ELSIcon2022 • Panel Session 16 • June 2, 2022
Julia Wynn, Paul Appelbaum, Robert Klitzman, Erik Parens
Understanding of the genetic etiology of autism has expanded and the decreasing cost and increasing availability of genetic testing is leading to more individuals receiving a molecular diagnosis. This increasing availability has raised the question of how a molecular diagnosis might impact individuals with autism and their family members. Studies of parents whose children have undergone diagnostic testing for rare genetic diseases have revealed complex effects, including relief at the end of the diagnostic odyssey, but also uncertainty about implications and loss of hope for the future. However, the proband's experience of receipt of diagnostic results is not well explored, and to our knowledge, has never been explored in autism. Understanding the effects of genetic results is crucial to inform best practices and resources for genetic counseling and testing for autism, with the goal of achieving the best possible outcomes for the patient and family. We conducted a longitudinal survey and semi-structured interview study of parents, adolescent probands and adult probands who are part of the SPARK (Simons Foundation Powering Autism Research for Knowledge). In SPARK, probands and their parents have genetic sequencing and receive results related to autism. Our study surveyed parents and probands prior to and one month following the receipt of results or the notification of the absence of results. The survey assessed the impact of results on identity, responsibility and life plans. We also interviewed a subset of parents after the receipt of results, as well as autism advocates to explore these themes in more depth.