Uncertainties of healthcare professionals and informal caregivers in rare diseases: A systematic review.

Uncertainties, defined as metacognitive awareness of ignorance, are an essential part of medicine. Consequently, healthcare professionals (HCPs) as well as informal caregivers face them inevitably. Depending on the interpretation of uncertainties and the existence of available resources to cope with them, uncertainties might have serious consequences. Studies showed higher burnout-rates and reduced psychosocial well-being of HCPs and informal caregivers. Especially rare diseases are linked with a variety of uncertainties, as knowledge about specific diseases is often limited which might result in a higher burden of both groups. This review aimed at summarizing studies dealing with HCPs' and informal caregivers' uncertainties in the context of rare diseases. We searched five databases and screened 11.236 records for title/abstract and 105 records for full-text. Finally, 24 studies were subjected to quality assessment and data extraction using narrative synthesis. Five studies focused on HCPs, 19 on informal caregivers. Results were clustered using an existing taxonomy differentiating three categories of uncertainty (scientific, practical and personal) and issues, specifying particular uncertain situations or circumstances. Only five of the included studies investigated the perspective of HCPs, indicating a research gap of the topic within this group. Reports were mostly limited to practical and scientific uncertainties. Concerning scientific uncertainties, information procurement showed up as a special facet in rare diseases. Informal caregivers reported the whole variety of scientific, practical and personal uncertainties, leading to psychological consequences such as fear, confusion and worry. This review provides an overview of categories and assigned issues of uncertainties HCPs and informal caregivers experience in relation to rare diseases and psychological consequences. Results can be used in the development of trainings, to teach effective coping strategies when dealing with uncertainties or offers of psychosocial support.