UK rare diseases framework to use digital tech and data

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

This framework aims to identify diseases earlier and make a more precise diagnosis with the help of technological advancements. This could be a huge step in medicine and the care of patients. The government framework declared that advances in genomics and data analysis will be able to speed up the process, all the while making it more efficient and improving the patient experience.

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

The health secretary and health minister stated that they want to make this framework a priority.
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They are also determined to create a genomic healthcare system in the next ten years that will be using scientific advances to deliver better health outcomes at a lower cost. This system will also include analyzing five million genomes.

The government seeks to support patients with non-genetic rare diseases, as well as those treating them, to get a diagnosis as quickly as possible. To successfully do this, there must be improvements in diagnosis rates and more advanced diagnostic technologies and tools as possible.

Moreover, the government aims to enhance the use of digital tools among healthcare professionals, in order to better coordinate care and improve care services. Having virtual multidisciplinary team meetings, telemedicine, video appointments, and alert cards could help support better care coordination, reduce travel for patients and families, and deliver the best care possible.

Using technology and data is one of the key points of the framework, and it is determined to use the benefits of technology and digital tools to improve efficiency, patient experience, and support research. Being able to share and access easily patient data and registries will definitely become important in order to support multidisciplinary teams discussing patient care and researchers developing new treatments.

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