741 - Decoding Disparities: Social Determinants of Health and Genetic Diagnosis in the Neonatal Intensive Care Unit

Publication Number: 741.4306

Hannah Park, Boston Children's Hospital, Boston, MA, United States; Taylor Montgomery, Harvard Pilgrim Health Care Institute, Baltimore, MD, United States; Anna-Thérèse Mehra, Boston Children's Hospital, New Canaan, CT, United States; Sonia Hills, Boston Children's Hospital, Boston, MA, United States; Courtney Verscaj, Boston Children's Hospital, Boston, MA, United States; Alissa M. D'Gama, Boston Children's Hospital, Dedham, MA, United States; Hadley S. Smith, Harvard Medical School, Boston, MA, United States; Monica Wojcik, Boston Children's Hospital, Boston, MA, United States

Background: Social determinants of health (SDOH) such as race, ethnicity, primary language, insurance status, and socioeconomic factors influence care provision and health-related outcomes for infants in the neonatal intensive care unit (NICU). However, the particular impact on access to a genetic diagnosis for these infants remains unknown.

Objective: To investigate the impact of SDOH on the genetic diagnostic odyssey for infants in a level IV neonatal intensive care unit (NICU).

Design/Methods: Retrospective observational cohort study of infants admitted between 2011-2023 to a level IV NICU who received genetics consultations. Data were abstracted from electronic medical records, and infants were excluded if a diagnosis had already been identified at the time of the consultation. The primary outcome was identification of a confirmed genetic diagnosis by 1 year of age; secondary outcomes included age at diagnosis, use of rapid exome or genome sequencing (ES/GS), and age at ES/GS. Using logistic regression models, we evaluated the impact of factors including race and ethnicity, primary language, neighborhood resources (as captured in the Childhood Opportunity Index (COI) 2.0), and infant clinical characteristics.

Results: We identified 1,183 infants who met inclusion criteria, 527 (44.5%) of whom were female. Median gestational age at birth was 37 completed weeks (interquartile range [IQR] 34-39 weeks), and the median age at genetics consult was 7 days (IQR 3-33 days). Race/ethnicity and COI categories are displayed in the Figure, with 68.7% families reporting white race. Additionally, 185 (15.7%) families spoke a primary language other than English, requiring interpreter services, and 546 (46.2%) were on public insurance. Rapid ES/GS became clinically available in 2018 and was used for 251 infants (21.2%), at a median age of 24 days (IQR 8-57.5 days).

Confirmed genetic diagnoses were identified for 333 infants, or 28.1% of the entire cohort, at a median age of 39 days (IQR 24-74 days). Race, ethnicity, and primary language were not associated with use of ES/GS or diagnosed status univariate analysis. In our multivariable model of odds of diagnosis, significant relationships were found only for COI and age at consultation, where increasing COI score and age at consultation were associated with lower odds of diagnosis (Table).

Conclusion(s): Across over 10 years of genetics consultations at a level IV NICU, race/ethnicity and primary language were not associated with the ability to find a genetic diagnosis. Additional investigation is needed to identify and address disparities in genomic medicine for these infants.

Table: Odds of Diagnosis
Logistic regression models were constructed to evaluate the impact of various exposures and covariates on the outcome of confirmed genetic diagnosis. (OR = Odds ratio, CI = Confidence interval)

Figure: Cohort demographics
Demographic features of the cohort are presented, including Childhood Opportunity Index 2.0 state-normed quintiles.