The All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions has met with representatives from the Department of Health (DH), Public Health England and the National Institute for Health Research (NIHR) as part of its inquiry into the implementation of the UK Strategy for Rare Diseases in England.
On Monday 7 November, the hearing chaired by Ben Howlett MP sought to investigate what impact the absence of an implementation plan in England has had on the research commitments outlined in the Strategy. It also provided an opportunity for representatives from the DH’s arm’s length bodies to answer questions raised by patients and patient representatives at an earlier hearing on Tuesday 1 November on the implementation of the Strategy in England, its repercussions for the devolved nations and coordination of patients’ care across health and social care providers.
The four countries of the UK have until 2020 to implement the Strategy. While the departments of health in Scotland, Wales and Northern Ireland have all published country specific implementation plans that reflect their respective health service structures and priorities, the DH in England has not coordinated a plan for England.
The National Institute for Health Research
Following an introduction from Ben Howlett MP, outlining themes raised by patients at the earlier hearing, attendees heard from Dr Tony Soteriou, who leads on the delivery of research commitments within the UK Strategy for Rare Diseases. Within this role, he oversees policy relating to the NIHR. To help implement the Strategy’s research commitments, the NIHR has developed new processes to speed up the approval process for proposed rare disease research, as well as ethics approvals and NHS permissions. It has also developed structures to encourage patient involvement in all areas of its work. NIHR continues to fund research projects and programmes for very rare diseases.
NIHR’s Rare Diseases Translational Research Collaboration (RD-TRC) supports research on the causes, impacts and treatments of rare diseases. It is an initiative that brings a number of NIHR’s investments together and has been developed as a result of the Strategy. Kathryn Irons, Patient Public Involvement Lead for the RD-TRC, informed the group that the RD-TRC strives to ensure that patient involvement is at the heart of all its work. It directly funds around 50 rare disease studies across England, and requires applicants to provide details of patient and public involvement during both the application process and documentation. Working with patients, it has also funded the development of two experimental apps which would enable patients to directly input data about their rare disease.
The National Congenital Anomalies and Rare Disease Registration Service
Coordinated through Public Health England, the National Congenital Anomalies and Rare Disease Registration Service (NCARDRS) is a population-level register that aims to collect data on every rare disease and congenital anomaly listed by Orphanet. Jem Rashbass, the National Director for Disease Registration and Cancer Analysis at Public Health England, provided an overview of Public Health England’s extensive information governance and data processing systems, which ensure all data is held confidentially and safely.
The Department of Health
Colin Pavelin, Head of Regenerative Medicine and Rare Disease Policy at the DH, stated that his Department is not responsible for implementing the Strategy, but facilitating its arm’s length bodies to implement it. He began by providing a brief outline of the DH’s role in developing the Strategy, and in initiatives such as European Reference Networks, led by the European Commission, as well as Genomics England’s 100,000 Genomes Project. He said that the DH is working with analysts to develop measures and a framework to monitor progress across the 51 commitments, which will be published in the next biennial report on the Strategy’s implementation in 2018. He warned that patients should not expect all recommendations to be implemented by 2020, as many of them will be outdated due to developments in genomics technology.
Coordinating care in England
After all presentations had been given, parliamentarians, patient representatives and other attendees were invited to discuss issues raised by speakers. During the discussion, the DH stated that it does not feel England is at a disadvantage compared to the devolved nations because it does not have an implementation plan. This view was met with disagreement among patient representatives, who said that the development of an implementation plan for England would improve communication between the DH and patients and carers, who could use it as a point of reference to help understand what is happening with implementation, when commitments will be implemented, and why it has been decided not to implement certain commitments. NCARDRS said that it is not able to collect data on patients who do not have a diagnosis listed on Orphanet, which patient representatives felt disadvantages rare disease patients with multi-system disorders and very rare conditions.
Attendees discussed the importance of coordinated care for rare disease patients, with patient representatives commenting that patient organisations often become responsible for coordinating rare disease patients’ care because of gaps in provision by the state. Colin Pavelin also addressed Rare Disease UK’s Patient Empowerment Group’s concerns with the decision to reconfigure the UK Rare Disease Forum, stating that the Department did not feel it had acted as an appropriate platform to develop policy in its existing form.
On Tuesday 15 November, the APPG and patient representatives will meet with representatives from NHS England and NICE to discuss the implementation of commitments they are responsible for.
To support the APPG’s inquiry into the implementation of the UK Strategy in England, we need to hear from everyone affected by rare diseases –that includes patients, family members and carers. To submit evidence, please see our guidance. Evidence can be submitted via e-mail or online using this form.
We also welcome input from other stakeholders in the rare disease community, including patient representatives, academics and industry. Please see this guidance for more information. Evidence can be submitted via e-mail.
The deadline for submitting evidence is Monday 2 January 2017.
Photo credit: Joshua Tucker