Written evidence submitted by NHS England (GEN0007)

Executive Summary

 

WRITTEN EVIDENCE

  1. NHS England is a major partner, with Genomics England, in 100,000 Genomes Project – a £300 million scheme to collect and decode 100,000 human genomes.  The Project, which is looking at certain cancers and rare disorders, has the potential to improve the prediction and prevention of disease, introduce more precise diagnostic tests, leading to the development of new drugs and diagnostics and targeted and personalised interventions. 

 

  1. NHS England’s role in the Project is to fund, commission and manage the NHS contribution – 90,000 DNA samples and associated phenotypic data.  The Project will be world leading in the systematic use of genomics and genetic technologies for participant benefit in the NHS and in the utilisation of whole genome sequencing in routine clinical care, while also supporting the research and development utility. 

 

  1. To deliver the NHS commitment, NHS England has established a national network of 13 NHS Genomic Medicine Centres (NHS GMCs) to provide genomic services across the country.  Each of the NHS GMCs is working in partnership with local providers, across populations of 3-5 million, providing equitable access to eligible patients.

 

  1. Knowledge from the Project will enable clinical teams to better characterise an individual’s condition, learn from others with the same disease and connect seemingly different conditions with the same underlying genomic cause. Through the Project we are laying the foundations for the introduction of personalised medicine informed by genomic characterisation across the NHS.

Transformational change

  1. The creation of NHS GMCs has already provided the infrastructure to bring about transformational changes for mainstreaming genomic medicine in the NHS and enable the routine use of whole genome sequencing when the Project ends. Transformation has already been witnessed:

 

  1. Establishment of cross-speciality Genomic multi-disciplinary teams (MDTs) and new models of Clinical Champions.  There has been a high-level of clinical engagement across specialities and disciplines to gain enthusiasm, ownership and embed genomics in clinical practice.  Genomics MDTs are working across many disciplines (pathology, medicine, nursing, AHPs, scientists, clinicians and managers) and agencies to collaborate in identifying and reviewing potential participants for the Project and referring patients for genomic investigations, raising the profile of genomics in routine care as well as discussing next steps and agreeing clinical actions as part of the Project and the use of whole genome sequencing.  This has led to the recruitment of participants outside of the speciality of clinical genetics and improved access to overall genomic testing for many areas of medicine. The Genomic MDTs are critical to the success of the Project and in the drive towards personalised medicine and a greater understanding of relating genomic variants to appropriate treatment interventions which sometimes involves non pharmacological interventions. In addition, there has been evidence of local leadership and clinical engagement across previously untapped localities, where the Lead Organisations in each NHS GMC have established local Standard Operating Procedures for the handling of samples, supporting safe and effective sample and data flows and mechanisms for feeding actionable results back to patients.

 

  1. Enhanced and standardised protocols, patient pathways and practices (in line with enhanced and standardised laboratory sample handling, processing and DNA extraction protocols for blood and tumour).  Improvement approaches have been used to streamline and mainstream the patient pathways, increasing the volume of patients recruited, delivering better patient experience and enhanced patient benefits with the ability to track samples and extract and collate data at its core.  These approaches have also accelerated learning and solution generation, and enabled the management of the change process for new and improved patient pathways and new ways of working across significant geographical areas of the NHS.

 

  1. Transformation of molecular pathology and surgical pathways.  The creation of 13 NHS GMCs has enabled a successful network of laboratories - encompassing high throughput centres and their local delivery partners – to provide more equitable national coverage working to a highly defined service specifications and protocols.

 

The Project has forced the development of high quality standardised blood sample handling from patient to DNA extraction.  The stringent requirements for the collection and processing of the multi-omics samples has resulted in a resourceful biobank for future experimental research.  The move to Fresh Frozen tissue sample collection, handling and processing in cancer is in itself a Pathology Modernisation Project. 

 

Participation in new DNA focused External quality assurance schemes are a requirement of all NHS GMC laboratories for both blood and tumour samples. Individuals providing tumour content and cellularity assessment participate in tumour specific UK NEQAS DNA and histopathology schemes, all sponsored by NHS England.  This promotes learning and standardisation within the Project and also in mainstream pathology services. 

