OBJECTIVES: Partnering with patients and caregivers as co-authors of peer-reviewed articles can help identify and fill important gaps in knowledge about rare diseases. This is being increasingly encouraged and makes sense, especially for articles describing patient experiences. Here, we examined the practice of including patients and caregivers as byline authors of peer-reviewed articles on the experiences of patients with rare diseases.

METHODS: Embase and Medline were searched on June 20, 2024 for peer-reviewed articles in English on the experiences of patients with rare diseases using a validated search filter (Wessels et al. 2016). Articles with patients, caregivers, or patient organizations as affiliations were selected automatically using search terms and then screened manually.

RESULTS: 197 articles with patients, caregivers, or patient organizations as author affiliations were identified. Since the first published in 2004, the number has increased steadily each year. The 197 articles identified represent 13% of the 1494 total peer-reviewed articles found on the experiences, views, and values of patients with rare diseases published between 2004 and 2024. The proportion increased steadily with time to 22% in 2021 but has fallen steadily since. The most frequent article types were qualitative study/survey (31%), consensus/guideline/recommendation (22%), and reviews (16%). Almost all patient or caregiver authors (95%) were affiliated with rare disease associations. The term “patient author”, which has been promoted recently, was listed as the affiliation for only a single article.

CONCLUSIONS: Patients and caregivers are increasingly visible as co-authors of peer-reviewed articles on the experiences, views, and values of patients with rare diseases. Partnering with patients and caregivers as co-authors should be further encouraged. Further, to better understand the role and impact of patient and caregiver authors, a consistent way of identifying them in publication databases is needed.