Yonsei University (Republic of Korea), Korea, Republic of
Introduction: Although rare diseases (RDs) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RDs in public settings proves challenging due to the limited nature of existing evidence. Rare conditions require the involvement of a wide range of stakeholders in order to promote general awareness and garner political support. This review aims to the existing literature based on RDs surveys, including the stakeholders involved, and proposes potential research priorities and initiatives for policy-making related to RDs. Articles were downloaded and analyzed from across five electronic databases and 115 studies were included.
Results: Across 115 studies, the main research participants were patients and/or caregivers (n = 77, 67.0%), health professionals (n = 18, 15.7%), and the public (n = 7, 6.1%). The studies discussed RDs in general (n = 46, 40.0%), endocrine, nutritional, and metabolic diseases (n = 20, 17.4%) and other RDs. Experiences with RDs were examined by more than half of the selected studies (n = 74, 64.3%), followed by the opinions of stakeholders (n = 24, 20.9%). Most of the studies used surveys in order to collect relevant data (n = 114, 99.1%). Additionally, the majority of the studies were conducted in high-income countries (n = 92, 80.0%) and rarely in middle and low-income countries (n = 12, 13.8%).
Conclusion: Stakeholder research on RD reveals that there are significant instances of unmet needs and various challenges faced by the medical system in dealing with RDs.
