Long-awaited action on rare diseases.

Abstract

England's first Rare Diseases Action Plan, published on Feb 28 to mark Rare Disease Day 2022, was met with a mixture of hope and apprehension. Hope that the many people who suffer from individual rare diseases will benefit from faster diagnosis and increased support, but apprehension that much of what is promised will be a struggle to deliver given the strained resources of the National Health Service (NHS). Perhaps paradoxically, rare diseases are surprisingly common in totality: there are about 7000 rare diseases (including many rheumatic disorders, such as systemic lupus erythematosus, antiphospholipid disorder, myositis, and vasculitis) that affect more than 3·5 million people in the UK alone. But, individually, these disorders are incredibly diverse, making them difficult to diagnose and treat and also a challenge to research. A grouping approach might provide more leverage with regard to these diseases from a health systems perspective. Such a strength-in-numbers approach has been taken by the Rare Autoimmune Rheumatic Disease Alliance (RAIRDA), a collective of rheumatology charity organisations that aims to link clinicians and patient organisations to raise the profile of rare rheumatic diseases, influence policy, and guide research. Grouping might also counter some of the nihilism that exists around doing trials for rare diseases, as illustrated by the increasing use of platform trials and other innovative approval standards, although specific research suggestions of this sort were largely left out of the Action Plan. Faster diagnosis is a key priority identified by the new Action Plan. The report highlights the “diagnostic odyssey” that many patients experience, which can be fraught with unfruitful referrals, inconclusive tests, and often a wrong diagnosis or two. Even after diagnosis, access to specialist care can be a problem, with patients often forced to travel long distances to access specialist centres and treatment. This odyssey often comes at the cost of patients’ mental and physical health, and some patients might miss windows of opportunity for treatment—a particular concern given that 75% of these disorders affect children. Indeed, among the plan's top priorities is to improve access to existing technologies for neonatal screening, and a pilot programme that will screen the genomes of 100 000 newborn babies and track their health progress over time. This genomic approach allows for the detection of more genetic conditions—currently newborn babies in the UK are screened for only nine rare conditions (by blood-spot analysis), far fewer than in many European countries. If the pilot proves successful, tests will commence to assess how the screening pathway could be rolled out across the NHS. Improved speed is only one piece of the puzzle for improving care of patients with rare diseases. Personalised diagnosis is also paramount. Genetic Alliance UK has launched the Good Diagnosis report, in which they highlight the importance of improving health-care professionals’ awareness of rare conditions, to both address the need for diagnostic speed and better support patients. This includes providing accurate information about the patient's condition, even if that information is limited—a need that is echoed in the Action Plan with a call for the development of new digital educational resources. Without informed support, patients frequently resort to their own research, often resulting in consumption of unreliable information, and many are forced to be their own health advocates. This burden will hopefully be relieved by a Rare Conditions Good Diagnosis Patient Rights Charter, to be developed by Genetic Alliance UK in early 2022. But the real elephant in the room for improving care for rare diseases is funding. Last year, the UK Government announced that £340 million will be allocated annually to provide access to promising new drugs (for all diseases). This headline figure sounds impressive, but such a budget is soon overstretched considering the eye-watering costs involved in treating many rare diseases. The Action Plan also includes funding for other research and programmes, but the feasibility of delivering these objectives is far from certain in view of severe workforce shortages in the NHS. Indeed, the ambition of the Action Plan seems to echo the criticism levelled by the King's Fund on the UK Government's plans for the NHS's COVID-19 recovery—the expectation of “doing a lot more with only slightly more”. People with rare diseases rightly deserve to find themselves at the top of the health-care agenda for a change, and we remain hopeful that, despite the formidable challenges, this ambitious plan to improve their lives will prove successful. For more on bloodspot analysis see Int J Neonatal Screen 2021; 7: 15 For more on bloodspot analysis see Int J Neonatal Screen 2021; 7: 15