Patients with rare diseases
A Westminster Hall debate has been scheduled for Thursday 9 March on patients with rare diseases. The debate will be opened by Jim Shannon MP.
A rare disease is generally considered as one affecting fewer than 5 people in 10,000. While the occurrence of individual rare diseases is low, it has been estimated that around 3.5 million people in the UK are living with one of over 7,000 rare diseases, such as muscular dystrophies or Huntington’s disease. Rare diseases also disproportionally affect children; according to the Department of Health and Social Care "75% of rare diseases affect children and more than 30% of children with a rare disease die before their fifth birthday".
Due to the fact that relatively small numbers of people are affected by a particular condition, people living with rare diseases often face complex journeys to diagnosis and access to appropriate services and treatments.
The first Rare Diseases Action Plan for England was published on 28 February 2022, to mark International Rare Diseases Day. A second annual action plan was published at the end of February 2023, to report on progress and propose updated and new actions (see Written Statement, England Rare Diseases Action Plan, 28 February 2023).
Liz Twist MP Chairs the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions. There are a large number of charities for patients with individual rare conditions and Rare Diseases UK campaigns on behalf of all patients with rare diseases.
Commissioning health services for rare diseases
While NHS England commissions most specialist services for patients with rare diseases, NHS Integrated Care Boards (ICBs) commission some secondary care services for these diseases, with the division of responsibilities and proportion of funding between the local and national NHS likely to vary considerably between different rare conditions. ICBs have a statutory responsibility to commission services which meet the needs of their local population. NHS funding for particular areas, such as the treatment of rare diseases, are not generally ring-fenced. Expenditure on specific conditions is determined by the local clinical priorities set by the ICBs themselves.
Research into rare diseases
The Department of Health and Social Care (DHSC) funds research into all diseases via the National Institute for Health and Care Research (NIHR). Within the NIHR, for all disease areas, the amount of funding depends on the volume and quality of scientific activity and the usual practice is not to ring-fence funds for particular topics. DHSC does not generally ring-fence funding for the treatment of rare diseases. The National Institute for Health and Care Excellence (NICE) has responsibility for the evaluation of selected high cost, low volume drugs under its Highly Specialised Technologies Programme.
In September 2022 the Medical Research Centre (MRC) and NIHR launched a new UK Rare Disease Research Platform. The platform brings together challenge-led thematic nodes, with a central hub to support networking and activities that enable research. A total of £12 million is available to fund up to 10 nodes over 5 years. Outcomes of the call for funding applications are expected in April 2023.
The Government also note that many of the £790 million NIHR biomedical research centres include a focus on rare disease research (see DHSC press release, 28 February 2023)
Rare Diseases Action Plan for England
The Government published what it described as the first England Rare Diseases Action Plan on 28 February 2022 - international Rare Disease Day. This follows the UK Rare Diseases Framework published in January 2021, which set out priorities for all four UK nations to speed up diagnosis, raise awareness of rare diseases among healthcare professionals, provide better coordination of care, and improve access to specialist care, treatment and drugs.
In a Written Statement announcing the 2022 Action Plan the Government noted that it had been developed with the health sector, “and in close consultation with members of the rare disease community”. It also said that over the course of the coming year, the Government will monitor progress, “seeking input from those living with rare diseases”.
The 2022 Action Plan sets out a number of aims, including:
- making it easier for more rare disease patients to access the coordinated care of multiple specialists without the need to travel long distances
- developing improved new-born screening so diagnoses can be made earlier, and patients can benefit from new therapies as they become available
- ensuring all healthcare professionals are aware of rare diseases and know where to go to access further information and advice
- supporting rapid and affordable access to cutting-edge therapies across all regions of England.
Announcing the 2023 Action Plan, the Government noted the following key achievements in the last year:
- changes to the UK National Screening Committee to support decision making within the constraints of more limited evidence on rare diseases, to help improve how decisions are made on new-born screening;
- public engagement to support design of a whole genome sequencing research study embedded in the NHS to screen for up to 200 rare genetic conditions in new-borns;
- identification of over 1,000 new, complex diagnoses for people with rare diseases, via the Genomics England Clinical Research Interface, to inform the most appropriate clinical care;
- expansion of digital educational resources for healthcare professionals on rare diseases;
- creation and rollout of a toolkit for virtual healthcare consultations, to improve care coordination for patients with complex, multi-system rare diseases;
- recruitment of over 2,500 new volunteers to the National Institute for Health and Care Research (NIHR) BioResource, to increase scientific understanding of rare diseases and facilitate improved diagnostics and treatments;
- the MELODY COVID-19 study, which allowed people to participate from their own home and informed targeted treatment policies.
[see Written Statement, England Rare Diseases Action Plan, 28 February 2023]
The 2023 Action Plan lists 13 actions focussing on faster diagnosis, increased awareness of rare diseases among healthcare staff, better coordination of care and improved access to specialist care, treatments and drugs. New commitments include an action to review the effectiveness of schemes to improve early access to innovative treatments for people with rare diseases, including the Innovative Licensing and Access Pathway (ILAP), the Early Access to Medicines Scheme (EAMS) and the Innovative Medicines Fund (IMF).
Stakeholder responses to the Action Plan
The DHSC press release announcing the 2023 Action Plan quoted Louise Fish, Chief Executive of Genetic Alliance UK:
“The UK Rare Disease Framework set out a great set of aspirations to improve the lives of people living with rare conditions, and we welcome this second annual action plan setting out the practical steps that will be delivered this year.
We are particularly pleased that National Institute for Health and Care Research funding will be awarded in autumn 2023 to develop the evidence base needed to operationalise better coordination of care in the NHS. Many rare conditions are life-long and complex, and we know from listening to people living with rare conditions and their families that well-coordinated care makes a real difference to their quality of life.”
In response to the 2023 Action Plan, Paul Catchpole of the Association of the British Pharmaceutical Industry (ABPI) said that the plan “demonstrates good progress in supporting patients with rare diseases particularly investment in Biomedical Research Centres, support for NHS research data infrastructure, and the use of genomics for diagnosis.”
Rare diseases action plans have been published in Scotland, Wales and Northern Ireland – these national plans support the shared priorities of the UK-wide 2021 Rare Diseases Framework. Further background can be found in the Library debate briefing, Implementation of the UK Rare Diseases Framework (23 March 2021).
Parliamentary material
Rare Diseases: Medical Treatments | 02 Mar 2023 | Written questions | Answered | House of Lords | HL5711
Life Sciences: Research | 27 Feb 2023 | Written questions | Answered | House of Lords | HL5712
Rare Diseases: Children | 12 Jan 2023 | Written questions | Answered | House of Commons | 113400
Rare Diseases: Drugs | 20 Dec 2022 | Written questions | Answered | House of Lords | HL4231
Rare Diseases: Education and Training | 20 Dec 2022 | Written questions | Answered | House of Lords | HL4229
Rare Diseases: Diagnosis | 20 Dec 2022 | Written questions | Answered | House of Lords | HL4191
Rare Diseases: Health Services | 20 Dec 2022 | Written questions | Answered | House of Lords | HL4190
Rare Diseases: Health Services | 15 Dec 2022 | Written questions | Answered | House of Lords | HL4186