"What does it mean?": uncertainties in understanding results of chromosomal microarray testing

Area of Science:

• Genetics
• Genomic Medicine
• Pediatric Health

Background:

• Chromosomal microarray (CMA) offers higher sensitivity than traditional cytogenetics for detecting genomic alterations.
• Interpreting CMA results can present challenges and uncertainties for families.
• Understanding family perspectives is key to improving genetic testing experiences.

Purpose of the Study:

• To explore how families comprehend and derive meaning from CMA test results.
• To identify the specific needs of families undergoing CMA testing.
• To inform strategies for enhancing understanding of complex genetic information.

Main Methods:

• Conducted semistructured interviews with 25 parents of pediatric patients.
• Included participants with pathogenic alterations or variants of unknown significance (VUS) on CMA.
• Employed qualitative analysis to interpret interview data.

Main Results:

• Identified three domains of understanding: result comprehension, scientific uncertainty, and personal meaning.
• Families frequently experienced incomplete comprehension and scientific uncertainty, regardless of result type (VUS or pathogenic).
• Misunderstandings were linked to non-geneticist delivery, telephone results, long waits for geneticists, and unreliable internet searches.

Conclusions:

• Differentiating understanding domains aids in identifying and managing uncertainties.
• Proposed interventions can improve clarity and address informational needs.
• Enhanced communication and support are vital for families navigating CMA testing.