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Striving to place rare disease patients at the centre of research priorities

Published: 11 April 2022

Following Health and Social Care Secretary Sajid Javid releasing England's first Rare Diseases Action Plan, Hannah Stark, Operations Lead at the NIHR BioResource, explains the importance of a national concerted effort to tackle rare diseases and the role of volunteer participant cohorts.

Patients living with a specific rare disease are, by definition, few and far between. Inevitably, recruiting rare disease patients to research studies is time consuming, expensive and full of paperwork given the paucity of suitable candidates and their disbursement across the country. The screening process to identify suitable individuals with the complex genetic and phenotypic criteria required by researchers means recruiting on time and to target is a challenge that must be considered a prevailing barrier to vital research efforts into rare diseases.

Factor in the pandemic, with rare disease patients amongst the most vulnerable groups, and the challenge has been further exacerbated. Clinic appointments have been changed to virtual so there is a change in the interaction between patients and clinicians. In an already slim field of research, opportunities will have been curtailed further. It is important that rare disease patients, and their families, aren’t forgotten about in the face of these changes and opportunities for research are provided to improve diagnoses, treatments, and quality of life.

A unique and powerful resource for investigating the links between genes, the environment and disease

The NIHR BioResource is a panel of over 200,000 volunteers, with and without health conditions, who have consented to participate in health research. Our Rare Diseases cohort within the BioResource, consisting of more than 21,000 patients and family members across over 60 rare disease areas, is a unique resource for overcoming the recruitment difficulties outlined above.

Disparate groups of patients – and their genetic, phenotypic and health and lifestyle data, along with NHS records – are brought together into one central source of information. Recruitment of rare disease patients occurs across over 60 NHS Trusts with data held centrally in a secure facility. Researchers apply to access samples and data with screening costs and time curtailed as the data is already on hand in the BioResource. Then the unique advantage of using the BioResource: the ability to recall patients, relatives and controls based on specific criteria to participate in further research.

We work closely with patient groups and charities, Cystic Fibrosis Trust and Ring 20 Research and Support UK being recent examples, to create research recruitment projects that aim to build a cohort of patients to support health research in these areas.

The patient’s voice must be heard when it comes to research. Along with our work with patient groups, our National Participant Advisory Group provides a platform for patients and volunteers from across our 13 local centres and programmes to contribute to the development of future strategies and offer opinion on where our focus should be. We are excited to launch our Participant Portal this year, giving volunteers an incredible window into the impact they’ve made in human health research.

New commitments on research and additional funding for the NIHR BioResource

The Rare Diseases Action Plan for England, published by Secretary of State for Health and Social Care on Rare Disease Day 2022, sets out the strategy to tackle the reality that rare disease research is often overlooked because of the smaller population that stands to benefit. The BioResource is proud to have contributed to the framework for the Action Plan, with the landmark rare diseases paper -‘Whole-genome sequencing of patients with rare diseases in a national health system’ - published in 2020, and subsequently identified as one of ten key advances of 2020 in applying genomic information to clinical care.

The NIHR BioResource was a key collaborator in the setup of the 100,000 Genomes Project led by Genomics England with 4,660 patients from the Rare Diseases BioResource participating. Genomics England’s flagship paper was published in the New England Journal of Medicine last year.

We are determined to advance health research into rare diseases that affect millions across the UK and the world. Here at the NIHR BioResource we can lift the burden of recruitment and recall of participants, but we need the research community to work with patient groups, charities, policy makers and government to prioritise rare disease patients if we are to tackle this together.

Hannah Stark, Operations Lead at the NIHR BioResource

Learn more about the Rare Diseases cohort at the NIHR BioResource and how to use the NIHR BioResource to support your research.

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