Background Rare diseases present a challenge to guideline implementation due to a low prevalence in the general population and the unfamiliarity of healthcare professionals. Existing literature in more common diseases references barriers and facilitators to guideline implementation. This systematic review aims to identify these barriers and facilitators in rare diseases from existing literature. Methods A multi-stage strategy included searching MEDLINE PubMed, EMBASE Ovid, Web of Science and Cochrane library from the earliest date available to April 2021, Orphanet journal hand-search, a pearl-growing strategy from a primary source and reference/citation search was performed. The Integrated Checklist of Determinants of Practice which comprises of twelve checklists and taxonomies, informed by 57 potential determinants was selected as a screening tool to identify determinants that warrant further in-depth investigation to inform design of future implementation strategies. Results Forty-four studies were included, most of which were conducted in the United States (54.5%). There were 168 barriers across 36 determinants (37 studies) and 52 facilitators across 22 determinants (22 studies). Fifteen diseases were included across eight WHO ICD-11 disease categories. Together individual health professional factors and guideline factors formed the majority of the reported determinants (59.5% of barriers and 53.8% of facilitators). Overall, the three most reported individual barriers were the awareness/familiarity with the recommendation, domain knowledge and feasibility. The three most reported individual facilitators were awareness/familiarity with the recommendation, agreement with the recommendation and ability to readily access the guidelines. Resource barriers to implementation included technology costs, ancillary staff costs and more cost-effective alternatives. There was a paucity of studies reporting influential people, patient advocacy groups or opinion leaders, or organisational factors influencing implementation. Conclusions Key barriers and facilitators to the implementation of clinical practice guidelines in the setting of rare diseases were at the individual health professional and guideline level. Influential people and organisational factors were relatively under-reported and warrant exploration, as does increasing the ability to access the guidelines as a potential intervention.

Background:Rare diseases are individually rare but collectively common. They present a challenge to guideline implementation due to a low prevalence in the general population and the unfamiliarity of healthcare professionals. Existing literature in more common diseases references barriers and facilitators to guideline implementation. This systematic review aims to identify these barriers and facilitators in rare diseases. We systematically identified barriers and facilitators to the implementation of guidelines in rare diseases from existing literature: A multi-stage strategy included searching MEDLINE PubMed, EMBASE Ovid, Cochrane library and Web of Science from the earliest date available to April 2021, Orphanet journal hand-search, a pearl-growing strategy from a primary source and reference/citation search.We identified and trialled frameworks for the narrative synthesis of barriers and facilitators selecting the Integrated Checklist of Determinants of Practice which comprises of twelve checklists and taxonomies, 57 potential determinants. It was developed as a screening tool to identify determinants that warrant further in-depth investigation to inform design of future implementation strategies. Results:Thirty-nine studies were included, most of which were conducted in North America (56.4%). There were 154 barriers across 35 determinants (33 studies) and 52 facilitators across 24 determinants (22 studies). Fourteen diseases were included across seven WHO ICD-11 disease categories.Individual health professional factors and guideline factors were the most commonly reported domains (56.5% of barriers and 65.4% of facilitators). Overall, the three most reported barriers were the awareness/familiarity with the recommendation, domain knowledge and availability of necessary resources. The three most reported facilitators were awareness/familiarity with the recommendation, agreement with the recommendation and ability to readily access the guidelines. Particularly relevant to rare disease health technologies, the domain of incentives and resources included barriers to implementation in the form of technology costs, ancillary staff costs and more cost-effective alternatives. There was no mention in the included studies of influential people, patient advocacy groups or opinion leaders, or organisational factors influencing implementation. Conclusion:Key barriers and facilitators to the implementation of clinical practice guidelines in the setting of rare diseases were at the individual health professional and guideline level. Influential people and organisational factors were relatively under-reported and warrant exploration, as does increasing the ability to access the guidelines as a potential intervention.

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