ELSIcon2022 • Paper • May 27, 2022
In 2017 my 7-month old critically ill daughter, Abby, along with my husband and I had trio exome sequencing. Doctors recommended testing to help understand why Abby was so sick, although it would not impact her treatment or prognosis. Abby died the week we received the sequencing results, which did not provide any explanation for her condition. As genome sequencing is increasingly used in pediatric critical care settings it is important to understand families’ perspectives to improve the process. In this paper presentation, I will describe my experience as a parent deciding to undergo and receive our family’s sequencing results and reflect as an ELSI researcher on the implications of that experience for improving clinical practice. Specifically, I will explore how the informed consent process for genome sequencing and return of results discussion can be improved to accommodate families that are going through the trauma of caring for a sick or dying child. Additionally, there is ongoing debate about the kinds of utility families may experience through sequencing. Despite receiving negative results, I found utility in the information and am grateful to have had sequencing. Sequencing felt like a necessary step to ensure we had done everything possible to help Abby. Although the process, including informed consent and return of results discussion, could be improved, my positive experience reflects what other research studies with parents in similar situations have found. Going forward, how can we help families navigate their potential desire for sequencing and the complex decision-making that is required?