Журнал клинической и медицинской геномики

Background: Although Chromosomal Microarray (CMA) genetic testing is currently officially recommended as a part of the routine care in the Autism Spectrum Disorders diagnostic process, little is known about parents’ emotional responses regarding taking their children to undergo CMA genetic testing. To ensure adequate access to and utilization of genetic technologies and dispel the concerns regarding CMA, it is critical to understand parents’ emotional responses to this test.

Method: We conducted qualitative interviews using a purposive sampling technique with 45 parents of children with ASD in rural eastern North Carolina. This geographical location maintains one of the highest rates of families who are Medicaid-eligible and underserved parents of children with ASD in North Carolina.

Results: We audio-taped all interviews, transcribed them verbatim, and conducted content analysis to identify themes and subthemes. Approximately 37% of our participants had more than one child with autism. Almost half of our parents (42.8%) were ethnic minorities and all Hispanic parents (26.3%) either had no health insurance or were Medicaid-eligible. Our preliminary results demonstrate that negative emotions, such as fear or guilt might be the factors most likely associated with parents’ decisions regarding taking their children to undergo CMA testing.

Conclusion: The most salient research finding is that over half of the participants (58%) reported having negative emotions toward CMA. Among these negative emotions, the feeling of fear, worry, anxiety, self-blaming and stress were the most frequently reported responses regardless parents’ educational level, income and ethnicity. Pretesting counseling that addresses parents’ negative emotions would be in urgent need to dispel parents’ concerns related to CMA.