Genome UK – the future of healthcare, the long-awaited UK Government genomics strategy was published last week. This blog from Genetic Alliance UK’s policy team discusses key elements of the new strategy from the perspective of our community.
Before we dive in, we should acknowledge that the Office of Life Sciences engaged with Genetic Alliance UK on the development of this strategy, meeting multiple times with our team and the Patient Empowerment Group that supports our Rare Disease UK campaign. We are grateful for this engagement, and recognise that we were listened to.
In examining this strategy, our focus is naturally on the elements of the strategy that focus on rare and inherited diseases.
A UK-wide strategy?
One of the headline commitments to sequence 500,000 genomes is to be completed by the NHS Genomic Medicine Service in England, leading us to ask to what extent do we have a truly UK-wide strategy in Genome UK? The words ‘Wales’ or ‘Welsh’ appear on 10 pages of the strategy, ‘Scotland’ or ‘Scottish’ on 2 pages, and there does not appear to be any direct reference to Northern Ireland. The challenge of making this truly a UK-wide strategy is recognised at the end of the executive summary, acknowledging the potential barriers to data-sharing and the threat to equity that this poses. We welcome this acknowledgement.
The foundation of the Genomics Partnership Wales, with accompanying investment from the Welsh Government, has fostered plans and progress from Wales which means these can be described in the strategy. This contrasts with the approach in Scotland, where policy development is set to be informed by the UK Strategy, a deferral which has meant there has been little to include in this document. This leaves patients in Scotland and Northern Ireland with little understanding of what will be delivered for them, and which institutions in their nations will hold the responsibility.
This focus on England-specific initiatives leaves us concerned that unrealistic expectations may have been set for patients in devolved administrations. It will be important that devolved administrations clarify their commitments to deliver genomic medicine, and are clear about where support and collaboration between nations of the UK are necessary to ensure equity for patients and families. Genetic Alliance UK will work to support equity of access to all benefits and opportunities described in the strategy.
Diagnosis and clinical pathways
We welcome the emphasis on diagnosis in the strategy, this is a fundamental part of anyone’s journey with a rare condition – a stage that has taken decades for some in the past. Earlier access to the diagnostic power of genomic medicine for a greater portion of the patient population will shorten the diagnostic odyssey for many.
Everyone diagnosed with a rare condition will need a care pathway. As understanding of the genome increases, new conditions will be diagnosed, and these conditions will need to have pathways developed. The strategy clearly acknowledges the importance of clinical pathways, though this is mainly through the lens of including new diagnostic tools or data assets as inputs or starting points to pathways. We would like to have seen acknowledgement that investment in diagnosis requires consequent investment in caring for an increased portion of diagnosed patients – a burden is likely to be felt by specialised services across the UK.
Expanding screening in early life
The strategy acknowledges that there are genetic conditions that could be detected at birth through genome sequencing that cannot be detected using bloodspot testing; there are conditions currently tested for using bloodspot testing that can be detected through genome sequencing; and genome sequencing could significantly increase the diagnoses of other genetic conditions. This neatly sidesteps the fact that the UK National Screening Committee has declined to recommend screening for a set of conditions – through any means – that are routinely screened for in many other countries.
Nevertheless our members strongly support changes to decision-making around newborn screening in the UK, and an exploration of the possibilities of genome sequencing in the newborn. We welcome the work described here to better understand patient and public attitudes to the use of genome sequencing as a newborn screening tool.
We welcome the commitment to a seamless integration between research and clinical application of genomic medicine. We have seen the benefits of a closer link between clinical practice and research on the genome, this direction of travel has enabled the delivery of diagnoses to members of the SWAN UK (syndromes without a name) community of people with children with undiagnosed conditions.
Functional, transparent data sharing is fundamental to the success of the whole strategy, not least in research. The strategy recognises this, and the challenges that come with maintaining public trust that is necessary for sharing to be possible. The tools identified as necessary to achieve this, ethical frameworks, data security, appropriate regulation of data and a robust technical infrastructure are an immense challenge to implement well. The target to make this infrastructure UK-wide should be considered from the very beginning of this work. In doing this, we will need to address long-standing challenges such as enabling interoperability between systems within NHSs in the four nations.
The brief mention of an England based initiative to prioritise research in areas of unmet health need will be exciting to our membership – we will look forward to more details on this, and indeed look to ensure the benefits of this work is felt across the UK.
UK Strategy for Rare Diseases and the UK Rare Diseases Framework
2020 marks the end of the UK Strategy for Rare Diseases and, we expect, the publication of the UK Rare Diseases Framework. Rare disease policy and genomic policy have a large intersection, with diagnosis and innovation in treatment being key components for both. Many aspects of rare disease policy answer challenges that genomic policy raises – such as how to deliver coordinated care to an ever more specific set of healthcare needs. It is a pity therefore, that this strategy does not acknowledge these other two pieces of rare disease policy.
As we await the publication of the UK Rare Diseases Framework we have an opportunity to assess whether Genome UK is delivering against the markers of success that we have identified for the new framework. For followers of rare disease policy, there is a worrying number of commitments in Genome UK – 45 being close to the 51 commitments that are widely considered to be a key reason why the UK Strategy for Rare Diseases (2013) has failed to have the impact hoped for. Funding was another key reason why the UK Strategy for Rare Diseases – which had no funding attached – might not have delivered. This document does not appear to bring new money, but it does describe and align a series of existing investments. Having witnessed wide variation in approach between nations over the life of the UK Strategy for Rare Diseases, we anticipate oversight within the four nations will be a key challenge that the success of this strategy may depend upon.
Looking to the future
In this blog we haven’t been able to discuss all the positive commitments in Genome UK, including the drive to correct the ethnic bias in genomic datasets, the welcome focus on patient voice and public opinion, and positive messages about international collaboration. There is certainly work to be done to ensure that the benefits of this 10-year strategy is felt across the UK. The concerns we raise here can be overcome through collaboration, strategic alignment and investment proportionate to the challenge and to the benefits we can anticipate from our genomic future. This is a welcome piece of policy, with measurable commitments and laudable ambition for the future of genomic healthcare in the UK – and we look forward to the opportunities it will bring for our community of people living with genetic, rare and undiagnosed conditions.