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Tech key to improving lives of people with rare diseases, says government report

The UK Rare Diseases Framework will build on advances in genomics and data analysis to improve testing and diagnosis

The government has published a UK Rare Diseases Framework, aiming to improve the lives of people living with rare diseases.

The framework sets out how, through the help of technological advancements, earlier and more precise diagnosis can be made, which can be of huge benefits to patients.

Getting a final diagnosis, particularly for rare conditions, can be a long journey, but the government framework said that advances in genomics and data analysis can speed up process, ensuring it is more efficient and the patient experience is improved.

Launching the framework together with health secretary Matt Hancock, health minister James Bethell said he wants the experiences of those living with rare diseases to shape government priorities and ensure any government policies work for them.

“We can harness the potential of new technologies, including genomics, to support earlier detection and faster diagnosis of disease, tailor and target treatments,” he said.

“With such a vast range of rare diseases out there, it is hugely important the rare disease community was at the centre of designing the UK Rare Disease Framework.”

Genomics at the heart                                           

In September 2020, the government published a new genomics strategy, which aims to use the next 10 years to create a genomic healthcare system that will be underpinned by scientific advances to deliver better health outcomes at a lower cost.

This includes an aim of analysing five million genomes, including sequencing one million whole genomes from the NHS and the UK biobank, making it part of routine care.

“Already NHS England and NHS Improvement is successfully using whole exome sequencing tests to rapidly diagnose rare diseases in critically ill babies and children, a test which has been shown to double the chance of diagnosis,” the rare diseases framework said.

The framework sets out a number of priorities, including helping patients get a final diagnosis faster.

“Advances in genomics and diagnostic services have allowed us to make significant strides towards shortening the diagnostic odyssey for many rare disease patients,” the framework said.

“In the future, we expect that new, validated genomics approaches and diagnostic tools will contribute to further improvements in diagnosis and screening, including improved recognition of which patients should undergo advanced genetic testing.”

The government also aims to support patients with non-genetic rare diseases, as well as those treating them, to get a diagnosis as quickly as possible.

“We must ensure diagnosis rates continue to improve, including utilising advanced diagnostic technologies and tools where possible,” it said.

Using technology to improve care

Other priorities include increasing awareness of rare diseases and the use of genomic testing and digital tools among healthcare professionals, as well as better coordination of care.

“The use of virtual multidisciplinary team meetings, telemedicine, video appointments and alert cards are starting to be implemented across some rare disease services and are all great examples of using technology to support better care coordination,” the framework said.

“The Covid-19 pandemic has necessitated the use of more virtual appointments, and there is great potential to build on this infrastructure going forward, while considering the implications of digital inequalities.”

It added that the use of video conferencing and telemedicine have the potential to “significantly reduce the burden” on patients and families who often have to travel across the country for appointments.

For healthcare professionals, digital and online resources already provided by some patient organisations could also be helpful in understanding how best to care for a rare disease patient, the framework said.

Technology and data is one of the key pillars of the framework, and the government aims to utilise “the benefits technology can bring to rare disease patients and consider how digital tools could be appropriately used to improve efficiency and patient experience and support research”.

“Effective data interoperability and the ability to easily share and access patient data and registries will also be important for supporting multidisciplinary teams discussing patient care and researchers developing new treatments,” the framework said.

Hancock said that people with rare diseases deserve to get the “best possible access to care and treatment”.

“The UK Rare Diseases Framework has been developed in close collaboration with people with a lived experience. It will build on the UK’s exceptional strength in life sciences, our genomic capability, and of course the huge benefit of having the NHS, to shape our policies on rare diseases in the years to come and improve the lives of so many people,” he said.

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