Promoting inclusive, patient-oriented research: A rare disease patient perspective

Rare diseases severely impact people’s everyday lives and the lives of those around them: they often face overwhelming time, health, and social costs. For support, patients and their caregivers are often involved in patient organisations such as ProRaris, an umbrella organisation that advocates for patient groups and patients in Switzerland living with a rare disease. Patients and patient organisations can help provide researchers with an insider’s perspective on their health conditions, thus improving research related to a cure or treatment (FOPH 2014).

Focus on public health research

According to the Organisation for Economic Co-operation and Development’s (OECD’s) 2001 definition, biomedical research encompasses the full spectrum of health- and disease-related research, from basic research to public health research through to clinical research (OECD n.d.). However, the understanding of biomedical research is now commonly restricted to discovery research and thus does not cover the full range of health-related research. Public health research (Egger et al. 2021), by nature observational, focuses on the evaluation of population health and well-being and patient experiences (Moreau et al. 2021). This research typically happens outside of the controlled clinical setting of experimental or interventional research and aims to improve the physical and mental aspects of the human condition through longitudinal, interdisciplinary, multi-methodology research. The well-funded biomedical approach to research is oriented towards developing technological solutions that can be commercialised. An excellent recent example is the development of SARS-CoV-2 vaccines. Public health research is often neglected, yet an increased focus on such research could address many patient-oriented topics, including:

• patients’ criteria for quality of care
• how patients perceive interdisciplinary and interprofessional collaboration
• patient self-management
• patient empowerment
• life-course and transition challenges.

Patient involvement in research: “Nothing about me without me!”¹

Patient and public involvement (PPI) in research (biomedical or public health) means that a research project is carried out “with/by” patients or the public.² Patients’ opinions must have a more significant influence on the decisions that affect them. Care that is respectful of and responsive to their preferences cannot be provided without patients’ participation in both their own healthcare decisions and the research that informs such decisions.

It is important to emphasise that patients do not all share the same experiences and skills, and they are not all willing to be involved to the same degree in research. Moreover, different studies may have different needs for patient involvement. What is certain is that all patients can contribute to some degree and make a difference at every stage of research (see Box 1).

PPI considerations: Compensation and self-management

PPI depends on patients sharing their expertise. Rare disease patient expertise is in increasingly high demand for various reasons, including a lack of understanding of many rare diseases, lobbying with drug agencies, patient recruitment, and fundraising (Halsbeck et al. 2016). The PPI aspects of a research project and patient experts’ contributions require a considerable time investment. To attract enough PPI contributors, they must be adequately compensated financially, beyond any non-material benefits they may experience by contributing. This argument favours having more PPI contributors considered active members of a project team (Pomey et al. 2021) and on the project’s payroll.

Self-management refers to how people who are affected by a chronic condition manage their health and themselves (FOPH 2018). Self-management requires striking a balance between enabling patients to manage their health, not putting them under too much pressure to do so, and not setting unrealistic self-management goals. For patients with low self-management, actively participating in a research project can be a source of additional stress. Patients with high levels of self-management are excellent candidates for PPI in research projects, primarily due to their ability to critically reflect on their health situation. Including their perspectives on self-management and other patient-relevant topics can significantly improve participative research study designs.

PPI in future research

Comprehensive and practical PPI can be challenging to achieve (NHS Health Research Authority n.d.). The first step is involving patients. Involving the wider public raises additional methodological questions but might be particularly important for preventive (e.g. vaccination) and screening interventions targeting non-diseased persons. Biomedical and public health researchers should remember that the main objectives of their research are to prevent disease, promote its early detection where appropriate, cure illness where possible, or improve treatment and thus improve patients’ quality of life. PPI can be a powerful tool in helping retain the focus on these objectives (see PPI action points in Box 2). In light of all these considerations, the research agenda for the next ten years must include PPI. In Switzerland, a dedicated national research program addressing ways to organise PPI and, more generally, citizen science is overdue.

Acknowledgements

The authors would like to thank the following people for their input on and revision of this manuscript: Matthias Egger and Marcel Zwahlen at the Institute of Social and Preventative Medicine (ISPM) in Bern, Jacqueline De Sá at ProRaris, and Nadine Stoffel-Kurth and Alberto Marcacci at the Federal Office of Public Health (FOPH).

References

• Egger M, Razum O, and Rieder A, eds. (2021) Public Health Kompakt, 4th edition, pp. 1–2; 9–24. Berlin/Boston: Walter de Gruyter GmbH. (in German)
• Federal Office of Public Health FOPH (2014) National Rare Disease Policy. Accessed 2 July 2021. https://www.bag.admin.ch/bag/en/home/strategie-und-politik/politische-auftraege-und-aktionsplaene/nationales-konzept-seltene-krankheiten.html (in German)
• Federal Office of Public Health FOPH (2018) Referenzrahmen: Selbstmanagement-Förderung bei chronischen Krankheiten und Sucht. Accessed 2 July 2021. https://www.bag.admin.ch/bag/de/home/strategie-und-politik/nationale-gesundheitsstrategien/strategie-nicht-uebertragbare-krankheiten/praevention-in-der-gesundheitsversorgung/selbstmanagement-foerderung-chronische-krankheiten-und-sucht/referenzrahmen-selbstmanagement-foerderung.html (in German)
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• Pomey M-P et al. (2021) Assessing and promoting partnership between patients and health-care professionals: Co-construction of the CADICEE tool for patients and their relatives. Health Expectations 24(4):1230–1241. doi: https://doi.org/10.1111/hex.13253
• Stutz Steiger T (2016) Gesunde Bewältigung einer chronischen Krankheit: Austausch unter seinesgleichen. Researchgate. doi:10.13140/RG.2.1.1965.9124 (in German)

1. From Valerie Billingham during session 356 of the Salzburg Global Seminar in 1998 entitled Through the Patient’s Eyes.
2. Adapted from the National Institute for Health Research (NIHR) INVOLVE’s supporting statement (https://www.invo.org.uk).