Rare diseases care pathway: a major challenge to harmonize patient management

Rare diseases care pathway: a major challenge to harmonize patient management

In France, rare diseases are numerous: between 7,000 and 8,000 diseases are currently accounted for, and concern more than 3 million French people, accounting for almost 4,5% of the total population. The organization of screening and care for these illnesses involves various healthcare structures and medical specialties. The quality of patient management and treatment suffers from this complexity, which causes inequalities between territories, as a result of local variations. Alcimed looked into the issues regarding rare diseases care pathway.

Diagnosis, care, treatment and follow-up: complex key steps in the rare disease care pathway

A patient who develops an illness has to overcome many important steps before being accurately diagnosed, treated, and followed. The road ahead is however longer, more winding and more complex in the context of rare diseases. Several factors help explain this complexity:

  • The first and most obvious is the lack of knowledge of these rare diseases associated with complex or non-specific symptoms, which extends the time between the development of the symptoms and communication of the diagnosis to the patient.
  • Secondly, the expertise acquired for these rare diseases is related to reference centers and centers of excellence, which are themselves usually integrated into university hospitals. This complicates access to diagnosis and care, caused by geographical remoteness or difficulty in making appointments.
  • Thirdly, the choice of treatment is also often affected by numerous problems, which concern other diseases as well but are intensified in the case of rare diseases. The limits are similar regarding, for instance, the lack of therapeutic alternatives, the variability or the absence of patient management, as well as the lack of acknowledgment of the fact that these diseases can cause disabilities.
  • A fourth limiting factor for the rare diseases care pathway concerns the follow-up of patients who received a diagnosis associated or not with a treatment. Indeed, the abovementioned geographical remoteness can strongly deteriorate the quality of life of the patients who wish to be followed within one of these university hospitals (change of residence or choice of a job near a hospital…).

Learn more about the challenges of rare diseases >


In this article, we present you 4 key levers for action, which can allow the optimization of rare diseases patient pathway or management.

1. Promote the multidisciplinary approach for patient management in rare diseases care pathway

A distinctive feature of rare diseases is the rarity and the centralization of expertise within university hospitals. This deficiency can be an obstacle to diagnosis and patient management. Over the past few years, several actions have been taken in order to add a multidisciplinary component to patient management. For instance, following the second national plan for rare diseases, care networks (called “filières de soins”) have been developed and allow the grouping of rare diseases according to common characteristics. The aggregation and involvement of various medical and paramedical stakeholders enable patient management at every level of his or her disease, patient management is then universal.

2. Promote the involvement of the patients as well as their relatives through the transmission of knowledge

The involvement of the patients and their relatives is an efficient practice to improve patient management and facilitate the transfer of information between patients and caregivers. In a previous article, we presented three key tools for the improvement and transmission of knowledge on rare diseases: the experiential knowledge’s transfert from families and caregivers, broadly training healthcare professionals through e-learning, as well as informing patients and streamlining the care pathways. In the context of rare diseases, patient associations and rare diseases groups also play an essential role in access to knowledge, in the transfer of knowledge and in the training and therapeutic education of patients.

Read also : Patient engagement: raising awareness and empowering patients!

3. Use and work with the data to enhance rare diseases knowledge and improve patient pathways

The low number of patients affected by rare diseases makes it difficult to study these illnesses. Yet these investigations are of key importance to better understand, foresee and anticipate the emergence of new patients. It is therefore necessary to consolidate patient data in order to improve rare diseases care pathways. This consolidation could also help identify potential areas for improvement in the patient pathway. This would be enabled by the simplification of access, the use and analysis of pre-existing databases, combined with the creation of new registers. Moreover, exploiting new data or including new kinds of data could be of great interest. In this sense, at Alcimed we are developing our Data offer by being involved in the analysis and use of health data related to rare diseases.

4. Further involve public authorities in the harmonization of care pathways for rare diseases

In France, Health public authorities, which are represented today by the Ministry of Solidarity and Health and the Ministry of Research and Higher Education, have elaborated three national plans regarding rare diseases. The latest one, “Rare diseases national plan 2018-2022”, aims to enable the sharing of innovation and to improve diagnosis and management of patients with a rare disease. This plan is organized in 11 axes with the objectives to coordinate local actions at a national level, reduce the time between the development of the symptoms and the diagnosis, standardize patient management, and increase the volume of information and resources available on these rare diseases. Coordination support systems for health professionals in the field have been developed for rare diseases.

Thus, several complementary levers must be activated to improve patient management in the field of rare diseases in their care pathways. Favoring multidisciplinary and coordinated patient care is essential, especially through strong involvement of health authorities. This also requires an increase in our knowledge on these pathologies, both by capitalizing on the information transmitted by patients and their families, and also by relying on the collection and consolidation of data. In this context, Alcimed is engaged in the development of new sources of knowledge and of the opportunities they create. We can accompany you in the exploration and exploitation of data. Contact our Data explorers to discover together the potential of your data!


About the author,

Nicolas, Consultant in the Alcimed’s Healthcare team in France

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