Abstract
Rett syndrome (RTT) is an X-linked disorder diagnosed either clinically or with genetic testing. Approximately 60% of girls with RTT have had genetic testing, most born after the test’s development. In previous studies, cost, reproductive plans, confirmation of diagnosis, and learning about the condition were important factors in whether or not to pursue genetic testing, and parents decided to pursue testing to obtain a diagnosis. No studies have focused on the impact a new genetic test has on parents of children with a condition that can be diagnosed clinically. The purpose of this study was to assess the impact genetic testing for RTT has had on parents of children with RTT and to understand what factors motivated parents to obtain or forgo testing. Parents of a child with a clinical and/or genetic diagnosis of RTT participated in an anonymous, online survey with closed and open-ended questions. Most parents (91.2%) obtained genetic testing for RTT, and indicated they trust a genetic diagnosis more than a clinical diagnosis. Parents reported testing either did not affect their family or gave them closure by confirming the clinical diagnosis. Parents most often pursued testing to confirm a diagnosis or because of physician recommendations. Parents cited the cost, test availability, and child’s age as barriers to testing. Parents of older children indicated they did not test because there is no cure for RTT and they are comfortable with the clinical diagnosis. Overall, 99.5% of parents indicated they were satisfied with their testing decision. Our results support the findings of previous studies but also suggest that the age of a child when genetic testing becomes available is an important factor in parents’ decisions to pursue testing. This study also suggests genetic testing may soon replace a clinical diagnosis of RTT.