This scoping review identified 12 frameworks on patient partnership aligned to core ERN activities. Developed predominantly in English-speaking countries, frameworks differed in terms of their topic area and scope and employed heterogeneous terminology and development methods. While their content and structure vary, all frameworks provide a number of considerations for practical application. Below, we outline four key learning points captured by this review, to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. See Table 4 for an overview of key learning points captured by this review and implications for further development and use of the ERN Patient Partnership Framework.

Use and promote the definition of ERN Patient Partnership: Patients and healthcare professionals as equal partners in the selection of appropriate engagement approaches

The identified frameworks employ heterogeneous terminology for the collaboration between patients and healthcare professionals. This highlights the importance of having a clear definition of patient partnership and an explanation of its goals, within the ERN Patient Partnership Framework itself and for the purpose of its dissemination and evaluation. The ERN Patient Partnership Framework defines patient partnership as “a mutual relationship between patients and health professionals, where input from people living with a rare disease or caring for someone with a rare disease routinely and formally informs the Networks’ collaborative activities and decision-making [which] implies considering health professionals and patients involved in the Networks as equal partners in all ERN activities and domains” (EURORDIS Rare Disease Europe 2023). This definition originated from the Rare 2030 foresight study (Rare 2030 Foresight in Rare Disease Policy 2021). It was subsequently adapted to the ERN context and agreed upon as part of the 5-hour framework development workshop involving key ERN stakeholders.

This definition reflects the importance of working as equal partners within a team, requiring a strong foundation of shared power and leadership and team co-learning described by Cox et al. (Cox et al. 2022), as well as formal structures in which patient representatives can work as ‘brokers’ within the ERN system, described by Wong-Rieger (Wong-Rieger 2017). Furthermore, in line with the ERN Patient Partnership Framework, frameworks present patient engagement approaches along a (non-hierarchical) continuum spanning from sharing to co-creation (Carman et al. 2013; Macklin et al. 2019). Rather than advocating for an identical and equal distribution of tasks, the ERN Patient Partnership Framework promotes the collaborative selection of engagement approaches. To work in this way, roles and responsibilities must be clear to all involved. Defining clear roles and responsibilities is specifically recognised in the ERN Patient Partnership Framework as one of the nine guiding principles promoting healthy, meaningful patient partnerships.

Strive for meaningful patient partnership that is outcome and/or value based

Several frameworks identified in this review underscore the importance of meaningful patient engagement which is outcome-driven and/or value-based. Macklin et al. (Macklin et al. 2019) identify tokenism as a key barrier to effective patient engagement and propose several solutions to mitigate it. Such solutions align with guidance provided in the ERN Patient Partnership Framework, emphasising the importance of advance discussion and communication on patient engagement approaches, roles and responsibilities, as well as the celebration of good results and progress.

Restall et al. (Restall 2015) advocate for an upfront, clear understanding of the desired and potential outcomes of patient involvement, while McCarron et al. (McCarron et al. 2020) emphasise the importance of understanding patient and family motivations to create meaningful engagement opportunities. The ERN Patient Partnership Framework outlines a set of guiding principles for meaningful collaboration, co-identified by patients and healthcare professionals: transparency, learning, teamwork, professionalism, complementarity, mutual respect, clarity of roles and responsibilities, shared leadership, and continuous involvement (EURORDIS Rare Disease Europe 2023). When selecting appropriate engagement approaches, the framework also recognises the importance of identifying desired outcomes.

Patient-clinician motivations for both initial and continuous ERN involvement were assessed as part of the framework’s development process. Specifically, these were captured in the survey circulated to stakeholders, which was based on a survey previously administered by McCarron et al. in 2019 (McCarron et al. 2019). Alongside other inputs, results of McCarron et al.’s survey (McCarron et al. 2019) were used to inform development of the aforementioned framework developed by McCarron et al. in 2020 (McCarron et al. 2020).

However, while ERN patient-clinician motivations have been assessed, their consideration during the prioritisation of collaborative activities and selection of engagement approaches has not been explicitly encouraged in the ERN Patient Partnership Framework. Such encouragement may help to enhance the value of patient-clinician partnerships within the ERN context.

Consider diversity and context to ensure patient partnership is both meaningful and inclusive

A number of frameworks identified by this review suggest that the type and nature of patient engagement may depend on several factors relevant to the individuals involved, such as their characteristics (culture, age/generation, condition), experiences, opportunities and preferences (Armstrong et al. 2017; Wong-Rieger 2017; Carlton et al. 2020; Duncanson et al. 2020; McCarron et al. 2020; Price et al. 2021). While such factors are not currently acknowledged in the ERN Patient Partnership Framework, their thoughtful consideration may be of added value in the pursuit of engagement that is both meaningful and inclusive. This is particularly significant given the diverse, European context in which the ERNs operate. Remaining mindful of accessibility needs within our target group is paramount and specific attention pertaining to the timing, nature and cost of participation is warranted (Duncanson et al. 2020). With there being 24 official languages within the European Union (EU) (European Union), language barriers/needs are also a crucial consideration for our ERN context. Rather than limiting participation to English-speaking individuals, the discussion of language barriers/needs may be integrated into the process of collaboratively selecting (appropriate) engagement approaches. This can be supported by translation services or tools, as required.

