Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation

Abstract

Background: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional stakeholders in devising community-framed strategies to address the unmet needs of rare diseases are lacking. In this study, we engaged with the community of Congenital Disorders of Glycosylation (CDG) to assess its needs and elicit social innovations to promote people-centred care and research. Methods: Drawing on a qualitative study, we conducted three think tanks in France with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. They were selected from the registry of the Second World Conference on CDG through heterogeneity and simple random sampling. Inductive and deductive approaches were employed to conduct interpretational analysis using open, axial and selective coding, and the constant-comparison method to facilitate the emergence of categories and core themes. Results: The CDG community has unmet needs for information, quality health care, psychosocial support and representation in decision-making concerned with care and research. According to participants, these needs can be addressed through a range of social innovations, including peer-support communities, web-based information resources and a CDG expertise platform. Conclusion: This is one of the few studies to engage lay and professional experts in needs assessment and innovation for CDG at a global level. Implementing the innovations proposed by the CDG community is likely to have ethical, legal and social implications associated with the potential donation of patients' clinical and biological material that need to be assessed and regulated with involvement from all stakeholders. To promote people-centred care for the CDG community, and increase its participation in the governance of care and research, it is necessary to create participatory spaces in which the views of people affected by CDG can be fully expressed.

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

“…These facts must be clearly elucidated and communicated. Participants expressed interest in receiving more information on immunology which underlines an unmet information demand concordant with a previous study conducted in the CDG community [22,[87][88][89]. Health education and literacy for non-experts are becoming increasingly important, particularly as we are entering an era of personalized medicine that will require patients to play an active role in health decision-making [90].…”

“…Families/patients, particularly in rare diseases, are uniquely positioned to provide data on health-related topics, as they experience and permanently deal with the disease, becoming experts in their own condition [21]. Indeed, people-centricity has redefined needs and priorities in CDG and may still open new and (more) meaningful research avenues [22].…”

The application of social innovation in healthcare: a scoping review

“…Many European countries have adopted social innovation to address welfare state failures, particularly related to the inability of governments to sustain rising health expenditures for ageing populations [ 66 – 72 ]. In this context, social innovations have also been developed in response to policy objectives concerning public participation in health, often as a secondary strategy to move the burden of care from the state to individuals and other actors through social enterprise [ 71 , 73 – 75 ]. As this indicates, social innovation is typically applied to address health system failures.…”

Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China

“…Owing to time constraints, consultation times are limited, and doctors are unable to provide patients with all the necessary information. In fact, a large number of doctors complain that even they have very few means to obtain information on RDs [36]. Freitas also indicated that unmet information needs harm doctors' decision-making, which may result in di culties in making a de nitive diagnosis [37].…”