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Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

Abstract

Background

Identifying a precise genetic diagnosis can improve outcomes for individuals with rare disease, though the resources required to do so may impede access and exacerbate healthcare disparities leading to inequitable care. Our objective was therefore to determine the effect of multiple sociodemographic factors on the yield of the diagnostic evaluation for genetics outpatients.

Methods

This is a retrospective cohort study from 2017 to 2019 of outpatient genetics referrals at a pediatric academic tertiary care center. Exposures included: primary language, insurance type, and neighborhood resources (via the Childhood Opportunity Index, COI). The primary outcome was identification of a genetic diagnosis within 2 years of the initial clinic visit.

Results

COI quintile was not significantly associated with the odds of diagnosis but was significantly associated with clinic attendance, with lower neighborhood resources leading to incomplete referrals. Limited English proficiency was associated with a higher odds of diagnosis, though at an older age. Public insurance was associated with increased access to genetic testing.

Conclusions

Lower neighborhood resources are negatively associated with clinic attendance. Our findings further suggest delays in care and a referral bias for more severe phenotypes among families with limited English proficiency. Improved access to clinical genetics is needed to improve diagnostic equity.

Impact

  • The resources required to identify a genetic diagnosis may impede access and exacerbate healthcare disparities leading to inequitable care.

  • In an analysis of pediatric outpatient genetics referrals, we observed a significant association between neighborhood resources and clinic attendance but not diagnostic yield for those attending, and a higher diagnostic yield for families with limited English proficiency, suggesting referral bias for more severe phenotypes.

  • Thus, the primary barrier to finding a genetic diagnosis was initiation of care, not the ensuing diagnostic odyssey.

  • Further research efforts should be directed at increasing access to clinical genetics evaluations for children with rare disease.

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Fig. 1: Conceptual model.
Fig. 2: CONSORT-style diagram.

Data availability

To protect patient privacy, the dataset generated and analyzed during the current study may be available from the corresponding author on reasonable request contingent on a data use agreement.

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Acknowledgements

The authors thank the geneticists and genetic counselors that we work with who work tirelessly to provide equitable care in their clinical practice. We also thank Dr. Henry Feldman for statistical support.

Funding

M.H.W. was supported by a Boston Children’s Hospital Medical Staff Organization Faculty Innovated Research Award and the National Institute of Child Health and Human Development K23 HD102589. M.B. was supported by the Harvard Neonatal-Perinatal Medicine Summer Student Research Program. The other authors received no external funding. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Authors

Contributions

M.H.W. designed and conceptualized the study, designed the data collection instrument, collected data, performed the data analysis, drafted the initial manuscript, and reviewed and revised the manuscript. M.B. and M.C.d.R. acquired data and reviewed and revised the manuscript for important intellectual content. A.K. and M.M.O. contributed to the conception and design of the study and critically reviewed and revised the manuscript for important intellectual content. Y.S.F. designed and conceptualized the study and reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Monica H. Wojcik.

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The authors declare no competing interests.

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This study was conducted with a waiver of written informed consent due to the nature of the study design.

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Wojcik, M.H., Bresnahan, M., del Rosario, M.C. et al. Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res (2022). https://doi.org/10.1038/s41390-022-02240-3

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