will be discussed as part of regular joint meetings and information from the NHS GMS will inform modelling that, wherever possible, reflects real-world implementation.

In parallel, draft guidance recommendations will be discussed alongside the opportunity to feedback on the consultation.

NHS GMS will support commissioning of testing required for TAs and HSTs, and for Cancer Drug Fund and Innovative Medicine Fund medicines following an impact assessment.

NICE guidelines and HealthTech guidance will be reviewed by NHS England for a commissioning decision following an impact assessment.

Products recommended as part of NICE’s Early Value Assessment will be supported by NHS GMS infrastructure to gather further evidence.

The monthly update meetings will provide an opportunity to discuss key issues relating to implementation.

Key documents

• Latest version of the National Genomic Test Directory
• National Genomic Test Directory policy
• NICE Health Technologies Evaluation Manual
• NICE-wide topic prioritisation manual

Contacts

NHS England – Test Evaluation Team: england.testevaluation@nhs.net

NICE: Topics@nice.org.uk

Classification: Official
Publication reference: PRN01715