While fostering inclusivity may be key to recruiting and retaining ePAG advocates with varied backgrounds and experiences, it is important to recognise their position in representing patient communities. ePAG advocates play a crucial role in understanding their patient community, assessing and communicating the suitability of patient engagement approaches, and recognising their own limits and capabilities. As already recognised in the ERN Patient Partnership Framework, patient representatives “play a fundamental role in connecting the networks with the wider rare disease patient community and, where relevant, championing the diversity of views” (EURORDIS Rare Disease Europe 2023). It also acknowledges that they require support “to capture and analyse the voice of their communities”. This demands a level of commitment, time and resources (Restall 2015) from the ERN community as a whole.

Foster a culture of continuous improvement by actively addressing framework evaluation and implementation

A number of frameworks identified note the importance of evaluating the experience and/or impact of patient engagement (Carman et al. 2013; Armstrong et al. 2017; Macklin et al. 2019; Björkqvist et al. 2021; Dworetzky et al. 2023) and feeding back outcomes to inform subsequent engagement efforts (Carman et al. 2013; Duncanson et al. 2020). The ERN Patient Partnership Framework also advocates for continuous improvement backed by a rigorous evaluation of impact and experience (Abelson et al. 2023). Some additional impact measurement tools were identified in our review (Family Voices 2022). Efforts are underway within EURORDIS to test impact measurement tools for use within the ERN context.

The value of evaluation, however, relies on its effective implementation in practice. It is of note that a number of identified frameworks recognise various barriers to effective patient engagement on an individual, organisational and/or societal level (Carman et al. 2013; Armstrong et al. 2017; Macklin et al. 2019; Duncanson et al. 2020; Björkqvist et al. 2021). Barriers were also considered during development of the ERN Patient Partnership Framework and used to inform the development of recommendations, referred to as ‘enablers’. To operationalise such recommendations, the framework encourages the use of practical, task-specific guides (e.g. EURORDIS’ practical guide for partnership in guideline development), which can be likened to the ‘practical frameworks’ identified in this review. However, such frameworks also have recognised barriers (Armstrong et al. 2017). Furthermore, it is to be acknowledged that ERNs may endeavour to endorse relevant resources (e.g. clinical guidelines) developed by scientific or professional societies. Such societies may experience a unique set of barriers to patient partnership.

Given the pivotal role of stakeholder involvement in maximising the impact of the ERNs, active efforts are needed to overcome barriers and increase (sustained) uptake of both the ERN Patient Partnership Framework and the practical guides it recommends. For some ERNs, this may involve initiating a dialogue with relevant scientific and professional societies overlapping in focus. The field of implementation science, the scientific study of methods to increase uptake of evidence-based practices (Nilsen 2015), can offer valuable insights to promote successful implementation. Exploring and evaluating implementation success will also advance knowledge on how to effectively engage patients as stakeholders in (ERN) implementation initiatives.

Table 4 Key learning points captured by this review and implications for further development and use of the ERN Patient Partnership FrameworkLimitations

There are several limitations to our study. The search strategy, despite having been developed with the support of an experienced information specialist, may not have identified all articles relevant to this review. Articles may have been missed due to heterogeneous terminology used in scientific literature for patient engagement and for individuals with lived experience; for example, relevant articles using the term ´public´ may not have been captured. Furthermore, we may have overlooked content-relevant articles not explicitly identifying as a framework.

The frameworks identified in this review were predominantly developed in native English-speaking countries. This is likely explained by the inclusion of English language articles only. It is also of note that no framework identified was specifically focused on patient partnership in the rare disease context. Our review imposed no restrictions on disease type or prevalence. However, careful consideration was given to the application of key insights within the ERN context.

This review does not attempt to capture articles pertaining to all ERN activities e.g. with those relevant to the ERN work package on digital health not included. For many ERNs, efforts in the field of digital health are limited to use of the Clinical Patient Management System (CPMS), an ERN-specific virtual consultation platform. Many ERNs are also facilitating scientific research. However, having already received extensive research attention, patient partnership in scientific research was considered a field in its own right.

No quality assessment was applied to any of the frameworks selected, nor did we come across any evaluations of the identified frameworks during the article selection process. Evidence is lacking on the impact of varying and multifaceted patient engagement approaches (Carman et al. 2013; Armstrong et al. 2017; Cox et al. 2022). The identification of key learning points relied strongly on author interpretation based on previous experience.