Patients with anaemia lack red blood cells or haemoglobin, which means that these cells cannot successfully carry oxygen from the lungs to other cells in the body. While some forms of anaemia are relatively common and well-understood, it can take years for patients with rare inherited anaemias to receive a precise diagnosis, if they get one at all. These conditions also have few treatments, because of limited research funding.
Rare Disease Day, marked every year on the last day of February, aims to highlight such rare diseases: “1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed” (Rare Disease Day website).
A unique partnership
Since 2016, a group of patients with a range of rare anaemias and their carers, from all over the UK, came together in person and virtually to work with researchers and clinicians to identify what should be the research priorities for those investigating these rare anaemias, so that their research makes a real difference to patients’ lives.
The research agenda has traditionally been set by scientists, clinicians, funding bodies and pharmaceutical companies, but this process excludes patients, who are the group most directly affected by the disease. Patients also have personal insight into the condition, and can help refine the focus of research, for example by highlighting symptoms that particularly limit their lives.
To ensure that the various players were consulted, a steering group was created that included researchers of the MRC Molecular Haematology Unit (MRC MHU), as well as clinicians, patients and patient support groups. representatives. The team used the well-established structured format of the James Lind Alliance Setting partnership, previously used to produce 67 patient-driven research priorities in other conditions, to ensure that patients and carers had an equal voice in the discussion.
The aim of the project was to stimulate research on rare inherited anaemias by finding out what all partners believed to be the most important areas for future research, including in the areas of diagnosis, treatment and management of these conditions.
The project led by Dr Noemi Roy, postdoctoral researcher in the Buckle group at the MRC MHU and Honorary Senior Clinical Lecturer, included surveys, workshops and discussions. Patients, carers and healthcare professionals were on equal footing in the discussions, and their diverse skills and point of views were complementary, including medical knowledge, patient perspectives and an understanding of the research landscape and NHS organisational issues.
“The process was transformational”, said Dr Noemi Roy, “As we worked together for two years, we got to know each other well, and we learned to adapt the language we use, the assumptions we make, and the different outcomes each of us were considering for the future.”
The process culminated in a final workshop with 34 participants, where consensus on key issues emerged and yielded a final list of ten research questions, covering the need for new treatment options, better quality of life and the need for information and samples to be shared. The final report was published last June and can be accessed here.
A future for inherited rare anaemias
I can help future generations and raise the profile of rare anaemias. This work makes me feel like I have a part to play and that even though you’ve got a rare condition, you can still make a difference - patient
The participants now hope that the areas identified by their diverse group will inform future research, helping both the funding charities that award research grants, and the researchers, in their choice of research question.
The partnership also made clear how important open, equal dialogue between all stakeholders was. “I can help future generations and raise the profile of rare anaemias.”, said a patient, “This work makes me feel like I have a part to play and that even though you’ve got a rare condition, you can still make a difference”.
Also read Dr Noemi Roy's post on this project on the Oxford University Science Blog.