Developing Evidence-Based Care Pathways for the Management of Rare Genetic Disorders: A Multidisciplinary, Patient-Centered Approach to Enhancing Diagnostic Accuracy and Treatment Outcomes in Nursing Specialization

Abstract

Background: Rare genetic disorders (RGDs) present substantial challenges to healthcare systems, primarily due to their complexity, rarity, and wide-ranging clinical presentations. The management of RGDs often lacks standardized care pathways, leading to fragmented care, delayed diagnoses, and inconsistent patient outcomes. These challenges underscore the critical need for evidence-based care pathways (EBCPs) that can guide the diagnosis, treatment, and long-term management of RGDs, with a particular emphasis on patient-centered care within the nursing profession. Such pathways should facilitate a collaborative, multidisciplinary approach, integrating various healthcare disciplines, including nursing, to ensure comprehensive, efficient, and timely care.

Aim: This paper seeks to develop robust, evidence-based care pathways specifically designed for the management of RGDs, focusing on enhancing diagnostic precision, ensuring timely interventions, and optimizing long-term patient outcomes through the use of standardized, nurse-led care protocols and interdisciplinary collaboration.

Methods: A systematic literature review was conducted to assess existing care models for RGDs. Clinical case studies were examined to identify existing gaps and best practices in current care models. In-depth engagement with stakeholders, including surveys and interviews with healthcare providers, patients, and caregivers, informed the development of the proposed care pathways. A multidisciplinary consensus, facilitated through the Delphi method, was reached to validate the proposed EBCPs, ensuring that the role of nursing in managing these disorders was clearly defined.

Results: The study identified significant deficiencies in current care for RGDs, including limited access to specialized services, poor coordination between healthcare providers, and inconsistent adherence to evidence-based practices. The proposed EBCPs include standardized protocols for early diagnosis, individualized treatment plans, and coordinated follow-up care, with a strong focus on the critical role of nurses in ensuring the delivery of holistic, patient-centered care. The implementation of these pathways is expected to improve diagnostic accuracy, increase patient satisfaction, and reduce healthcare costs.

Conclusion: Evidence-based care pathways represent a transformative approach to the management of rare genetic disorders, addressing disparities in care and promoting consistency across healthcare systems. Further research is essential to refine these pathways and assess their long-term impact on patient outcomes, healthcare costs, and the evolving role of nursing in managing these complex conditions.