 

Multi-disciplinary working between laboratories and across the end-to-end pathway is enabling delivery of the Project and also discussions about improvements to routine patient care.

 

  1. Establishment of informatics infrastructure.  Data standards have been introduced in both laboratories and Trusts to meet the requirement for quality, standardised meta-data and clinical phenotypic data for the processing and analysis of samples.  The standards, funded through the 2015/16 Technology fund, are compliant with the National Information Board strategy requirements.  The fund was also used to upgrade and develop interoperability with laboratory systems and other electronic health systems (including between Trusts and NHS GMCs), which will provide the foundations for personalised medicine and encourage the objectives of a paperless NHS by 2020. 

 

Work is underway to refine data models, standardise validation rules and build local teams able to quickly and efficiently collate and upload applicable data for each patient.  The breadth and depth of data collected hugely increases the chances of a positive result and more in-depth understanding of the factors affecting those results.

 

  1. Sample tracking and handling.  The integration of NHS GMC Laboratory Information Management Systems (LIMS) with patient administrative systems has been prioritised through the Project.  In addition, GS1-compliant barcoding has been implemented across NHS GMCs, enabling the tracking and traceability of all samples from the patient right through the processing laboratories, to the receipt of the sample at the bio-repository.  This has promoted the safe identification of samples and reduced the risk of error.

 

  1. Pioneering partnership and network structures.  NHS GMCs are engaged and integrated into local Academic Health Science Network structures and are supported by regional medical directorates.  The Project has facilitated new partnership working across large geographical areas, spreading learning and adoption of new ways of working (even beyond the usual regional arrangements) and streamlining current provision.  Engagement with primary care is also beginning to emerge and outreach clinics in many areas of the country are providing equity of access.  National and local relationships and networks in communications, PPI, Informatics and education have also been established, helping to shape their contribution to this agenda and wider system priorities. 

 

  1. Patient and public engagement / inclusion in designing and establishing genomic consenting processes and redefining clinical pathways.  All NHS GMCs have patient and public engagement groups in place, many working across large geographies involving partner organisations, including the Genetic Alliance.  The PPI networks work together and share ideas with their constituents and help raise awareness and understanding of the genomics agenda.  These networks have been instrumental in reviewing consent materials, identifying barriers within the consenting process, helping prepare patients and their families for the receipt of results and in accessing further information.

 

  1. Workforce development and upskilling.  NHS England has been working with Health Education England (HEE) to ensure appropriate skills and training are in place to take forward genomic medicine in the NHS.  The HEE Genomics Education Programme has funded the appointment of NHS GMC Education and Training Leads ensuring relevant on-line materials are promulgated and broader workforce development needs are assessed, mapped and appropriate interventions identified. The Leads work alongside communications teams to raise awareness of genomics and its place in clinical care and management.  Many NHS GMCs are also offering introductory training to nurses on genomics, providing education and awareness, and a pool of trained resources to deliver the Project. 

Patient benefit

  1. Some patients with rare diseases have received a diagnosis for the first time as a result of having their whole genome sequenced.  Twenty-five per cent of NHS patients that had previously received a negative genetic result, have now received positive results.  We believe that for various diseases, whole genome sequencing will be used post the end of the Project.  Key findings from the Cancer component of the programme are yet to be established. 


Building the infrastructure

 

  1. NHS England aims to ensure that the NHS contribution to the Project is a catalyst for facilitating transformation in the NHS, working towards the adoption of a world leading genomics service. This will require the development of infrastructure to support an increase in genomic/molecular testing across the NHS.

 

  1. Molecular diagnostics, a collection of techniques used to analyse biological markers in the genome and proteome, is increasingly being applied across a range of clinical areas including oncology. It is a rapidly advancing field, driven by an exponential pace of change in understanding the molecular contribution to disease and technological advances in both cost effective and efficient sequencing technology and big data systems.

 

  1. Molecular diagnostics has the potential to alter diagnostic categories, enhance treatment strategies, enable early detection and prevention, and improve outcomes for cancer patients. This personalised medicine approach to cancer has already led to new treatments tailored to the particular molecular abnormalities that cause cancer in individual patients.

