For those with undiagnosed conditions, the “diagnostic odyssey” can be long, expensive, and marked by uncertainty as patients and their families search for a diagnosis. The North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing 2 (NCGENES 2) study aims to shorten the diagnostic odyssey of children with suspected genetic conditions by comparing outcomes of patients who undergo diagnostic exome sequencing at an early point in the diagnostic process to outcomes of patients who undergo usual care. Given that recruitment started in August of 2018, was temporarily suspended due to COVID-19, and is currently ongoing, we sought to understand whether and how participants’ diagnostic odysseys have been impacted by COVID-19. Therefore,we interviewed 25 NCGENES 2 parent participants about howCOVID-19 has impacted their daily lives as well as their child’s medical care and diagnostic odyssey. Analysis is ongoing, but preliminary findings indicate that parents perceived a range of burdens due to the COVID-19 pandemic. These burdens include having to deal with isolation due to social distancing, becoming surrogate teachers through online schooling, and, for some, actually getting COVID-19. When asked about interruptions to their child’s medical appointments and care, participants did not describe delays in the diagnostic odysseys as many doctor’s appointmentswere not interrupted due to COVID-19. However, almost all parents discussed the difficulties of getting needed in-person therapies, like speech, occupational, or physical, for their children either because therapists were no longer offering in person meetings or because parents were not comfortable meeting in person. Some parents also noted difficulties in conducting virtual therapy: having to hold phones while also helping their children and how their children “don’t perform as well for mom” as they do for the therapists. Because of the lack of or delays in therapies, many parents said that their children were “not making progress.” In addition to these burdens, some parents identified benefits of the COVID-19 pandemic, including that social distancing caused fewer colds or other illnesses to pass through their households. Others discussed feeling lucky that they have not been impacted financially during this time. Overall, we found that NCGENES 2 participants’ daily lives have been greatly impacted by COVID-19 because of social distancing and online schooling. However, these findings also indicate that it is not the diagnostic odyssey that was interrupted by the COVID-19 pandemic but the therapeutic odyssey. We conclude with a discussion of the importance of focusing on the therapeutic odyssey in both research and clinical practice.
eP466 The impact of COVID-19 on pediatric diagnostic odysseys