Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling

Area of Science:

• Genomic Medicine
• Pediatric Diagnostics
• Medical Sociology

Background:

• Genome-based technologies like chromosome microarray (array comparative genomic hybridization [aCGH]) are advancing disease understanding and management.
• aCGH is a key diagnostic tool in pediatric care, yet parents' perceptions of its value remain underexplored.
• Understanding parental experiences is crucial for optimizing the utility of genomic testing.

Purpose of the Study:

• To explore parents' lived experiences and perceptions of value regarding aCGH testing in pediatric settings.
• To investigate how parents make meaning of diverse aCGH test results (pathogenic, uncertain, benign).
• To characterize the concept of personal utility and the role of uncertainty in parental experiences with genomic testing.

Main Methods:

• Conducted semi-structured interviews with parents of 21 children who underwent aCGH testing.
• Interviews were performed in-person or via telephone.
• Thematic analysis of interview transcripts was conducted using interpretive description principles.

Main Results:

• Parents perceive intrinsic value in aCGH for obtaining definitive answers about their child's condition.
• Parents find instrumental value in aCGH results for guiding medical care, accessing services, and family planning.
• Uncertainty, frustration, fear, and hope are experienced by parents irrespective of the aCGH result's significance.

Conclusions:

• Parental experiences underscore the multifaceted nature of personal utility in genomic testing.
• Uncertainty is a pervasive psychosocial outcome associated with aCGH testing, regardless of result interpretation.
• Further research on pre-test counseling and its impact on psychosocial outcomes is essential for improving patient care.