Genome sequencing as a first-line diagnostic test for hospitalized infants.

PURPOSE: SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research. METHODS: GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing. RESULTS: Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups. CONCLUSION: We describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results show the utility of GS because it provides early-in-life detection of clinically relevant genetic variations not detected by current clinical genetic testing, particularly for infants exhibiting certain phenotypic features.

Safe Newborn Sleep Practices on a Large Volume Maternity Service.

PURPOSE: Reinforcing safe infant sleep conditions in the hospital setting supports continuation of safe sleep practices after hospital discharge and should be considered the first line of defense for reducing risk for sudden unexpected infant death (SUID) and sudden infant death syndrome (SIDS) at home. The purpose of this study is to determine knowledge of perinatal nurses, nursing assistants, physicians, and ancillary personnel about safe sleep recommendations and implementation of safe sleep practices on the mother-baby unit. STUDY DESIGN AND METHODS: Nurses and other members of the perinatal health care team in a level III maternity service were invited to participate in a survey about safe sleep knowledge and practices. An audit for safe sleep adherence was conducted on the mother-baby unit for 120 mother-baby couplets over 1 year as a process improvement project. RESULTS: N = 144 surveys were completed; most participants (86%) were nurses. They had high levels of knowledge about safe sleep recommendations and 74% reported making at least one safe sleep adjustment during one shift per week. The most common modifications at least once per week were removing baby from a sleeping caregiver (30%) and removing items from baby's bassinet (26%). Safe sleep audit findings revealed 32 out of 120 couplets were not fully following safe sleep recommendations, with most common unsafe sleep practice metrics being items in the baby's bassinet (18%) and bassinets propped up (8%). CLINICAL IMPLICATIONS: During the hospitalization for childbirth, new parents can learn about safe sleep practices from the perinatal health care team. Sharing information and role modeling safe sleep practices can promote continuation of safe sleep practices for the newborn at home after hospital discharge.

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.

BACKGROUND: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents' experiences with GS as a first-line diagnostic tool for infants with suspected genetic conditions in the NICU. METHODS: Parents of newborns (N = 62) suspected of having a genetic condition were recruited across five hospitals in the southeast United States as part of the SouthSeq study. Semi-structured interviews (N = 78) were conducted after parents received their child's sequencing result (positive, negative, or variants of unknown significance). Thematic analysis was performed on all interviews. RESULTS: Key themes included that (1) GS in infancy is important for reproductive decision making, preparing for the child's future care, ending the diagnostic odyssey, and sharing results with care providers; (2) the timing of disclosure was acceptable for most parents, although many reported the NICU environment was overwhelming; and (3) parents deny that receiving GS results during infancy exacerbated parent-infant bonding, and reported variable impact on their feelings of guilt. CONCLUSION: Parents reported that GS during the neonatal period was useful because it provided a "backbone" for their child's care. Parents did not consistently endorse negative impacts like interference with parent-infant bonding.