Genomics and genome editing in the NHS Contents

Conclusions and recommendations

Whole genome sequencing

1.The 100,000 Genomes Project is an ambitious project that has helped put the UK in a world-leading position on whole genome sequencing and genomic medicine. As the 100,000 Genomes Project approaches the completion of its sequencing target, the Government should formally evaluate it to inform the wider introduction of whole genome sequencing in the NHS (which we explore further below). The 100,000 Genomes Project could be a model for future ‘Health Advanced Research Programme’ projects, as suggested in the Life Sciences Industrial Strategy. If so, HARP projects should have processes and resources put in place from the start to allow their subsequent evaluation, and should explicitly take account of how existing NHS initiatives and resources will be complemented or absorbed. (Paragraph 12)

2.There is great potential for whole genome sequencing to improve patient care, particularly for diagnosing rare diseases and for more personalised targeting of medicines and treatments. However, there is not yet sufficient unambiguous evidence gathered to demonstrate its benefit for routine care, in particular for common cancers. As the first large-scale whole genome sequencing exercise in the world, the 100,000 Genomes Project must be an important source of evidence to determine the technology’s clinical efficacy and cost-effectiveness across the whole ‘clinical pathway’, and at the level of patient populations, rather than individual patients. Such evaluation does not appear to have been conducted, or at least has not been made public. In advance of the launch of the Genomic Medicine Service, NHS England should undertake and publish a detailed evaluation of the 100,000 Genomes Project, to inform an assessment of the anticipated clinical- and cost-effectiveness of routine whole genome sequencing in the NHS. (Paragraph 27)

3.The 100,000 Genomes Project will not be able to provide all of the evidence required to assess the effectiveness of whole genome sequencing for all conditions. Research and evidence-gathering will need to be continuing processes. We endorse the CMO’s recommendation for NHS England to embed implementation research at all stages of redevelopment and laboratory reconfiguration for the Genomics Medicine Service. Where more evidence is needed to approve whole genome sequencing for particular conditions, current diagnostics should be maintained alongside whole genome sequencing, as was done in the 100,000 Genomes Project, unless the genomic diagnostic has proved more accurate for that condition. (Paragraph 32)

Establishing an NHS Genomic Medicine Service

4.Genomic medicine requires the collection and comparison of a wide range of data, and the digital infrastructure for whole genome sequence data cannot be developed in a silo separate from other data sources. Although whole genome sequencing and other genetic tests are already being delivered by Genomics England and NHS England respectively, it is clear that significant infrastructure remains to be put in place in order to enable an efficient Genomic Medicine Service. Unfortunately, the wider improvement of NHS data systems is running to a later timeframe than that needed for a Genomic Medicine Service that will begin operations later this year. Elements of the required infrastructure do not yet have clearly-allocated budgets. (Paragraph 43)

5.Given the intention to have the Genomic Medicine Service in operation later this year, the budgets for the required digital infrastructure should be agreed and confirmed now. Decisions on when to provide whole genome sequencing in place of conventional alternative diagnostic tests should take into account the digital infrastructure available to support it, to avoid attempting to roll out a Genomic Medicine Service at a speed that cannot be delivered. (Paragraph 44)

6.There are widespread concerns about insufficient training and a lack of qualified NHS England staff ahead of the introduction of the Genomic Medicine Service later this year. Health Education England has still to undertake detailed workforce planning and modelling, and there is uncertainty within the existing workforce about the extent of genomics knowledge they will need. The Genomics Education Programme is playing an important role in raising awareness and expertise, however this was initially a 4 year programme. It is now to be continued, but with a substantially lower level of funding than previously. Genomics will need to be embedded in training curricula and revalidation criteria to ensure sufficient genomics understanding by all staff involved in clinical decisions. (Paragraph 54)

7.With the Genomic Medicine Service due to be operational later this year, Health Education England should complete detailed workforce planning and modelling as soon as possible. They should also work with the Royal Colleges of Medicine and other stakeholders to embed genomics into relevant curricula and revalidation requirements as a priority. The Government must support them in this work, and ensure the necessary funding is available. (Paragraph 55)