 

  1. The independent Cancer Taskforce recognised the need for more accessible molecular diagnostic provision in its report, Achieving World-Class Cancer Outcomes: A Strategy for England 2015-2020, published in July 2015. Following this, in September 2015, NHS England confirmed its commitment to implement the recommendations on molecular diagnostics.

 

  1. Regional Genetic Laboratories are central to all NHS GMCs and have been the focal point for adoption of genomic technologies into healthcare for over 40 years. These laboratories are currently the focus of an NHS England Specialised Commissioning intended genomic laboratory procurement exercise, the invitation to tender for which is due to be launched in the Spring of 2017. The procurement aims to create a new genomic laboratory infrastructure for the NHS in England based on centralised and local genomic laboratory hubs to support the provision of genomic testing for patients with, or at risk of, inherited and sporadic genetic disorders.  The procurement will support the NHS approach to personalised medicine and will also integrate genetic and genomics with broader molecular pathology.

 

  1. In addition, from April 2016 revised National Tariff Payment Systems (NTPS) arrangements were put in place to support the introduction of new molecular genetic tests into the NHS, helping clinical practice to keep pace with innovation. These changes have been broadly welcomed by industry bodies. The arrangements mean that approved new tests can be added to the national high-cost procedure list enabling, in-turn, commissioners to separately fund these. This arrangement can last for up to three years, after which time the costs of the test are incorporated into national prices for treatment episodes. These three years promote consistent uptake in accordance with clinical guidance for appropriate use and ensures that tariffs for services reflect the costs when incorporated. Approved tests will usually be those that have been specifically included within mandatory NICE guidance and NICE has committed to ensuring that the costs of tests are included in its appraisal process of new treatments. Also, some tests, such as Oncotype DX, may be funded because there is a specific commissioner agreement to do so following the development of commissioning policy and investment prioritisation. At present, there are arrangements in place to support the introduction of NRAS/KRAS, Oncotype DX,  BRAF,  KIT, and ALK testing. An additional test (PDL1 linked to a drug called pembrolizumab to treat non small-cell lung cancer) is also expected to go through this process, building on the agreed national approach.

 

  1. Also, in 2015/16, £10 million capital funding was secured for NHS GMCs to support them in developing the required IT infrastructure and interoperability to deliver the NHS component of the 100,000 Genomes Project.  A further £10 million has been secured for 2016/17.  This infrastructure will be a critical building block for personalised medicine.

 

  1. NHS England is working with NHS Digital to strengthen the NHS informatics capability and developing data standards through the Paperless 2020 programme.

 

  1. NHS England is also working to understand the whole genome sequencing capacity required in the NHS post April 2018 in the context of its overall genomic testing strategy, and the infrastructure needed to enable this within the commissioning system and to operate effectively with the legacy plans for Genomics England outlined in the SR commitments.

Personalised Medicine

  1. NHS England is developing an approach to personalised medicine for the NHS to embed personalised medicine into mainstream healthcare. This follows the publication of a Board paper in September 2015 and a high level vision document Improving Outcomes through Personalised Medicine in September 2016. The approach uses learning in rare disease and cancers generated through the 100,000 Genomes Project, and will build on the enabling infrastructure of the NHS GMCs, including informatics, data capture and sample processing abilities.

 

  1. Over the coming years, we will work with our partners - Genomics England, NHS Digital, Department of Health, Health Education England, Public Health England and others - to pave the way for personalised medicine approaches to be adopted across the NHS by:

 

  1. The overarching aim is to improve outcomes through the prediction and prevention disease, and more precisely tailored treatments.  The approach to personalised medicine will have shared decision making and patient participation at its heart.

 

  1. The aim is to create a flexible and responsive infrastructure within the commissioning system that will not only embed genomics into mainstream NHS care, but also be responsive to future changes.  NHS England will continue to horizon scan to be responsive to changing scientific and technological advances in the areas of genomics/molecular diagnostics and using this to drive a more objective approach to the utilisation and optimisation of medicines.

 

  1. This will support the delivery of the NHS Five Year Forward View, which recognises that NHS sustainability requires ‘revolutionary change in service provision’ – informed by research and innovation, with a new focus on prevention and earlier detection of disease and delivery by new ways of working.  The personalised medicine approach addresses the aims of the Forward View and the future challenges and priorities for the health system, contributing towards closing the three gaps identified:

 

 

January 2017