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On 23 March 2020, the UK entered its first national lockdown as a result of the COVID-19 pandemic. At that point, none of us could have imagined how long it would last or the long-term impact on our health and social care services. But for a snapshot of time during the enforced lockdowns, we understood the fear, isolation and lack of access to key services that those living with a rare condition experience daily. However, for most of us, life returned to normal. We returned to work and school, we socialised again, and we left the fear behind when the vaccine made the world “safe” again. Three years on from that first lockdown, I ask whether policymakers have learned the lessons that will bring patients with rare disease into the light.

The ARDEnt report

There is no doubt that the impact of COVID was felt across society; however, people living with rare and undiagnosed conditions and those who support them were perhaps impacted more than most. The report “Making the Unseen Seen”, published by Action for Rare Disease Empowerment (ARDEnt) in 2021,¹ aimed to highlight the unseen impact of the pandemic on those living with rare conditions. The intention behind the report was to ensure current services were maintained and provide learnings for policymakers and service providers alike. In her foreword for the report, Nicola Miller stated: “The inordinate strain on health and social care systems has meant that almost overnight those living with rare and complex health conditions felt set adrift.”

The ARDEnt report made a number of recommendations that were essential during the pandemic to improve care for people living with rare conditions and these recommendations remain relevant to ensure we optimise the delivery of care today.

Optimising remote consultations

A key recommendation within the report, aimed at reducing the diagnostic odyssey exacerbated by the pandemic, was the optimisation of remote consultations. Such technology has advantages in rare diseases where people are often required to make numerous, long journeys to specialist centres to access care. Providing remote access to multi-disciplinary teams can provide an opportunity for improved care pathways and care coordination. However, progress in this area appears to have been limited. Within the rare disease action plans of the four UK Governments, only the English plan delivered a tangible action on telemedicine. In 2022 a toolkit was launched to support the use of videoconferencing and telephone clinics for people living with complex, rare conditions being managed within highly specialised services.²

The idea that people within the rare disease community could return to life as normal, the way many of us have, is unrealistic and therefore drawing on the use of improved technology and learnings from remote consultations that became routine during lockdown is essential. It is likely that there will be pockets of excellence spread across healthcare providers, where some people living with rare conditions are served well by remote consultation; however, without this being embedded into policy and delivered at a national level we are failing to make this the norm for those who need and want this approach to care.

Identifying undiagnosed rare disease patients

Further highlighting the impact on diagnosis for those with rare conditions, the report called for healthcare services to “proactively seek out the undiagnosed”, creating plans to address the investigation and referral backlog. It is therefore worrying to read that many of the issues surrounding referrals and access to consultant-led care and diagnosis highlighted within the report are still present today. A recent report by the British Medical Association (BMA) suggests that more people in the UK are waiting for routine consultant-led hospital care than at any time in the past 15 years, with waiting times stretching to more than a year in some cases.³

Initiatives such as the Newborn Genomes Programme in England, which will screen 100,000 newborn babies for specific treatable rare conditions, and the development of the Welsh SWAN Clinic, offering a “one-stop” shop for people in Wales living with complex, undiagnosed medical conditions, are critical in reducing the diagnostic odyssey that is inherent in rare diseases. These initiatives provide opportunities for learning and the development of best practice; however, without adoption of such initiatives at a UK-wide level, we potentially leave our rare community “adrift”.

Accessing treatment

For those lucky enough to receive a diagnosis and access specialist services, the pandemic created problems in accessing life-saving treatment and ongoing research to find new treatments. The ARDEnt report highlights data that suggest the clinical development of new treatments for rare conditions could have been set back years by the pandemic. The report recommended the need to consider decentralising clinical trials with the opportunity to have home monitoring as well as the use of real-world evidence included within the data collection plans. It is therefore reassuring to see the announcement on 21 March of the biggest overhaul of clinical trials in the UK for decades.⁴ Following a period of consultation, the UK Government has announced major changes to the way the Medicines and Healthcare Regulatory Agency (MHRA) will work with system partners and the clinical research sector “to maximise the potential to accelerate innovations”. The new reforms are intended to ensure patient safety remains at the heart of the clinical trial environment, while bringing innovative technologies to patients far more quickly. The new approach will seek to ensure “legislation is… responsive to different types of trials and innovative ways of carrying out trials”. They acknowledge that these reforms are just the beginning and a stepwise approach will seek to involve the use of real-world evidence and new approaches to data collection and analysis. 

However, what is less clear is how this new approach will integrate with the current systems for appraising the medicines and making them routinely available within the UK. The National Institute for Healthcare Excellence (NICE) in England and the Scottish Medicines Consortium (SMC) in Scotland appraise new medicines and determine if they present value for money to our healthcare systems. One of the biggest challenges facing the development of orphan medicines is the lack of robust clinical and cost-effectiveness data, creating high levels of uncertainty for those charged with decisions about reimbursement. It is therefore not clear how medicines that are being accepted, perhaps more rapidly through a revised regulatory system that plans to accept new and innovative approaches to data collection, will then have sufficient data to overcome the uncertainty needed to satisfy reimbursement committees.

Are we in a better place?

So, have the concerns raised by ARDEnt been addressed? Are we in a better place than we were three years ago? If we were faced with another pandemic tomorrow, would things be any different for our rare community? My simple answer to these questions is no. We have made progress; we are seeing pockets of excellence springing up, but without a joined-up approach to delivering these services at a policy/national level it is unlikely that another ARDEnt report would find things to be very different.

A follow-up to ARDEnt, with analysis of where changes have been made in direct response to the recommendations within the first report, would provide an opportunity to hold policymakers’ “feet to the fire” and advocate the need for ongoing work. The next pandemic is not just a movie on Netflix or Amazon but a looming reality that has the potential to set back our rare community decades if we don’t do something different now!

About Michelle

Michelle Conway trained as a nurse, before moving from the NHS to the pharmaceutical industry, where she took up a role as a nurse specialist. Michelle discovered a passion for rare disease when working with a biotech organisation to launch a product for an ultra-rare disease. She then supported the company with the launch of several ultra-orphan medicines. 

With experience across multiple roles in the biotech and pharmaceutical industries, Michelle has expertise in market access and policy work. Michelle supports projects requiring expertise and knowledge about the challenges of access and policy for medicines for rare cancers and orphan medicine launch-planning. 

crdconsulting.co.uk

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