Tracking progress of the Rare Disease Strategy

February’s magazine focused on rare diseases, but how can implementation plans for the Rare Disease Strategy be properly monitored?

The Rare Disease Strategy implementation plans for England were jointly published by the Department of Health and Social Care (DHSC) and NHS England. Four years after the Strategy was announced, this is welcome news for the 3.5 million people in the UK who suffer from a rare disease and the countless other people who take an interest in their welfare.

One advantage of publishing these plans so long after the strategy, and for that matter, after the plans of the Devolved Nations, is that simply making it to publication was a cause of some celebration, and presumably relief. The plans do contribute to the greater level of transparency that DHSC and NHSE seek in this sector and demonstrate a commitment to maintaining improvement in the support, care and services that rare disease patients receive.

In an unprecedented move, the 51 commitments have been divided up between NHSE and DHSC, which makes deciphering the nuances of the proposals that little bit harder, and holding someone accountable for the deliverables trickier.

Official oversight is provided by the Rare Diseases Advisory Group (RDAG) which makes recommendations to NHS England on developing and implementing the strategy; and also by the Rare Disease Policy Board (RDPB), a UK-wide committee, managed by DHSC, with responsibility for facilitating the coordination of policy development and meeting the commitments set out in the strategy.

As DHSC puts it: ‘The role of the RDPB is to monitor what is being implemented in respect of the strategy and the role of RDAG is to make recommendations to NHS England on how the Strategy is implemented.’

Considering the potential conflict of interest of the RDPB, given that its membership is comprised of people from the organisations tasked with delivering the Strategy, one must question how effective this oversight and accountability can be. It is certainly crying out for a robust political role, for example, from the Health Select Committee or another cross party group to ensure progress is monitored and shortfalls are exposed.

Among the highlights of the DHSC’s commitments are;

•          The Rare Disease Policy Forum and a new digital platform for the Forum.

•          A new annual conference by the UK Rare Diseases Policy Board

•          The establishment of a task and finish group to improve the ‘diagnostic  odyssey’ of rare diseases patients.

•          An emphasis on the importance and potential of genomics.

Agreed targets: NHS England’s three main objectives

1. Facilitating earlier diagnosis

NHS England will implement wider genomic testing and additional genetic tests. It also plans to work with GP and nurse groups to increase awareness and improve knowledge of rare diseases.

On DHSC’s part, there is a welcome focus on the so-called ‘diagnostic odyssey’, with the aim of ‘understanding in detail the diagnostic pathway’ as the ‘first step in finding ways to improve diagnosis and subsequent early intervention’. Last year a diagnostic odyssey task and finish group was established to identify and describe the diagnostic journey of three disease case studies. It will report its initial findings later in 2018.

2. Improving care coordination

NHS England is to develop ‘rare disease inserts’, a set of criteria to sit alongside service specifications that will enable patients to hold providers to account for their care. It will insist for example that everyone has an assigned care coordinator. The intention of these inserts, and the related idea of ‘alert cards’ seem positive, and perhaps patient groups should suggest they are best placed to lead this project, ensuring they have the most useful information and that the most uncommon rare diseases are not forgotten.

3. Promoting research

 Though lacking information, the development and implementation of Rare Disease Collaborative Networks (RDCNs) could realise sizeable benefits for patients and the NHS. Anything that can be done to further direct the groundbreaking research from the 100,000 Genomes Project directly into frontline services and care will be of value.

Magic numbers…

The plans take steps for progress evaluation, with a set of measures, through regular stakeholder meetings and reporting to the RDPB. Critics have noted, however, that measures hold no specifics on appropriate standards or targets.

On care coordination, the measure against which NHSE claims it can be held accountable, in terms of delivering recommendations 8, 27, 33 ,47 and 51 of the strategy, are the number of rare disease collaborative networks endorsed and the number of rare disease collaborative centres endorsed.

But what number counts as good? There is no detail here or standard to reach for, which may not encourage much ambition.

Then there is the elephant in the room – is there any new money attached to these plans? Well yes, some. We know that the 100,000 Genomes Project is funded, then there is the £20 million Genomics Education Programme, and specialised services continue to receive a healthy share of the overall NHS budget, but none of these represent new money for new commitments. Significantly the number of conditions screened for at birth would most certainly make a big difference to rare disease diagnosis – but with no new money for the national screening programme, how many new conditions will pass the committee’s current criteria for screening cost effectiveness?

In this brave new world of innovation – stem cell treatments, multiple indication therapies and advanced technologies for complex diseases – the assessment system that evaluates costs and benefits of treatments available on the NHS is absolutely crucial. The only measure that NHS England is holding itself to account for delivering is whether a process is published. The current one, still intentionally referred to as ‘interim’ by Sir Andrew Dillon, is not yet fit for purpose and many of us are keen to help improve it quickly.

A progress report on the UK Strategy for Rare Disease is due and while we all want credit to be given where it is due, we will also be eagerly looking for some robust analysis of the milestones needed to meet the strategy’s ambition.