Are Parents Ready for Chromosomal Microarray Genetic Testing of Their Children? – A Qualitative Report from Parents of Children with Autism Spectrum Disorders in Rural Settings

Chromosomal Microarray Analysis (CMA) is a robust technology officially recommended and clinically offered to children affected with Autism Spectrum Disorders (ASD). However, CMA genetic testing might raise ethical, legal and social issues such stigmatization, health insurance concerns and test misconceptions. Therefore, it is essential to understand what might motivate or inhibit test decisions among parents of children with ASD.  We conducted semi-structured, individual, face-to-face interviews (English/Spanish) with autistic children’s parents from local autism communities in Eastern North Carolina. We audio-taped all interviews, transcribed them verbatim, and employed content analysis to identify themes and subthemes. Our final sample was comprised of 43 parents with a mean age of 40 years. Among these parents, 57% were spouses (biological mothers and fathers of the child/children with ASD). One fourth of parents were low-income, underserved and Hispanic. Our findings indicate that none of our parents had heard of CMA genetic testing or had met with a genetic counselor or other health care provider about CMA. The majority of parents (65%) reported that they would like to have their children tested if this test is offered to them. The most cited perceived benefits to having the test were having knowledge for early intervention and the benefits to aiding autism genetic research. However, our parents raised many test concerns, for instance, cost, CMA test procedure, stigmatization and transportation. Our findings highlight the need for culturally-appropriate educational interventions targeted at increasing parental knowledge of and accessibility to CMA testing among parents of children with ASD.