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Rare Diseases Q1 2021

Collaboration is crucial now and after COVID-19

Hannah © Ceridwen Hughes : Same but different

Jayne Spink

Chief Executive Officer, Genetic Alliance UK

During the pandemic, people affected by genetic, rare and undiagnosed conditions have been living under immense pressure. Across Europe, specialist care has been disrupted for nine out of 10 rare disease patients.

Barriers to critical services such as health and social care, home care, education and respite have had profoundly negative impacts. Shielding and self-isolation have amplified the existing isolation and anxiety already felt by so many. This has been compounded by uncertainty over vaccination timing.

With light at the end of the tunnel in the form of vaccines, it’s time to consider what opportunities there might be to redress the balance and to accelerate improvements in care and treatment for those with rare conditions.

Learning lessons from the pandemic

The pandemic underlines the importance of genomic medicine, demonstrating the power of genomics to tackle significant health challenges and support innovation. It is now critical to ensure that genomic medicine delivers improvements in early rare disease diagnosis and that a premium is placed on delivering the insights needed to drive and support research.

During COVID-19, many rare disease patients had access to remote care or telemedicine for the first time. Judiciously used, telemedicine could help to relieve the burden of care coordination carried by patients and families. There are clear opportunities to reduce the expense, disruption and effort of travelling to appointments, while providing easier and timely access to medical advice that could significantly benefit clinical care and research.

Less than 5% of the more than 6,000 rare diseases currently have an available medicine.

Collaboration helps address unmet needs

Although tremendous progress has been made in the last decade, less than 5% of the more than 6,000 rare diseases currently have an available medicine, and less than 1% have treatments that might be considered curative.

The approach to rapid development and deployment of COVID-19 vaccines has clearly demonstrated the potential to sweep aside traditional silos and potential to accelerate development through greater acceptance of financial risk. Collaborative and rapid innovation is the solution to meeting the poorly recognised crisis of unmet need for rare disease patients.

Using community insight for progress

Generating insights into the rare disease patient experience is challenging – success comes from tapping into the insights of the community, patients and families, voluntary groups and charities and working in partnership. Underpinning pandemic research is the availability of good quality data on prevalence, symptoms and impacts of COVID-19 – the kind of data that is generally lacking for most rare diseases.

The pandemic has shown that multi-stakeholder collaboration and incentivisation are the dual keys to success. The greatest pity for the rare disease community would be to emerge from the pandemic to a restoration of the pre-pandemic status quo.

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