Alastair Whitington reports from the Westminster Health Forum on rare diseases and specialised commissioning in England
The Westminster Health Forum, Rare Diseases and Specialised Commissioning in England—Genomics, Research, and Access to Medicines, was held on 9 January 2020 at The Caledonian Club, London.
Implementing the Strategy for Rare Diseases
Professor Dame Sue Hill, Chief Scientific Officer, NHS England, reported progress in implementing the 2013 UK Strategy for Rare Diseases, in which the four countries of the UK made 51 commitments to be achieved by 2020 across five areas of work:1
- empowering those affected by rare diseases
- identifying and preventing rare diseases
- diagnosis and early intervention
- coordination of care
- the role of research.
Professor Hill reminded the conference that a rare disease is one that affects fewer than one in 2000 of the general population.2 One in 17 of the population will have a rare disease at some point in their life, equating to a total of 3.5 million patients in the UK living with one of 6000–8000 rare diseases.2,3 Seventy-five percent of rare diseases affect children, many of whom will transition to adult services.4
One in 17 of the population will have a rare disease at some point in their life …
Central to the government’s policy for improving research and treatment into rare diseases is the 100,000 Genomes Project,5 which has collected 122,395 samples and sequenced 112,198 genomes, three-quarters of which are of relevance to rare diseases. The NHS Genomic Medicine Service has adopted a national approach,6 which has enabled:
- common national standards, specifications, and data collection
- a consolidated genomic laboratory network to rapidly adopt technology
- single national testing
- a national genomic knowledge base
- single oversight and coordination.
The 100,000 Genomes Project is starting to deliver benefits, including:
- increased understanding of the risks of child being born with a rare disease
- development of personalised diagnoses and treatments.
A number of next steps were identified for delivering specialised services for rare diseases, such as:
- creation of centres to provide a multidisciplinary approach
- commissioning of treatments for rare diseases
- development of an appropriate tariff.
From 2020, Health Education England will start developing programmes to deliver a genomics workforce with the skills and competencies to meet the rapidly changing world around genomics.
Access to medicines for rare diseases
Angela McFarlane, Senior Market Development Director, IQVIA, reported that, whereas historically few treatments have existed for rare conditions, the number of orphan medicinal products has grown considerably over the last decade. Consideration needs to be given to improving the timeframe for approval of these new medicines, and developing alternative approaches to the assessment and commissioning of drugs for rare diseases. However, with NICE a global leader in taking real-world data into account, the UK is well placed to pioneer new approaches in this field.
… whereas historically few treatments have existed for rare conditions, the number of orphan medicinal products has grown considerably over the last decade.
Helen Knight, NICE Programme Director, Technology Appraisals and Highly Specialised Technologies, advised that access should improve given NICE’s intention to review all medicines (not just cancer medicines) within 90 days of marketing authorisation. NICE will also consider whether the assessment process needs to be reviewed in light of children’s medicines and gene therapy.
NICE will … consider whether the assessment process needs to be reviewed in light of children’s medicines and gene therapy.
The government’s manifesto pledge to increase funding for innovative medicines was welcomed.
Priorities for further improvement
The UK Strategy for Rare Diseases1 has started to deliver improvements for patients, but needs to be built upon through:
- further development of networks, both for research and coordination of care between providers
- provision of care closer to home
- management of the transition from child to adult services
- improved patient information and support.
In addition, growth in the number of new medicines will necessitate increased funding to improve the infrastructure associated with their delivery.
This conference report was prepared by Specialised Medicine and the speakers have not had the opportunity to make corrections.
- DH. The UK strategy for rare diseases. London: DH, 2013. Available at: assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/260562/UK_Strategy_for_Rare_Diseases.pdf
- Findacure. Rare diseases. www.findacure.org.uk/rare-diseases/ (accessed 4 February 2020).
- Rare Disease UK. What is a rare disease? www.raredisease.org.uk/what-is-a-rare-disease/ (accessed 4 February 2020).
- Eurordis. What is a rare disease? Paris, France: Eurordis, 2007. Available at: www.eurordis.org/sites/default/files/publications/Fact_Sheet_RD.pdf
- Genomics England. The 100,000 Genomes Project. www.genomicsengland.co.uk/aboutgenomics-england/the-100000-genomesproject/ (accessed 4 February 2020).
- Genomics England. NHS Genomic Medicine Centres. www.genomicsengland.co.uk/aboutgenomics-england/the-100000-genomesproject/genomic-medicine-centres/ (accessed 4 February 2020).