Genome sequencing (GS) can shorten the diagnostic odyssey for infants and children with suspected genetic conditions, but is often not performed during the neonatal period. It is unknown what impact the use of GS in critically-ill infants could have on parents and families. In particular, it is unknown whether receiving a genetic diagnosis early in infancy affects parental experience of guilt for the child’s condition or affects parent-baby attachment. In SouthSeq, part of the Clinical Sequencing Evidence-Generating Research Consortium, we evaluated GS as a first-line diagnostic tool for critically-ill infants with suspected but undiagnosed genetic conditions. Infants with findings suggestive of a genetic condition underwent GS with Sanger confirmation in probands and in parent samples, when available, to determine inheritance. Enrollment took place at participating nurseries in Alabama, Mississippi, Louisiana, and Kentucky. Families were randomized to receive GS results from either a genetic counselor or a non-genetics provider, typically a neonatologist. Using a purposive sampling strategy designed to overrepresent groups historically under-represented in biomedical research, families were selected to participate in interviews one to six months following disclosure of results. Interviews focused on parental experiences with participating in GS during the neonatal period, often in the context of neonatal intensive care. Of 640 infants who underwent GS in SouthSeq, 62 families participated in interviews. Parents were given the option of participating in interviews together with the child’s other parent or separately. A number chose separate interviews, resulting in 76 total interviews being conducted. When asked whether they felt receipt of their child’s results took place too early in their journey, too late, or at about the right time, most parents reported that results were received at the right time, typically when the child was 2-4 months of age. Many felt that if results had been received earlier in their infant’s course, while the child’s condition was more acute, they would have been too overwhelmed to process the result adequately. Many parents reported difficulty bonding with their infant, although they were dismissive of the possibility that the genetic result impaired bonding. Instead, they cited emotional distancing as a form of self-preservation, an overwhelming NICU environment, and the inability to take their child home soon after birth. Those who received a genetic diagnosis found this information useful for a number of reasons, including understanding the etiology of their child’s condition, reproductive decision-making, and long-term planning for the care of the child. Parents valued access to GS during the neonatal period. Although guilt and difficulty bonding were common experiences, most parents rejected the idea that these challenges were exacerbated by GS results. Although follow-up interviews would be useful to develop a longitudinal understanding of the impact of GS during the neonatal period, these findings support the use of GS during this period. In particular, these findings do not support delaying genetic testing, including GS, in order to avoid interfering with parent-baby bonding or to avoid overwhelming families early in their journey caring for a child with a congenital condition.
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