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Millions of people with rare diseases to benefit from faster diagnosis

England’s first Rare Diseases Action Plan has been published to mark Rare Disease Day 2022

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Rare disease action plan day 2022

Millions of patients with rare diseases will benefit from faster diagnosis and better treatment as Health Secretary Sajid Javid announces England’s first Rare Diseases Action Plan.

To mark, Rare Diseases day which falls on the February 28, Health Secretary Sajid Javid has announced an action plan aimed at committing research and funding to improve the diagnosis. The Action Plan will also help increase the ability to diagnose genetic conditions during the screening of newborn babies.

Part of the plan involved increasing access to and funding for new technology which can diagnose adults and newborns with diseases such as muscular dystrophies, faster and at a younger age. This includes 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.

It will also include the introduction of a new digital tool called ‘GeNotes’, which will allow healthcare professionals to quickly access information on rare diseases to improve diagnosis so they can provide the right care for their patients. The plan also calls for a toolkit for virtual consultations to be developed to increase the effectiveness of videoconference and telephone clinic calls. This would make it easier for patients to coordinate care between multiple specialists without the need to travel long distances.

The government will also continue investing in the development of nucleic acid therapies, for example, through the world-class Gene Therapy Innovation Hubs and the Nucleic Acid Therapy Accelerator. The uptake of drugs by patients with rare diseases will also be monitored by measuring the number accessing a drug and comparing it with the number expected to access it. This will ensure equal access to treatment across the country.

Rare diseases day 2022

Health and Social Care Secretary Sajid Javid said: “This action plan will speed up diagnoses and care and allow our fantastic workforce to better support patients, by drawing upon the UK’s world-leading science and technology.

“I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”

There are currently more than 7,000 rare diseases affecting an estimated 3.5 million people in the UK. Their complex nature means it is difficult for healthcare professionals to receive training on every condition or for patients to access the relevant specialist. Genetics plays a role in over 80 per cent of all rare diseases meaning genomics can be vital in delivering faster and more accurate diagnoses, as well as more effective treatments.

Minister for Patient Safety and Primary Care, Maria Caulfield said: “People with rare diseases deserve the best care and treatment. Marking Rare Disease Day 2022 by publishing England’s first Rare Diseases Action Plan is a significant step in supporting people with rare diseases to access even better-coordinated care and treatment.

“We have listened carefully to people living with rare diseases to make sure their needs and priorities are placed at the heart of this plan. We will continue to work closely with the rare disease community over the coming year to develop this even further.”

Patients living with conditions such as muscular dystrophies or Huntington’s disease can go through multiple appointments and referrals before a diagnosis is made due to the complexity of the conditions. This has a huge effect on the lives of patients and their families when it comes to coordinating their care. It is estimated that one in 17 people will develop a rare disease at some point in their lives.

Professor Dame Sue Hill, Chief Scientific Officer for England, said: “With genetics playing a role in over 80% of all rare diseases, genomics can be vital in delivering faster and more accurate diagnoses, as well as more effective treatments. The NHS Genomic Medicine Service is therefore key to helping more patients get the right treatment quicker and supporting this new action plan.

“The NHS already tests for more than 360 rare and inherited signs of illness covering around 3,200 rare diseases and 203 cancers though our National Genomic Test Directory, and despite the pandemic, has continued to secure new, innovative and life-changing medicines to help people with rare and genetic conditions, including one-shot gene therapies, transforming their lives.”

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