Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative...

Area of Science:

• Medical Genetics
• Neurodevelopmental Disorders
• Healthcare Decision-Making

Background:

• Healthcare decisions for rare genetic neurodevelopmental disorders are complex and value-laden.
• Parents are central to decision-making for individuals with these conditions.
• Incorporating parental values into the GRADE Evidence-to-Decision framework is essential for guideline development.

Purpose of the Study:

• To explore parental values in healthcare decision-making for rare genetic neurodevelopmental disorders.
• To understand what matters to parents regarding healthcare decisions and the decision-making process.

Main Methods:

• Qualitative study involving 18 parents of individuals with 15 rare genetic conditions.
• Semi-structured interviews were conducted to gather data.
• Reflexive thematic analysis was used to identify key themes.

Main Results:

• Key values identified include proportionality (balancing harms and benefits, feasibility) and equality (inclusive, accessible, continuous healthcare).
• Decision-making was characterized as a collaborative process.
• Acknowledging parental knowledge, respecting autonomy, and providing support were crucial.

Conclusions:

• Findings support the Evidence-to-Decision framework's applicability for rare genetic neurodevelopmental disorders.
• Proportionality and equality are key criteria reflected in the framework.
• Practice implications include focusing on family impacts and integrating parental lived experiences into value judgments.