Variants of unknown significance on chromosomal microarray analysis: parental perspectives

Area of Science:

• Genetics
• Pediatrics
• Psychology

Background:

• Chromosomal microarray (CMA) is the primary genetic test for idiopathic developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD).
• Variants of unknown clinical significance (VUS) identified by CMA can cause parental stress and anxiety.
• Understanding parental perceptions of VUS results is crucial for effective genetic counseling and support.

Purpose of the Study:

• To investigate parental perceptions of CMA results containing VUS in children with DD/ID/ASD.
• To assess parental understanding, perceived value, and emotional responses to VUS findings.
• To evaluate the role of genetic counseling in supporting parents with VUS results.

Main Methods:

• Retrospective mixed-methods study design.
• Surveys administered to parents of children diagnosed with DD/ID/ASD following a VUS result.
• Data collected on parental understanding, perceived value, child vulnerability, and parental stress.

Main Results:

• Parents found CMA important for understanding their child's diagnosis and were satisfied with the information provided.
• A majority of parents expressed high confidence in explaining VUS results to others.
• Genetic counseling was frequently cited as a source of support, positively impacting parental understanding and reducing stress.

Conclusions:

• VUS results from CMA are significant to parents of children with DD/ID/ASD.
• Genetic counseling plays a vital role in enhancing parental comprehension and support when VUS findings are present.
• Effective communication and support are essential for managing the impact of VUS results on families.