GENETIC LITERACY
Project aims to arm parents with tools for diagnosis, treatment of autism spectrum disorder
A researcher at East Carolina University has been studying what parents of children with autism spectrum disorder know and how they make decisions about genetic testing.
Dr. Lei Xu, assistant professor in the Department of Health Education and Promotion in the College of Health and Human Performance, recently completed the first phase of a community-based research project on chromosomal microarray (CMA) genetic testing with parents of children with autism.
“To our knowledge, there is no study that has attempted to identify genetic literacy, educational needs and decisions associated with genetic testing among parents of children with autism spectrum disorder in northeastern North Carolina,” Xu said.
Autism spectrum disorder refers to a group of developmental disabilities that affect how a person understands what they see, hear or sense. People with ASD typically have difficulty understanding verbal and nonverbal communication and learning appropriate ways of behaving and interacting socially, according to the Autism Society of North Carolina.
Boys are diagnosed more often than girls. Data shows the number of children identified with autism in North Carolina (one in 58) is higher than the national average (one in 68).
Through the course of 45 interviews with eastern North Carolina parents, none had heard of CMA testing or talked with genetic counselors or other health care providers about the possibility of genetic testing, Xu said.
Despite that, a majority – 80 percent – said they would prefer to have their children tested if it would help in early intervention efforts or provide additional data for research into autism. Yet many parents are not able to have their children tested due to cost, concerns about the procedure and lack of transportation to a testing facility, she said.
In general, genetic tests can help diagnose or determine the severity of a disease, guide decisions about treatment or identify genes that can be passed on to children, according to the National Human Genome Research Institute.
While CMA genetic testing cannot identify the severity of autism, it’s increasingly used to detect a certain type of genetic variation among children and families affected with autism spectrum disorder and a few other developmental conditions, Xu said.
Dr. Ken Soderstrom, an associate professor of pharmacology in the Brody School of Medicine, was a participant in Xu’s study. He has identical twins, 15-year-old boys, with autism. The boys were diagnosed at an early age – about 18 months – and have been in early intervention programs since that time. They will attend high school this fall.
“Autism is a very difficult disease to study,” Soderstrom said. Deficits in social interaction and vocal communication hamper some traditional research efforts.
He and his wife opted not to have CMA testing due to cost and the distance to a testing facility. “This sort of test doesn’t help you take care of your kids any better,” Soderstrom said.
Xu said she hopes to bridge the gap between geneticists and parents in the new research field of public health genomics.
“It is crucial to provide educational interventions, particularly linguistically and culturally relevant programs, to help parents make more informed decisions when taking their children to undergo CMA genetic testing,” Xu said. Pre-test counseling and health education is needed, she said.
If successful, the project can increase awareness of genomic tools for accurate early diagnosis and treatment and help health care professionals understand parents’ decisions about genetic testing for autism spectrum disorder, Xu said.
Xu has collaborated with Dr. Linda Crane Mitchell, associate professor in the Department of Child Development and Family Relations in the College of Human Ecology, and Dr. Alice Richman, assistant professor in the Department of Health Education and Promotion. ECU students Kaitlyn Clawson and Lin Sun also are helping with data analysis, manuscript preparation and conference presentations.
In the next phase, Xu will recruit more than 150 participants for a survey being designed based on the findings from the interview phase of her study. Sponsored by the Center for Sustainability at ECU, the survey will explore parents’ knowledge, educational needs and perceptions related to environmental triggers and autism.
The research will be presented this fall at the 143rd American Public Health Association Annual Conference and Genomics Forum in Chicago.