Next-generation sequencing experience: Impact of early diagnosis of usher syndrome

Purpose: The aim of this study was to assess the parental psychosocial implications, such as emotions and coping, of earlier diagnosis of Usher syndrome via genetic testing compared to parents of children who were diagnosed later via ophthalmologic findings. Method: Thirty-six participants were recruited through an online posting on the Usher Syndrome Coalition website. Two comparison groups were formed based on the method of diagnosis (i.e., genetic diagnosis vs. ophthalmologic diagnosis). Semi-structured interviews were recorded and transcribed. Comparison, using thematic and statistical analysis, of psychosocial impact on parents of children diagnosed early (via genetic testing) and later (based on ophthalmologic findings) was completed. Results: There were no statistically significant differences in emotions between the two groups of participants, suggesting that earlier diagnosis via genetic testing does not lead to increased anxiety or psychosocial issues for parents. Additional themes identified from parent interviews and their application to patient care are described. Conclusion: Earlier diagnosis of Usher syndrome via genetic testing does not cause a more harmful emotional impact than later diagnosis via ophthalmologic findings. In fact, there are multiple benefits to earlier diagnosis via genetic testing. Earlier diagnosis allows parents to emotionally process and prepare the child for independence throughout life.