Rare Disease Day is taking place today, Monday 28 February 2022, and is an important opportunity to support people living with rare or undiagnosed conditions, and to take stock of the UK’s progress in facilitating better diagnostic approaches, charity funding and legislation to improve outcomes.

On Rare Disease Day, 106 countries worldwide host more than 600 events to draw attention to these conditions and patients. Around 300 million globally are living with rare or undiagnosed disease. “Although they can be life-limiting, life-threatening and disproportionately affect children, weaknesses in the provision and coordination of services have persisted for many years”, says Public Policy Projects.

The UK’s legislative steps

In 2013, the Department for Health and Social Care drew up a UK strategy for rare diseases that identified key shortcomings in the UK’s response to patient needs. The Rare Disease Framework is a crucial piece of legislation that was published in January 2021 and sets out the four following objectives: helping people get a final diagnosis faster; increasing awareness among health professionals; coordinating care better; and improving access to specialist care, treatment and drugs.

New treatments, setting research priorities, new-born screening, service commissioning and data usage to improve outcomes are among the key action points that are focussed on within the Framework and the efforts of charities.

The fundamental role of diagnostics

Having an early diagnosis of a rare disease is vital for rapid access to treatment, specialist care and a potential reduction of harm to the patient. A diagnosis is necessary for a prognosis to be clarified for a patient, allowing them to understand the implication of their illness on their future life plans, finances etc. According to the PPP report, “forty-five per cent of the final diagnoses came from a doctor who specialised in that condition, highlighting the importance of patients being channelled into the correct pathway”.

Accurate diagnosis avoids inappropriate treatment being provided to a patient, and there are cases of patients with physical conditions being misdiagnosed with mental disorders. Even when a broad diagnosis is given “it may take several more years to identify precisely the nature of the disease”.

Undeniably, there is huge value to a patient and their family in having a diagnosis reached, even when there is no specific treatment for their disease. This validates the suffering of symptoms, often over a long period of time, and allows them to seek out support from others living with the same condition.

BIVDA’s work to advance action on Rare Diseases

BIVDA, as part of the APPG for Life Sciences secretariat with BIA, ABPI, organised a joint event with the APPG for Rare, Genetic and Undiagnosed Conditions on the implementation of the ‘UK Rare Diseases Framework’ and the adjustment of this legislation in relation to patient needs and greater understanding of rare diseases.

Various MPs and stakeholders attended the online event. Speakers included Liz Twist MP (Chair of the APPG for Rare, Genetic and Undiagnosed Conditions), Nick Meade (CEO of Genetic Alliance UK), Jon Neal (Managing Director of Takeda UK) and Victoria Barret (Head of HTA and Market Access at ABPI).

On Rare Disease Day, Sajid Javid has England's first Rare Diseases Action Plan which makes much-needed promises on digital tools, improved diagnostics and novel treatments for these conditions. The plan also includes improvements to newborn screening so diagnoses can be made earlier, including a new research pilot using whole genome sequencing to screen for rare genetic conditions in healthy newborns, and improvements to the way the UK National Screening Committee makes decisions on rare diseases. The plan will also usher in the development of a toolkit for virtual consultations to increase the effectiveness of videoconference and telephone clinic calls, making it easier for patients to coordinate care between multiple specialists without the need to travel long distances. 

The BIVDA policy team will be closely monitoring the implementation process of the Framework, and Doris-Ann is part of the Rare Diseases Coalition. The Coalition features experts from across the UK, and provides a broad view of how to implement the framework.