People with rare diseases face a significant lack of treatment in most cases. These diseases, predominantly genetic in origin, often result in disability and require specialized care, much of which is the responsibility of nurses.
A recent study, led by researchers from the Autonomous University of Madrid (UAM) and the Puerta de Hierro University Hospital in Madrid, proposes a map of competencies to optimize the care of these patients. The proposed skills include case management, education and training of both patients and other professionals, taking on the roles of other specialists when they are not available, and developing research and technology capabilities.
"The development of these roles seeks to improve the quality of life of patients and their families, while increasing the autonomy of nurses in their daily practice," the researchers explain.
This could include the rational use of pharmacological interventions, clinical diagnosis, referral of patients to other specialists and other actions that contribute to the efficiency and sustainability of the health system. However, the implementation of these roles in Spain is still scarce and poorly established.
The results of the study, published in the journal Enfermería Clínica, also suggest the importance of designing specific programs for patients with rare diseases from the field of healthcare management.
"Clearly defining the competencies needed to care for these patients would improve and strengthen the care they receive," say the researchers.
An innovative methodology
To carry out the research, a ’Rapid Realistic Review’ was used, an unusual methodology in Spain, but well recognized in countries such as the United Kingdom and Switzerland. This document-based review, oriented to the evaluation of complex interventions, allows an in-depth analysis of the functioning, context and recipients of these interventions, in this case, the competencies of nurses in the care of rare diseases.The realistic approach focuses on those who will use the research results and on the stakeholders. In this case, patient associations, family members and healthcare professionals were actively involved in the process. These associations play an essential role in the field of rare diseases, as they have driven research projects and innovative strategies that have transformed the health care of these patients.
The actors involved collaborated in all phases of the study, from the validation of the documents included in the review to the orientation of the research team, enriching the knowledge generated throughout the process.
Health care for people with rare diseases is often marked by major inequalities. Defining the professional competencies of nurses, who play a key role in the care of these patients, would help to reduce these disparities and move toward greater health equity.
Figures such as case managers have already demonstrated their value in healthcare in different contexts. Therefore, having nurses specialized in this group of chronic patients with complex needs is a key measure to improve diagnosis, treatment and follow-up within the health care system.
Bibliographic reference:
Nafría-Soria H, Salcedo-de Diego I, Serrano-Gallardo P. Advanced competencies of nurses in rare diseases. A rapid realist review. Enferm Clin [Internet]. 2024; Available from: http://dx.doi.org/10.1016/j.enfcli.2024.06.007More scientific culture in UAM Gazette
