Empowerment of parents of infants with congenital heart disease after rapid genome sequencing : April 11, 2025, revised June 20, 2025

Abstract

Background: Despite rapid genome sequencing (rGS) being utilized as a first-tier genetic test for infants with congenital heart disease (CHD), little is known about its impact on parental empowerment. Methods: To address this gap, parents of infants with CHD (≤ 1 year old at the time of inpatient rGS) were asked to participate in an online survey, which measured empowerment using an adapted version of the Genomic Empowerment Scale (GEmS). The scale consists of four subscales that measure emotional management, meaning making, seeking information and support, and implications and planning surrounding a child's diagnosis. Subscale scores were standardized for comparison and coded as above (+) or below (-) the mean. Based on the standardized score pattern (+/-) in each subscale, an empowerment profile was assigned to each participant. Empowerment profiles were analyzed for trends based on CHD type (left ventricular outflow tract obstruction (LVOTO) vs. non-LVOTO), genetic test result type, and number of genetics visits. Results: The most common empowerment profile was the 'Engaged but Worried Planner' (15/37 = 41%). This empowerment profile was more common in parents of infants with non-LVOTO CHD (73.3%) than those with LVOTO CHD (26.7%). Conversely, there was little difference in empowerment profile type between rGS result type. Parents whose child had ≤ 3 genetics visits displayed the 'Engaged but Worried' profile most often, whereas those with ≥ 4 visits had more even distributions between profiles. Conclusion: Understanding empowerment profiles in this population may help guide practitioners to empower parent decision-making, emotional management, and planning for the future of their child.