66 - Exploring Parent Perspectives of Genomic Autopsy for Infant Mortality

Publication Number: 4065.66

Gwendolyn Strickland, Boston Children's Hospital, Boston, MA, United States; Malika Sud, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, United States; Katherine Anderson, Boston Children's Hospital, Boston, MA, United States; Casie A. Genetti, Boston Children's Hospital, Boston, MA, United States; Monica Wojcik, Boston Children's Hospital, Boston, MA, United States

Background: Postmortem genomic sequencing, or genomic autopsy, can be utilized to increase diagnostic yield of infant mortality cases, however, the psychosocial utility of genomic autopsy for infant deaths remains poorly characterized.

Objective: To explore parent experiences with genomic autopsy in the investigation of infant deaths.

Design/Methods: We conducted semi-structured qualitative interviews with parents of infants who died prior to one year of age and underwent genetic evaluation following loss. At the time of interview, families had received either 1) a definitive or candidate genetic diagnosis or 2) no diagnosis or a negative result from the research team. We examined parental experiences, focusing on feelings regarding genetic testing, the impact of diagnostic outcomes, and the perceived value of genetic testing in the bereavement process. We used inductive thematic analysis to create a codebook and characterize participant experiences.

Results: 15 parents of infants who underwent postmortem genetic testing were interviewed. Most parents were biological mothers (14, 93%), identified as white (12, 80%), and married (14, 93%). Most families had received a negative result or no diagnosis (10, 67%).

Overall, parents described personal and altruistic reasons motivations for genetic testing, including seeking explanations for their child's health, concern for recurrence, and advancing the field of genetics to benefit other families. Many parents who received a genetic diagnosis described gaining an understanding about their child's health and knowledge to inform their future pregnancy risks. Parents without a genetic diagnosis described mixed feelings of uncertainty in family planning and reassurance gained from ruling out genetic diagnoses with a negative result.

Furthermore, we identified varied sources of grief support. Some parents described isolation and challenges in connecting with other parents and support systems. Many described methods of continuing their child's memory through cherished objects, rituals, and traditions that maintained their child's presence in their lives. Some described the act of genetic testing and participation in research as an opportunity to maintain their child's memory.

Conclusion(s): Genomic autopsy provides meaningful psychosocial benefits for families following infant loss, even in the absence of a definitive genetic diagnosis. Postmortem genetic testing can aid in achieving diagnostic clarity, guide future reproductive decision making and family planning, and has potential to positively impact the parental bereavement process after loss.

Parental Motivations and Perceived Impact of Genomic Autopsy