Abstract:
Whole exome sequencing (WES) has grown to be one of the most utilized genetic tests in the pediatric population due to improved diagnostic rates, which can lead to the end of the diagnostic odyssey. However, many parents have criticized the long waiting period to get results back. Other medical waiting periods have been shown to cause parents increased levels of anxiety, depression, and stress, but no research has ever explored the waiting period for clinical WES. This study conducted semi-structured interviews with parents of children under age 12 to explore their feelings, perspectives, and coping mechanisms while they waited to receive results from clinical WES. Four interviews with parents were completed, transcribed, and analyzed in an inductive approach to identify themes. Four themes were identified: (1) anxiety and depression during the waiting period, (2) varying reactions to possible results, (3) coping mechanisms used during this waiting period, and (4) recommendations to the medical team. All participants reported varying levels of anxiety during this time period, used various coping mechanisms, and overall understood the types of possible results. Participants also had various recommendations to the medical team including a check-in during the waiting period, providing additional resources about WES, and giving information on appropriate support groups. This study demonstrates the various emotions and perspectives of parents undergoing WES, how they are coping with these emotions, and what the medical team can do to best support parents and families during this waiting period.
