"in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership

Patients with rare inherited anaemias (RIAs) may take years to receive a precise diagnosis. Lack of equitable access to the few centres of specialist expertise means not all patients will receive the same standard of care. Few treatments have been developed, in part from lack of research. The research agenda is traditionally set by scientists, the medical profession, funding bodies and pharmaceutical companies. The voice of patients and carers is rarely considered in deciding which questions will be addressed in studies. Involving patients in setting the research agenda is likely to improve the validity and quality of research, but the practicalities of surveying patient voices objectively are not straightforward. Using a well-established, structured format for collecting patient-driven priorities, we carried out a James Lind Alliance (JLA) Priority Setting Partnership (PSP) in RIA. This has been used internationally to produce patient-driven research priorities in >60 disorders, eg blood transfusion and donation.

The aim of the study was to determine what people with RIAs, their carers and health professionals believe to be the most important areas for future research using a 3-step sequential survey approach. The steering group (SG) comprised adult and paediatric haematologists, nurses, patients, representatives from patient organisations, and a JLA facilitator, reflecting representation from medical and lay stakeholders. The SG chose to focus this piece of work on disorders which are individually rare or very rare to provide the first ever opportunity for a collective voice: Diamond-Blackfan Anaemia, Congenital Dyserythropoietic Anaemia, Congenital Sideroblastic Anaemia, red cell membrane and enzyme disorders, and transfusion-dependent unexplained RIAs. The SG devised the first survey (PSP Survey 1) comprising open questions to address the diagnosis, treatment, and management of these conditions. Survey 1 was distributed UK-wide to adult and paediatric haematologists, patient organisations and support groups and on social media. The British Society of Haematology distributed to all members. Haematologists were invited to send the survey to their patients.

88 people responded to PSP Survey 1, listing questions they would most like answered. Of these, 23% were patients, 27% relatives/friends, 44% health/social care professionals, 6% other. A total of 314 valid questions were submitted, then filtered by grouping similar/overlapping questions, removing those answered in the literature, leaving 48 unanswered questions to be taken forward in PSP Survey 2. 120 respondents ranked each question on a Likert scale, indicating the degree of personal importance. Individual scores were totalled to provide a shortlist of 25 questions for Stage 3, a one-day multidisciplinary workshop with 30 people representing the breadth of stakeholders recruited via patient and clinician groups and through social media. The Stage 3 PSP workshop identified the 'Top 10' questions by crossover multidisciplinary mini-working groups reaching a consensus using shared understanding between patients and professionals:

1. Would a national formal network of clinicians with expertise and /or a national multidisciplinary team meeting improve care for patients with (RIA)?

2. Can the diagnostic pathways be improved to provide faster and more accurate diagnoses in a cost effective manner?

3. Could an understanding of the cellular and molecular processes in red blood cell production lead to new treatments?

4. Could the need for iron chelation be reduced? Could current approaches and monitoring be improved?

5. How do existing drugs for RIA work? Could this understanding lead to new treatments and new ways of delivering treatments?

6. How can the fatigue of severe anaemia be managed (apart from blood transfusions)?

7. Would a register of all RIA patients in the UK (including data and samples) improve care?

8. How is quality of life affected by RIA and its treatment? How could this be improved for patients?

9. What factors indicate that a person with a RIA needs a transfusion, and what is the best regime to maintain safety and quality of life?

10. How can high quality care be sustained throughout a patient's lifetime (e.g. from child to adult and into old age)?

Engagement by funding bodies to prioritise funding for projects addressing these patient-selected priorities is now key to ensure the success of this initiative.