20 April 2018
A new report from the House of Commons Science and Technology Committee sets out recommendations for the UK Government needed, the committee says, to ensure that the transformative potential of genomic medicine is achieved.
Genomics and genome editing in the NHS is the final report of an extensive inquiry conducted by the cross-party committee. The report praises the impact of the 100,000 Genomes Project and the tremendous efforts by the NHS in supporting the Project and developing new genomic medicine services. However, it also warns that failure to address issues including delays to digital infrastructure, staff training and public concerns over the use of patient data ‘risk making the planned NHS Genomic Medicine Service unable to deliver upon this potential’.
The 100,000 Genomes Project, is the first major large-scale whole genome sequencing project in the world. From inception the project has been linked directly with the NHS via a network of Genomic Medicine Centres through which patients and families have been recruited to participate; where clinically useful information has been discovered, this has been fed back to patients through their clinicians in the GMCs.
Although the 100,000 Genomes Project, delivered by the Department of Health and Social Care wholly owned company Genomics England, has taken longer than originally intended, the halfway mark of 50,000 whole genome sequences was passed earlier this year, and Chair Sir John Chisholm has said that the full 100,000 will be complete by the end of 2018. Plans to establish a National Genomic Medicine Service by NHS England, building on both infrastructure developed for and learning from the project, are well advanced. NHSE further plans to use this as the basis for the development of personalised medicine throughout the NHS.
The Chief Medical Officer for England, Prof Dame Sally Davies, made genomics the topic of her 2016 annual report Generation Genome. The CMO told the genomics inquiry that NHS England plans for the Genomic Medicine Service will be operational by mid-2018 and ‘mainstreaming’ by mid-2019.
The HoC committee clearly acknowledges both the UK’s past achievements and future potential in genomic and personalised medicine. However, to realise the latter, it makes a range of recommendations for action.
1. The Government should formally evaluate the 100,000 Genomes Project to inform the wider introduction of whole genome sequencing in the NHS. Similarly, if, as proposed in the UK Life Sciences Industrial Strategy, the project serves as a model for Health Advanced Research Programme (HARP) projects, these too ‘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’.
The report recommends that NHSE should perform a detailed evaluation of the project ‘to inform an assessment of the anticipated clinical- and cost-effectiveness of routine whole genome sequencing in the NHS’, but also notes that research and evidence gathering will need to be ongoing processes.
This proposal echoes that of the PHG Foundation, the Association for Clinical Genetic scientists and others, and makes sense. Why, after all, invest such significant amounts of time, effort expertise and money if you do not also take the opportunity to capture the evidence from the project to improve the genomic medicine service. The report recommends that NHSE should perform a detailed evaluation of the project ‘to inform an assessment of the anticipated clinical- and cost-effectiveness of routine whole genome sequencing in the NHS’, but also notes that research and evidence gathering will need to be ongoing processes.
2. The Government should agree and confirm budgets for the digital infrastructure required to support the planned Genomic Medicine Service. Significant digital infrastructure is needed but unfortunately the wider improvement of NHS data systems is running to a later timeframe than that needed for a Genomic Medicine Service beginning in 2018.
Many respondents to the inquiry emphasised the scale and complexity of infrastructure requirements for optimal genomic medicine, such as that needed to support an iterative process for clinical interpretation of genomic data as outlined by PHG Foundation’s Dr Hilary Burton. This is a very practical recommendation; whilst the lag in NHS digitisation cannot fail to have an impact on plans for genomic medicine, confirming budgets would at least lay the groundwork for closing this gap. Meanwhile, the report proposes that decisions on when to provide whole genome sequencing in place of conventional alternative diagnostic tests ‘should take into account the digital infrastructure available’.
3. The Government should support and fund detailed workforce planning and modelling for training in genomics. It should also set out how it will support the multidisciplinary teams essential to provide an evolving and responsive clinical service.
Multiple experts from health professions expressed concerns that a lack of genomics training is hampering roll-out of genomic medicine; the report raises concerns about the current plans to reduce funding to the Health Education England (HEE) Genomics Education Programme, and instead underlines the imperative for the Government to increase support to HEE, as an essential element for the National Genomic Medicine Service. The importance of combining expertise in medicine, genomics, bioinformatics and other areas to properly support genomic medicine is firmly underlined.
4. The Government should significantly increase efforts to raise public awareness of genomic medicine, and the data-sharing needed to enable it. In particular, it should publicise the consent framework to be used for the Genomic Medicine Service as soon as possible.
The report notes the ‘increasingly blurred distinction between genomics research and clinical care’ highlighted by the PHG Foundation, and particularly that the broad consent process used in the 100,000 Genomes 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’.
The report notes the ‘increasingly blurred distinction between genomics research and clinical care’ highlighted by the PHG Foundation, and particularly that the broad consent process used in the 100,000 Genomes 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’. Making the link between the necessity for data sharing and the benefits of genomic medicine in the public mind is vital.
It is also recommended that the current voluntary restriction on insurers’ ability to ask for predictive genetic test results should be renewed, in the light of public concerns over genomic data disclosure to insurers and the risk that this might result in many ‘refusing their consent to receive additional findings from whole genome sequencing’. If a voluntary agreement is not reached, the report recommends placing it on a statutory footing.
5. The Government should seek to capture the full commercial value of the genomic and associated datasets it holds. Whilst patient benefit should be the focus of the Genomic Medicine Service, income generated from NHS data can be reinvested in the NHS to benefit future patients; Genomics England should 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.
The imperative to support UK PLC has been part of Genomics England’s brief, and the committee not only endorses this but urges the Government to ensure financial benefits for the NHS are maximised –with an important caveat on ensuring patient consent and confidentiality.
The report’s recommendations are focused, supportive and highly practical; it fully endorses the vision and ambitions behind the 100,000 Genomes Project and the National Genomic Medicine Service, but where it does propose actions by the Government it is unambiguous in reasoning and urgency. How the Government will respond to these clear calls to action remains to be seen, but many across the genomics community will be enthusiastic about the conclusions of the committee.