8.Multi-disciplinary teams will be critical to providing an effective genomic medicine service to patients and to keep abreast of a fast-evolving science. We agree with the CMO’s recommendation to establish a national network of multi-disciplinary teams. The Government should set out what funding and support it will provide to enable multi-disciplinary teams to develop from being research-oriented to supporting clinical practice, and factor their costs into the commissioning of the Genomic Medicine Service. (Paragraph 58)

Access to genomic data

9.The importance of data sharing for genomic medicine presents a challenge to the concept of restricting the usage of patients’ data to their direct personal care. Whether or not the NHS Constitution is changed to reflect the increasingly blurred distinction between genomics research and clinical care, public support will be vital to the delivery of an NHS Genomic Medicine Service. It is encouraging that a high proportion of patients involved in the 100,000 Genomes Project consented to sharing their genomic data, but the ‘broad consent’ process used in the Project is unlikely to be feasible for routine genomic medicine in the NHS without an extensive and continuing public debate to raise public understanding and acceptance. (Paragraph 74)

10.We recognise the Government’s determination to implement the General Data Protection Regulation but it should now significantly increase its efforts to raise public awareness of genomic medicine, and the data-sharing needed to enable it, ahead of the introduction of the planned Genomic Medicine Service. The Government should confirm and publicise the consent framework to be used for the Genomic Medicine Service as soon as possible, to give time for NHS staff and patients to be aware of data sharing implications before routine genomic medicine is rolled out. Following a public consultation, the Government should provide clear information regarding what data will be collected, who will be able to access that information and for what purposes, and an explanation of the benefits and risks involved in sharing genomic data. (Paragraph 75)

11.A large proportion of the public express unwillingness to disclose their genomic data to insurance companies. It is important that this concern is recognised, and that measures are in place to avoid large numbers of patients refusing their consent to receive additional findings from whole genome sequencing as a result of such concern. A voluntary Concordat and Moratorium, agreed between the Government and the Association of British Insurers, currently restricts insurers’ ability to ask for predictive genetic test results. As whole genome sequencing is rolled out across NHS England, the terms of the Concordat and Moratorium may come under pressure. (Paragraph 82)

12.We recommend that the Government seeks to renew the Concordat and Moratorium as soon as possible. The current review should take into account the introduction of whole genome sequencing as part of the NHS Genomic Medicine Service, the likely increase in predictive genetic test results this will cause, and the potential for more conditions to be predictable as genomic medicine progresses. The Government should set up systems to monitor any reluctance among patients to undertake genomic testing due to insurance concerns, assess the experiences of countries that ban insurers’ use of predictive genetic test results (addressing in particular the ABI’s concerns regarding the potential for adverse selection problems), and be ready to consider putting the Concordat and Moratorium on a statutory footing if the current voluntary system begins to limit the uptake of predictive testing. (Paragraph 83)

13.The data collected by the 100,000 Genomes Project, the Genomic Medicine Service and the wider NHS will constitute the best data resource for genomic medicine in the world. The NHS could benefit greatly from the realisation of the commercial value of the data that are being generated. (Paragraph 90)

14.The Government must be ambitious in aiming to capture the full commercial value of the genomic and associated datasets it holds, rather than merely aiming to cover its costs. Genomics England should seek to maximise the commercial value of its datasets and continue to provide industrial and academic access to these data to facilitate the growth of the UK genomics industry and the development of new treatments, while ensuring consent and data safety safeguards. Genomics England should explore technological and commercial mechanisms to enable better integration of genomics data held inside their portal with other NHS data and data owned by private companies. While patient benefit should be the focus of the Genomic Medicine Service, income generated from NHS data can be reinvested in the NHS and further benefit patients in the long-term. (Paragraph 91)

Genome editing

15.Genome editing is a rapidly developing technology that is already a powerful tool for research, and which has significant promise for therapeutic use. Different applications of the technology entail different ethical considerations, with ‘germline’ editing being the subject of particular debate. The UK currently has a strong regulatory environment in this area, striking a balance between enabling important research and providing public confidence that ethical and other considerations are given appropriate oversight. (Paragraph 106)

16.We recommend that the Government specifically require UK Research and Innovation to closely monitor the development of genome editing for potential obstacles to innovation in this area. If it becomes appropriate to review or amend the current regulations in light of technological developments, the Government should use a similar process as the one that accompanied legislative changes to allow mitochondrial donation. (Paragraph 107)

Published: 20 April 2018