England’s Rare Diseases Action Plan: Time To Turn Ambition Into Action

England’s Rare Diseases Action Plan: Time To Turn Ambition Into Action

The world has experienced some dark moments in the past week. But for people living with a rare disease in England, there was some positive news. The Rare Diseases Action Plan, published to mark Rare Diseases Day on Monday, set out a range of actions to provide faster diagnosis and better access to treatment for people with rare diseases.

The Action Plan for England is, as expected, actions focused. It contains timelines for delivery and sets out delegated organisations to drive forward each deliverable.

The most exciting of these is the development of a strategy for gene therapies and other ATMPs (advanced therapy medicinal products) by summer 2022. OVID has been working in cell and gene therapy policy over the past few years, so this announcement is a great step forward. A joined up approach across Government, NHS, industry and patient groups to support patient access to these innovative treatments is clearly needed and Monday’s announcement provided the first recognition of this from the Department.

To benefit from these new treatments, first we must sometimes find the patients. A renewed approach to rare diseases screening is essential and the proposed enhanced National Screening Committee is critical. The pilot for whole genome sequencing for genetic conditions in healthy newborns is world leading.

Furthermore, welcome clarity is provided on how people with a rare disease will benefit from the new integrated models of care.

Many patient groups and partners have welcomed these actions. They provide new hope to people living with a rare disease. Where the Action Plan falls short is on accountability for implementation. Perhaps this is deliberate, because those who study these documents closely will recognise that the majority of the actions are to be led by the NHS and its arm’s length bodies. Currently under huge pressure on multiple fronts, can the NHS deliver on this promise?

The NHS is being directed to take on actions for which it does not have huge amounts of bandwidth. Without agreed next steps, who can guarantee that implementing a gene therapy strategy will be a priority for NHS organisations who are struggling to survive the week?

Ultimately, if Ministers want to hold the direction setting power in the NHS, they need to deliver. It’s time to turn their ambition into action.