OBJECTIVES: As most stakeholders agree upon the importance of a common approach to the identification and assessment of unmet needs, the Belgian Healthcare Knowledge Center (KCE) has developed a NEED framework for transparent and standardized evaluation of health-related unmet needs. This study aims to assess the applicability of the NEED framework for rare diseases and identify possible adaptations.

METHODS: A rapid review was conducted between May-June 2023 to evaluate existing criteria and methods used to identify unmet patient and societal needs in rare diseases. PubMed and Embase were searched, and data from 217 publications were systematically extracted using a standardized Excel sheet. The review findings were compared with the KCE NEED framework, and expert meetings were planned with stakeholders to complement insights.

RESULTS: The review identified both differences and similarities in criteria and methods for identifying health-related unmet needs, highlighting opportunities for adapting the NEED framework. For example, opportunities for the NEED framework include (i) considering the information needs of patients, caregivers and physicians, (ii) including the disease knowledge among physicians and timely diagnosis, and (iii) taking into account the impact on quality of life of caregivers. Methodological considerations specific to rare disease research, such as small sample sizes and limited clinical experience, were also identified as potential avenues for adapting the framework.

CONCLUSIONS: While the KCE-NEED framework demonstrates the potential for identifying unmet health-related needs, preliminary findings highlight the need for adaptations to address the unique challenges and circumstances of rare diseases. By adapting the framework to these findings, a generic framework can be developed to identify and assess unmet health-related needs across all disease areas, including rare diseases. This will inform healthcare policymaking, including the Belgian Presidency of the Council of the European Union, and enable evidence-based decision-making for rare diseases and beyond.