Fibrodysplasia Ossificans Progressiva

Ronnie Cowan Excerpts

Thursday 7th September 2023 Commons Chamber

[Ronnie Cowan (Inverclyde) (SNP)]

I congratulate the right hon. Member for Hemel Hempstead (Sir Mike Penning) on securing the debate. I apologise if I stumble between illnesses, diseases and genomics; this is not my specialist subject.

Rare illnesses are collectively widespread. There are thousands of different rare diseases and illnesses, and each one can require highly specialised treatment. That means that people living with them can face the prospect of a long “diagnostic odyssey” before they are accurately diagnosed and able to access treatment. The various aspects of their treatment and care also often lack co-ordination. It is vital that we continue to strive for improvement and ensure that all those living with a rare disease get the right diagnosis faster, and can access co-ordinated care and specialist treatment.

The “UK Rare Diseases Framework” was co-produced by the UK Government and the devolved nations. It sets out the key priorities for the next five years for improving the lives of people living with rare diseases. Each nation committed to producing their own action plan based on how those key priorities will be implemented. The Scottish Government understand the importance of the framework and are committed to implementing the 51 commitments outlined within it. They also welcome the progress that has been made in Scotland in delivering genomic medicine and empowering patients through the UK’s rare diseases forum.

In December 2022, the Scottish Government published their “Rare Disease Action Plan”, which was developed through significant engagement with the rare disease community. Through their combined efforts, the Scottish Government will ensure that they are putting those living with a rare disease at the heart of policymaking, ensuring this meets the needs of the rare disease community in Scotland while reaping the benefits of a four-nation approach. The Scottish Government’s action plan sets out four key themes to implement the UK rare disease framework: ensuring patients get the right diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better co-ordination of care; and improving access to specialist care, treatment and drugs. The Scottish Government remain fully committed to ensuring that there is continual improvement in supplying patient-centric care that is safe and effective for those living with a rare disease.

The genomic medicine landscape is developing rapidly. In the last five years we have seen the implementation of impactful genetic testing for a variety of conditions, which has helped to inform patient treatment, allowing patients to receive the right treatment at the right time. Pathogen genomics is also helping to deliver “precision public health” by guiding investigations of infection outbreaks, antimicrobial stewardship, better-targeted disease control, and infection surveillance.

The Scottish Government published “Genomics in Scotland: Building our Future” in March this year. The Scottish Government’s strategic intent is to deliver an equitable, person-centred, population-based genomics service and infrastructure for Scotland. This publication is the first in a series, setting out the Scottish Government’s strategic vision for Scotland’s genomics future. They will publish a series of documents in the future, explaining how they will deliver genetic services that will allow Scotland not only to treat disease but to prevent ill health before the prevalence of symptoms. Scottish physicians and scientists have been actively participating in the advancement of genomic medicine over the past three decades. Scotland has a great foundation to build on within the NHS laboratory network, but it is important that these laboratories are fit for the future, as we know that genomic medicine is on a steep trajectory.

Achieving the Scottish Government’s ambition of having a genomics ecosystem with the infrastructure to support it will require investment in rapidly evolving technologies, skills and facilities. The Scottish Government will be innovative and adaptive to change, working collaboratively through the triple helix approach with academia, industry and the public sector to harness the opportunities at their disposal and deliver an integrated approach to genomics across Scotland. Their genomics strategy aligns with their rare disease action plan, and they will engage with the Rare Disease Implementation Board, as well as key rare disease organisations such as Genetic Alliance UK, to ensure that the strategy is informed by those who will benefit most.

While I see the intent and acknowledge the money being spent, it is clear that far more money is required to fund the research that is needed. The UK Government have overspent tens of billions of pounds on the Ministry of Defence, Crossrail and HS2—and, ironically, PPE during a health crisis—which shows that the money is there, but it must be spent wisely. In Scotland, following the 2022-23 emergency budget review, genomics was allocated a revised budget of £5 million. Through the funding allocated so far in 2022-23, the Scottish Government have established the Scottish Strategic Network for Genomic Medicine and funded a genomics transformation team within the NHS National Services Division, led by a consultant clinical scientist and supported by clinical leads for rare disease and cancer.

Genomic medicine is an integral part of precision medicine and precision health. It can lead to earlier and more precise diagnoses, as well as more targeted prevention and management of diseases. Over the next five years, the genomics landscape in Scotland will be transformed as we work to ensure that patients have equitable access to timely, personalised and high-quality genomic medicine for a range of conditions, including FOP.

[Mr Deputy Speaker (Sir Roger Gale)]

I call the shadow Minister.