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. 2025 Apr:165:78-86.
doi: 10.1016/j.pediatrneurol.2025.01.018. Epub 2025 Jan 27.

Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients

Jordan J Cole  1 , Angela D Sellitto  2 , Laura Rosa Baratta  3 , Julia B Huecker  3 , Joyce Joy E Balls-Berry  2 , Christina A Gurnett  2
Affiliations

Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients

Jordan J Cole et al. Pediatr Neurol. 2025 Apr.

Abstract

Background: To investigate clinical, social, and systems-level determinants predictive of genetics clinic referral and completion of genetics clinic visits among pediatric neurology patients.

Methods: Electronic health record (EHR) data were extracted from pediatric patients (0-18 years) evaluated in pediatric neurology clinics at a single tertiary care institution between July 2018 and January 2020. Referral and referral completion rates to genetics clinics were compared among non-Hispanic single- or multiracial Black (Black) versus non-Hispanic White (White) patients using bivariablee analysis. Other ethnoracial identities were excluded due to small numbers. Variables associated with genetics clinic referral and visit completion were identified using logistic regressions.

Results: In a cohort of 11,371 pediatric neurology patients, 304 were referred to genetics clinic and 229 (75.3%) completed genetics clinic visits. In multivariable analyses of Black and White patients (n = 10,601), genetics clinic referral rates did not differ by ethnoracial identity but were associated with younger age, rurality, neurodevelopmental disorder diagnosis, number of neurology clinic visits, and provider type. Genetics clinic visit completion rates were associated with number of neurology clinic visits and ethnoracial identity, with White patients twice as likely as Black patients to complete the visit (adjusted odds ratio=2.18; 95% confidence interval 1.06-4.48).

Conclusions: Although no disparity in genetics clinic referral rates was identified, White patients were twice as likely as Black patients to complete a genetics clinic visit after referral. Further work is needed to determine whether this is due to systemic/structural racism, differences in attitudes toward genetics, or other factors.

Keywords: Ethnoracial disparities; Genetic testing; Health equity; Neurogenetics; Social determinants of health.

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Conflict of interest statement

Declaration of competing interest J.J.C. has received honoraria from the American Academy of Neurology and the Gatlinburg Conference. J.E.B.-B. is a consultant for the Department of Defense, has received honoraria and payment for travel from the University of Alabama, is a member of the advisory board for Genentech/Roche and Duquesne University, and is on the board of directors for the Association for Clinical and Translational Science and Health Literacy Media. C.A.G. is on the advisory board for the MED13L Foundation and Artists First.

References

    1. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. Nov 2021;23(11):2029–2037. doi:10.1038/s41436-021-01242-6 - DOI - PubMed
    1. Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. Apr 2023;32(2):266–280. doi:10.1002/jgc4.1646 - DOI - PubMed
    1. Malinowski J, Miller DT, Demmer L, et al. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. Jun 2020;22(6):986–1004. doi:10.1038/s41436-020-0771-z - DOI - PMC - PubMed
    1. Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for the epilepsies: A systematic review. Epilepsia. Feb 2022;63(2):375–387. doi:10.1111/epi.17141 - DOI - PubMed
    1. Haviland I, Daniels CI, Greene CA, et al. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. Pediatr Neurol. Jan 2023;138:71–80. doi:10.1016/j.pediatrneurol.2022.10.006 - DOI - PMC - PubMed

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