The United Kingdom has taken a big step in the right direction for rare disease patients, as they have recently created the UK Rare Diseases Framework. This framework is intended to improve the lives of those with rare conditions. Without technology, it would be unable to function. It relies heavily on advances in genomics and telemedicine in order to produce faster diagnoses and better treatment.
Creators of the framework have stated that it will bring the voices and experiences of rare disease patients to the attention of lawmakers, where they will shape government priorities and policies so that they best reflect the needs of patients.
Genomics
As part of the framework, the government has drafted a new genomics strategy in an effort to make a genomic healthcare system over the next ten years. Scientific and technological advances will allow for this system to deliver improved health outcomes for a lower price.
This new system has set a goal of analyzing five million genomes from the NHS and UK biobank. This will become routine care, allowing for the faster diagnosis of numerous conditions, many of which are rare conditions.
One of the major purposes of this system is to quicken the diagnostic process. Current and future advances in genomics will lead to better screening, including improvements in the identification of those who should undergo advanced genetic testing.
Non-genetic rare disorders will see an improvement in their diagnostic process as well under the new framework.
New Technology
In order to improve the lives of rare disease patients, the framework sets a number of priorities. These include better coordination of care, more use of digital tools and genomic testing, and increased awareness. Technology is being used to meet these priorities.
Telemedicine, alert cards, video appointments, and virtual team meetings are all improving care coordination, and they can also make life easier for the patient. Because the pandemic has forced people to turn to virtual meetings and work online, there is already an infrastructure in place for this technology. This gives healthcare professionals something to build on.
Creators of the framework wanted technology to make the treatment process more efficient, improve the patient experience, and support future research. They hope that their framework will give rare disease patients increased access to care and treatment.
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