UK Rare Diseases Framework

UK Rare Diseases Framework [Policy paper]
DHSC 9 January 2021

• The UK Rare Diseases Framework lists the priorities and underlying strategic themes that detail how the UK will address the challenges faced by those living with rare diseases.
• The UK Rare Diseases Framework outlines 4 high-level priorities for rare diseases in the UK over the next 5 years:
• helping patients get a final diagnosis faster
• increasing awareness of rare diseases among healthcare professionals
• better coordination of care
• improving access to specialist care, treatments and drugs

NCARDRS congenital anomaly statistics: annual data

NCARDRS congenital anomaly statistics
PHE updated 12 August 2020

• The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) reports  give estimates of the national prevalence of congenital anomalies including structural, chromosomal and genetic anomalies.
• These reports present data collected since 2014.

The rare reality of COVID-19

The rare reality of COVID-19
Genetic Alliance 2 July 2020

• People living with rare conditions have been placed under immense pressure by the Covid-19 pandemic. Access to appropriate support, information, care and treatments has become more difficult and levels of social isolation have been increased. This report presents findings from the EURORDIS Rare Barometer Covid-19 Experience Survey, and from Generic Alliance weekly community meetings during the months of April, May and June 2020.

Rare Diseases Advisory Group (RDAG): Terms of reference

Rare Diseases Advisory Group (RDAG): Terms of reference
NHS England 10 March 2020

• Terms of reference for the Rare Diseases Advisory Group (RDAG).

UK strategy for rare diseases: 2020 update to the implementation plan for England

UK strategy for rare diseases: 2020 update to the implementation plan for England
NHS England 26 February 2020

• This year’s update on the strategy’s progress over the last year covers 5 main areas: empowering those affected by rare diseases, identifying and preventing rare diseases, diagnosis and early intervention, coordination of care and the role of research.
• It also sets out the actions that DHSC and partner organisations will take in 2020 to implement the commitments of the strategy.

Fixing the present, building for the future: newborn screening for rare conditions

Fixing the present, building for the future: newborn screening for rare conditions
Genetic Alliance 24 July 2019

• This report presents the evidence around newborn bloodspot screening and gives views of people living with rare and genetic diseases. It contains recommendations to adapt decision-making to fit rare diseases, to embrace the potential of screening as a rare disease identification system, and to take advantage of developments in technology.

Genome Sequencing and the NHS: The views of rare disease patients and carers

Genome Sequencing and the NHS: The views of rare disease patients and carers
Genetic Alliance 18 July 2019

• Report of a survey to capture the views of patients with a rare or undiagnosed condition and their carers to help inform the implementation of the 100,000 Genomes Project.

Implementation Plan for the UK Strategy for Rare Diseases and progress report

Implementation Plan for the UK Strategy for Rare Diseases
NHS England 29 January 2018

• The Plan sets out NHS England’s proposed actions against all of the commitments in the Strategy for which it has a lead responsibility. In particular, the Plan aims to address the following three objectives: 
• Facilitating earlier diagnosis and intervention.
• Improving care coordination. 
• Promoting research.
• Of particular note are the following key actions:
• The continuing progress of the 100,000 Genomes Project and the concurrent development of a genomic testing strategy that will underpin the development of a new genomic medicine services for the NHS
• The development of a set of criteria that will allow NHS England to hold providers to account for the way in which they treat patients with rare diseases via a rare disease ‘insert’ to the standard NHS Contract
• The development of Rare Disease Collaborative Networks. These will be groups of providers who have a demonstrable research-active interest in a rare/very rare disease, with the aim of improving patient outcomes

Implementation Plan for the UK Strategy for Rare Diseases; progress report

NHS England 11 July 2019

• This update reviews progress against the dashboard of performance measures set out in the Plan and is in the order set out in the Plan for ease of reference.

NHS insert - rare disease "alert card"

NHS insert
Extract from: We need national debate on rare diseases to offer the best possible care
Speech by Baroness Blackwood at the British Paediatric Surveillance Unit rare disease summer tea party at the Royal College of Paediatrics and Child Health, 10 July 2019
NHS Insert
"Another very exciting initiative I want to share with you is the NHS insert, which I announced in February and the NHS are now implementing. The insert gives NHS England a way to hold providers to account and improve services for rare diseases. I have met with NHS England just this week, who have assured me that the insert has been included and will be monitored through the Quality Surveillance Systems, with trusts reporting on it for the first time this September.

There will be up to 3 criteria providers report on:

• care co-ordination
• an alert card
• transition

Let me explain these each in turn.

Firstly, the provider must ensure that there is a person responsible for co-ordinating the care of any patient with a rare disease. Secondly, the provider must give every patient with a rare disease an ‘alert card’. This will include information about their condition, treatment regime and contact details for the individual expert involved in their care. Finally, the provider must ensure that every child has an active transition to an appropriate adult service, even if that adult service is not the commissioning responsibility of NHS England."

See
Implementation Plan for the UK Strategy for Rare Diseases, NHS England January 2018
"We will develop [2017/18] and implement [2018/19] a rare disease ‘insert’. This will be a set of criteria that will sit alongside those NHS England service specifications (see enablers) for services that treat patients with rare diseases. "

Living with a rare disease

Living with Ehlers-Danlos Syndrome and why better data is so important [Comment]
Nuffield Trust 14 May 2019

• Sophie Castle-Clarke describes what it’s like to live with Ehlers-Danlos Syndrome, the cost to the NHS of a system currently failing rare disease patients, and what can be done to improve matters.

Quality of Life and Rare Disease: Lessons from Spinal Muscular Atrophy

How Should We Measure Quality of Life Impact in Rare Disease? Recent Learnings in Spinal Muscular Atrophy
Office of Health Economics Briefing, 2 April 2019

• Based on discussion of current approaches to the measurement of quality of life in Spinal Muscular Atrophy, the report highlights four possible strategies for improving the quantity and quality of data available to inform decision makers in the context of rare diseases:
• Bespoke data collection which is relevant to health technology assessment decision makers;
• Simple economic modelling methods, which reflect the evidence available at the time of the assessment;
• Collaboration among the different parties involved; and
• Identifying what is ‘good enough’ to inform decision making on use at the time of launch or of the health technology assessment process.
• New approaches to research could facilitate health technology assessment processes and improve patients’ access to cost-effective treatments for rare diseases.

UK strategy for rare diseases: 2019 update

UK strategy for rare diseases: 2019 update to the implementation plan for England
DHSC 27 February 2019

• The UK strategy for rare diseases: implementation plan for England was published in January 2018.
• This update on the strategy’s progress covers 5 main areas:
• empowering those affected by rare diseases
• identifying and preventing rare diseases
• diagnosis and early intervention
• coordination of care
• the role of research
• It also sets out the actions that DHSC and partner organisations will take over the next year to implement the commitments of the strategy.

UK Rare Disease Policy Board: second progress report

UK Rare Disease Policy Board: second progress report
Department of Health and Social Care 28 February 2018

• The second progress report from the UK Rare Disease Policy Board on the UK rare disease strategy.
• The second progress report highlights achievements since the first progress report in 2016 and discusses UK-wide opportunities and challenges up to 2020. The table of progress summarises progress against the commitments.