More than 30 million persons in Europe are affected by rare diseases (RDs). Due to their low prevalence, knowledge and expertise on RDs can be limited and access to diagnosis, high-quality care and treatments are often unequal throughout Europe. In order to address the current challenges, the European Commission has launched an important initiative that, starting from March 2017, has established the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe (1). The aim of the ERNs is to tackle complex and rare diseases and conditions that require highly specialized treatment and a concentration of knowledge and resources. It is well known that no country alone has the knowledge and capacity to treat all rare and complex diseases and for this very reason, ERNs offer the potential to give patients and clinicians across the EU access to the best expertise and timely exchange of life-saving competence, making knowledge travel more rather than patients (2). Twenty-four ERNs are currently working on different thematic areas, such as rare cancers, neuromuscular and metabolic disorders (3). The ERN ReCONNET (4) is one of the 24 ERNs approved that aims to improve the management of Rare and Complex Connective Tissue and Musculoskeletal Diseases (rCTDs) across the EU. In addition, the ERN ReCONNET involves and engages with patient organizations thanks to the creation of the ERN ReCONNET European Patients Advocacy Group (ePAG) (5).
In order to implement the mission of the ERNs and to ensure their sustainability, the ERNs are expected to create a precise and stable link with the different healthcare systems of the Member States. This was clearly defined in the Statement of the ERN Board of Member States (BoMS) on Integration of the European Reference Networks to the healthcare systems of Member States (6), in which the BoMS outlines tangible actions towards the integration of the ERNs into the Member States, prioritizing and encouraging specific actions aimed at planning and implementing the integration process. Among the specific actions mentioned in the Statement, the BoMs encourages the creation of appropriate (clear and well-defined) patients’ care pathways in order to improve the care and the management of patients with complex and rare diseases.
The European Pathway Association defines the patients’ care pathway as a “complex intervention for the mutual decision making and organisation of care processes for a well-defined group of patients during a well-defined period.” (7). Therefore, it seems clear that the main goal of a patients’ care pathway is to enhance the quality of care by providing an integrated tool for the treatment of several complex diseases; this is particularly crucial in the field of rare and complex diseases.
Taking into consideration the mission of improving the care of RDs patients in Europe and considering the multi-stakeholder involvement, ERNs might represent the most appropriate setting for the creation of organisational reference models for patients’ care pathways across Europe. For this reason, in the framework of the collaboration between the ERN ReCONNET Coordination Team and the group of Health Economics of the Institute of Management of the Scuola Superiore Sant’Anna, an extensive effort has been made towards the creation of an organisational reference model for patients’ care pathways in rare and complex diseases across the different Member States. In order to develop the reference model, a specific methodology was created to enable the design of the patient’s care pathways based on a deep sharing of expertise on high-quality care and characterized by a strong patient-centred approach. The development of this specific methodology started from the need to implement the existing approaches already in use for the assessment of care pathways.
An ad hoc methodology was in fact needed to address the specificity and the innovative asset provided by the ERNs and their unique environment represented by a multi-national and multi-stakeholder collaborative framework. The existing methodologies already in use to create and assess patients’ care pathways were in fact implemented, adjusted and largely upgraded to the larger context of the ERNs, both in terms of countries and healthcare providers’ involvement as well as to the peculiar characteristics of rare and complex diseases and the need to enable the adaptation of the patients’ care pathways in the different healthcare systems.
This work is aimed at reporting on RarERN Path, a methodology specifically designed to develop an organisational reference model for patients’ care pathway in rare and complex diseases across Europe.
RarERN Path is a methodology specifically designed for the development of common and shared organisational reference patients’ care pathway models for rare and complex diseases.
The specific aim of RarERN Path is to provide a valid organisational model for patient-centered care in rare and complex diseases that enables the integration of the different stakeholders involved in the care process, and that adapts in a flexible way to different disease-specific and geographical contexts across Europe.
Patients’ care pathways: the added value of ERN
Patient’s care pathways represent health management tools that indicate the sequence of the procedures that need to be carried out on the basis of the current scientific knowledge and on the available organizational, professional and technological resources (8–13). The approach used to assess and analyse patients’ care pathways is related to the general concept of process management that considers the path of the patient from an organisational point of view. In particular, the process management aims to ensure the effectiveness, the efficiency, and the management of the care while improving the quality of the patient’s experience and care.
It is well known that the concept of patients’ care pathway does not overlap with Clinical Practice Guidelines (CPGs), but can rather represent a tangible organisational strategy to implement and apply CPGs not only at national level, but also in the single healthcare provider’s environment. The CPGs are defined as “statements that include recommendations intended to optimize patient care that are informed by a systematic review of evidence and an assessment of the benefits and harms of alternative care options” (14); therefore, it is clear that defining and improving patients’ care pathways may surely contribute to a more efficient and sustainable application of the CPGs, especially in the case of health contexts where less expertise is available and the resources for care are limited.
This is particularly crucial in the field of rare and complex diseases, where the knowledge is often scattered and access to care and treatment can be heterogeneous. In this scenario, it appears clear that patients’ care pathways can have an evident role in accomplishing ERNs’ mission to facilitate an equitable access to timely diagnosis and delivery of high quality, accessible and cost-effective healthcare for all patients with rare or complex diseases. Patients’ care pathways are in fact considered crucial in providing patient-centered care and in the promotion of an efficient use of resources (13).
For this reason, ERNs can provide important added value in the implementation of patients’ care pathways especially considering their multi-stakeholders and multi-countries nature, taking advantage of the high level of expertise that characterizes the Networks and building on the well-established patient-centered approach that defines the ERNs themselves.
Following these considerations and taking into account the work already in place in the ERN ReCONNET on organisational and economic aspects of rare and complex diseases (15), it appeared clear that one of the needs to be prioritised was represented by the development of a specific methodology aimed at defining organisational patients’ care pathways models across Europe. Starting from existing standard methods for the creation and elaboration of patients’ care pathways, a specific methodology was created in order to take advantage of the distinctive and peculiar characteristics of the ERNs; the integration of the perspectives of large communities of patients, expert clinicians, health economists and healthcare providers from different EU countries surely represents a real innovative approach towards the creation of organisational models of patients’ care pathways for rare and complex diseases that are integrated, flexible and adaptable to the different health systems in Europe.
The RarERN Path method aims to create a single reference organisational model for patients’ care pathways which, if applied in different contexts, helps to ensure an improved, cost-effective and patient-centred equal care to rare and complex diseases. RarERN Path, which will be explained in detail below, represents, in this vision, a tangible example of the application of the “Share. Care. Cure” fundamental principle of ERNs.