'More than a box of puzzles': Understanding the parental experience of having a child with a rare genetic condition"

Abstract

Background: Chromosomal microarray (CMA) testing has been adopted as the first-tier diagnostic test for developmental disabilities. However, determining the clinical significance of the results is often complex. This qualitative study seeks to explore parental interpretation, adaption and coping in the context of ambiguous rare genetic findings in order to support parental adjustment and wellbeing.

Methods: In-depth interviews were conducted with parents (n = 30) of children identified with a rare genetic chromosomal abnormality.

Results: Three major themes were identified following a thematic analysis: 'Learning of the Genetic Diagnosis', "The Reality of the Rarity' and 'Beyond Genetics: The Child Takes Centre Stage'. Findings demonstrated that parental adjustment to their child's genetic results are mediated by several factors including child difficulties and stage of development, clinician communication, perception of genetics, intrinsic coping strategies, access to practical and emotional support as well as broader contextual experiences.

Conclusion: This study highlights the importance of considering the parental perspective in the context of genetic testing in clinical practice.

Keywords: Chromosomal abnormality; Parent perspective; Qualitative; Rare variant; Variant of uncertain significance.