Visualising difference, similarity and belonging in paediatric genetics

Area of Science:

• Pediatric Genetics
• Medical Sociology
• Child Development

Background:

• Paediatric genetics is crucial for diagnosing developmental delays, health issues, and physical characteristics in children.
• Identifying new and complex genetic variations leads to uncertainty regarding their impact on child development and future health.
• Existing diagnostic processes involve detailed physical examinations to detect genetic variations.

Purpose of the Study:

• To explore how genetic explorations, particularly those involving uncertainty, construct notions of childhood difference and normality.
• To analyze the role of visual dynamics in shaping understandings of children within genetic consultations.
• To investigate how images in family narratives and online resources influence the perception of genetic syndromes.

Main Methods:

• Ethnographic study of a genetics clinic.
• Analysis of visual elements within consultations, family stories, photographs, and online genetic syndrome databases.
• Qualitative interpretation of how visual cues influence perceptions of children.

Main Results:

• Visual interpretations within and outside the clinic create varied understandings of children.
• Children are sometimes positioned as 'other' but also recognized as 'normal' or 'one of us'.
• Uncertainty in identifying rare genetic variations allows for multiple, non-fixed interpretations of the child's condition.

Conclusions:

• The visual dimension is significant in constructing childhood difference and normality in paediatric genetics.
• Uncertainty surrounding rare genetic variations prevents the rigid categorization of children as 'genetically other'.
• Genetic explorations can lead to fluid and evolving understandings of a child's identity and condition.