A proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines

Objective

Develop a proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines (CPGs) based on a systematic review of qualitative literature.

Methods

A systematic review was conducted using medical subject heading-term and text-word search strategies to identify qualitative literature on patient living with rare diseases (PLWRD) involvement during CPG development and in research studies. Databases were searched for literature in English or Spanish, published until April 2024.

Results

64 publications were included in this review, underscoring the critical importance of PLWRD involvement in the CPGs development. The studies reported different strategies to facilitate the involvement of patients and collect relevant information from the patient community. The Guideline Development Group and the Core Writing Group should include representatives of the patient community, closely communicating with a patient advisory group to facilitate a broader patient perspective. Patient representatives should be engaged throughout all stages of CPG development, from defining the scope to implementation.

Conclusion

This proposal offers a framework for actively involve PLWRD throughout the CPGs development process, aiming to produce more inclusive and practical recommendations that better reflect real-world patient needs.