Exploring Parents' Values in Healthcare Decision‐Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development

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BACKGROUND: Healthcare decision-making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value-laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to incorporate their values into the GRADE Evidence-to-Decision framework used in guideline development. METHODS: The aim of this qualitative study was to explore the values of parents of individuals with rare genetic neurodevelopmental disorders in healthcare decision-making. We explored what mattered to parents in relation to healthcare decisions and in the process of healthcare decision-making. Eighteen parents of individuals with 15 (ultra)rare genetic conditions participated in semi-structured interviews. Reflexive thematic analysis was used to generate themes from the data. RESULTS: Important values for making healthcare decisions were proportionality, considering balancing harms against the need to treat and feasibility for the family, and equality, with a need for inclusive, accessible and continuous healthcare. The process of decision-making in healthcare was described as a collaborative effort, in which acknowledging parental knowledge and respecting and supporting autonomy were important themes. CONCLUSIONS: The findings support the applicability of the Evidence-to-Decision framework to guideline development for rare genetic neurodevelopmental disorders, as proportionality and equality are reflected in its criteria. Implications for practice include explicit attention to family-level impacts and incorporating lived experience of parents to inform value judgements. Healthcare decision-making was described as a collaborative process, with a need for support and space for parents to clarify and communicate their values.

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