Developmental-Behavioral Pediatrician Connecticut Children's University of Connecticut School of Medicine Hartford, Connecticut, United States
Background: The American College of Medical Genetics and Genomics (ACMG) recommends clinical genetic testing as standard of care for children diagnosed with an autism spectrum disorder (ASD). Clear diagnostic results can inform medical screening and treatment and may reduce family stress related to uncertainty about ASD cause. Genetic testing, however, often yields uncertain results which can be difficult for families to understand and can contribute to undue stress and anxiety.
Objective: To explore the decision-making process and viewpoints regarding genetic testing and understanding of results in a racially/ethnically diverse sample of families whose children have been diagnosed with ASD.
Design/Methods: Seventeen participants, of whom nine identified as a racial/ethnic minority, were recruited from another genetic study. Participants completed a semi-structured interview with research staff not involved in their child’s direct clinical care, and completed several surveys exploring factors such as health and genetic literacy. Interviews explored family experiences with the ASD diagnostic process, genetic testing and interpretation of the results. Consistent themes were independently identified through open coding and secondarily organized with the assistance of NVivo, a qualitative data analysis software.
Results: Qualitative analysis of the interviews have identified themes related to the importance of clear discussion of genetic results; variation in perceived utility of genetic testing, especially with unclear or negative results; the strong desire to participate in genetic research to help society; and motivation to understand the underlying causes of their child’s ASD diagnosis. Understanding these themes will assist in developing educational materials, discussion points, and guidelines for returning genetic results. Conclusion(s): Analysis of factors that bear on the genetic testing decision, and on response to results will support needed improvements in provider-family communication regarding genetic testing. In addition, given the racial/ethnic diversity of our sample, findings may promote equitable implementation of genetic testing guidelines through development and evaluation of culturally effective, family-oriented counseling materials.
Authors/Institutions: Thyde Dumont-Mathieu, Connecticut Children's Medical Center, Hartford, Connecticut, United States; Rosalie Lyons, Connecticut Children's Medical Center, Hartford, Connecticut, United States; Jennifer Twachtman-Bassett, Connecticut Children's Medical Center, Hartford, Connecticut, United States; Louisa Kalsner, University of Connecticut School of Medicine, Farmington, Connecticut, United States