Government Publishes Rare Diseases Action Plan
The Government has published the first action plan to show how the Department of Health and Social Care and its delivery partners will implement the UK Rare Diseases Framework in England.
The plan was published on Rare Diseases Day, on 28 February 2022.
There are four key national priorities for patients with rare diseases:
- helping patients get a final diagnosis faster
- increasing awareness among healthcare professionals
- better co-ordination of care
- improving access to specialist care, treatment and drugs
Although each particular rare disease affects relatively few people, collectively they are very common. There are over 7,000 rare diseases, with 3.5 million people affected in the UK.
Just 5% of the rare diseases have a treatment. Indeed, many do not even have a diagnosis, which can be even harder for patients and their families to come to terms with.
Currently, healthcare professionals do not have sufficient training on each and every condition and patients do not have access to relevant specialists. People with rare diseases can have multiple appointments and referrals before getting a diagnosis, if indeed they get one at all.
The action plan was developed with the NHS and rare disease community. Participants included NHS England and NHS Improvement, the National Institute for Health and Care Excellence (NICE), Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council.
The action plan has 16 commitments to further improve care. These include achieving improvements with virtual consultations and to help patients see multiple specialists in one go; and spotting genetic conditions earlier during screening of new born babies.
Contained within the plan are the following:
- with improvements to new born screening to achieve earlier diagnoses, there is a research pilot using whole genome sequencing to screen for rare genetic conditions in healthy babies
- a new digital tool called 'GeNotes', to enable healthcare professionals to have better access to information on rare diseases
- supporting the access to new treatments for example through the Innovative Medicines Fund
- designing new approaches to caring for patients with undiagnosed rare conditions
- £40 million of new funding to the National Institute for Health Research (NIHR) BioResource, to further their work in characterising and understanding rare diseases
Professor Lucy Chappell, Chief Executive of the NIHR, comments: "The work of the NIHR’s BioResource has already helped produce some truly ground-breaking discoveries, such as those made through the 100,000 Genomes Project, and today’s significant new investment will ensure it remains at the cutting edge of the fight to understand rare diseases, and help the people who have them."
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."
The action plan applies to England. The devolved nations of the UK will publish their own action plans during the course of 2022.
Hear More About A Golden Age for Life Sciences Innovation
At the 2022 PING Conference on 20 June, we are going to hear about the UK's steps to lead the way in "The Golden Age of Life Sciences Innovation". Speakers include the new Chief Executive of NICE, Dr Samantha Roberts, who will be speaking about NICE's five year strategy for adopting new processes and adapting to changing times to stay at the forefront of assessments of innovative treatments. Andrew Roddam, the CEO of the exciting world-leading health data project, Our Future Health, will also talk about gathering and analysing data on five million people and the opportunities arising from this, to work towards achieving the holy grail of early diagnoses.