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Underrepresentation of blind and deaf participants in the All of Us Research Program

Nature Medicine volume 29, pages 2742–2747 (2023)Cite this article

Subjects

Abstract

Blind and deaf individuals comprise large populations that often experience health disparities, with those from marginalized gender, racial, ethnic and low-socioeconomic communities commonly experiencing compounded health inequities. Including these populations in precision medicine research is critical for scientific benefits to accrue to them. We assessed representation of blind and deaf people in the All of Us Research Program (AoURP) 2018–2023 cohort of participants who provided electronic health records and compared it with the Centers for Disease Control and Prevention 2018 national estimates by key demographic characteristics and intersections thereof. Blind and deaf AoURP participants are considerably underrepresented in the cohort, especially among working-age adults (younger than age 65 years), as well as Asian and multi-racial participants. Analyses show compounded underrepresentation at the intersection of multiple marginalization (that is, racial or ethnic minoritized group, female sex, low education and low income), most substantively for working-age blind participants identifying as Black or African American female with education levels lower than high school (representing one-fifth of their national prevalence). Underrepresentation raises concerns about the generalizability of findings in studies that use these data and limited benefits for the already underserved blind and deaf populations.

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Fig. 1: Prevalence gaps at three-level intersectionality for deaf participants.

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Data availability

In line with the privacy standards set by the AoURP, data used for this study are available to approved researchers who register for access to the Researcher Workbench platform at https://workbench.researchallofus.org/login. This analysis was run on the AoURP Registered Tier Dataset version 6 production release R2022Q2R6. The CDC-NHIS data used for national representation are included in the code repository below and at https://www.cdc.gov/nchs/nhis/nhis_2018_data_release.htm.

Code availability

The code written by study investigators is available in a GitHub repository at https://github.com/gitclv/blind_deaf_representation_AoURP_EHR.

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Acknowledgements

This work was supported by National Human Genome Research Institute (NHGRI)/National Institutes of Health (NIH) Office of the Director (OD) grant R01HG010868 (M.S.) and Columbia University’s Precision Medicine: Ethics, Politics & Culture (M.S. and C.L.). We also thank T. Sun for brainstorming on the figures. Data for this manuscript were obtained through the All of Us Research Program’s Registered Tier Dataset version 6 production. The All of Us Research Program is supported by the NIH OD: Regional Medical Centers: 1 OT2 OD026549; 1 OT2 OD026554; 1 OT2 OD026557; 1 OT2 OD026556; 1 OT2 OD026550; 1 OT2 OD 026552; 1 OT2 OD026553; 1 OT2 OD026548; 1 OT2 OD026551; 1 OT2 OD026555; IAA: AOD 16037; Federally Qualified Health Centers: HHSN 263201600085U; Data and Research Center: 5 U2C OD023196; Biobank: 1 U24 OD023121; Participant Center: U24 OD023176; Participant Technology Systems Center: 1 U24 OD023163; Communications and Engagement: 3 OT2 OD023205; 3 OT2 OD023206; and Community Partners: 1 OT2 OD025277; 3 OT2 OD025315; 1 OT2 OD025337; 1 OT2 OD025276. In addition, we would like to acknowledge the contribution of the All of Us Research Program’s research participants. The All of Us Research Program would not be possible without the partnership of its participants. The funders had no role in the design and conduct of the study; the collection, management, analysis and interpretation of the data; the preparation, review or approval of the manuscript; and the decision to submit the manuscript for publication. The content of this work is solely that of the authors and does not necessarily represent the official views of the NIH. We are grateful for insights from Howard Rosenblum, of the National Association of the Deaf, and Lou Ann Blake, of the National Federation of the Blind.

Author information

Authors and Affiliations

  1. Mailman School of Public Health, Columbia University, New York, NY, USA

    Colby Lewis V

  2. Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA

    Jack Huebner

  3. Department of Biomedical Informatics, Columbia University, New York, NY, USA

    George Hripcsak

  4. Center for Precision Medicine and Genomics, Department of Medicine, Columbia University, New York, NY, USA

    Maya Sabatello

  5. Division of Ethics, Department of Medical Humanities & Ethics, Columbia University, New York, NY, USA

    Maya Sabatello

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Contributions

Concept and design: M.S., C.L. and G.H. Acquisition, analysis or interpretation of data: C.L., J.H. and M.S. Drafting of the manuscript: C.L. and M.S. Critical revision of the manuscript for important intellectual content: C.L., J.H., G.H. and M.S. Statistical analysis: C.L. Funding acquisition: M.S. Supervision: M.S.

Corresponding author

Correspondence to Maya Sabatello.

Ethics declarations

Competing interests

M.S. is a member of the institutional review board of the National Institutes of Health All of Us Research Program. The authors declare no other conflicts of interest.

Peer review

Peer review information

Nature Medicine thanks Isabelle Boisvert and the other, anonymous, reviewer(s) for their contribution to the peer review of this work. Primary Handling Editor: Jennifer Sargent, in collaboration with the Nature Medicine team.

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Extended data

Extended Data Fig. 1 Cohort description.

Breakdown of full study population (AoURP EHR volunteers) into blind and deaf cohorts. See Supplemental Table 2 for the full list of SNOMED standard concept names and codes that determine cohort membership when found in participant EHR.

Extended Data Fig. 2 Prevalence gaps of blind participants at the intersection of sex, education, and household income (working-age, ≤65 years).

Prevalence comparison between AoURP and national estimates for blind participants in each intersectional group (top); Distances from parity by intersectional group (bottom).

Extended Data Fig. 3 Prevalence gaps of deaf participants at the intersection of sex, education, and household income (working-age, ≤65 years).

Prevalence comparison between AoURP and national estimates for deaf participants in each intersectional group (top); Distances from parity by intersectional group (bottom).

Extended Data Fig. 4 Prevalence gaps of blind participants at the intersection of sex, education, and race/ethnicity (working-age, ≤65 years).

Prevalence comparison between AoURP and national estimates for blind participants in each intersectional group (top); Distances from parity by intersectional group (bottom).

Extended Data Fig. 5 Prevalence gaps of deaf participants at the intersection of sex, education, and race/ethnicity (working-age, ≤65 years).

Prevalence comparison between AoURP and national estimates for deaf participants in each intersectional group (top); Distances from parity by intersectional group (bottom).

Extended Data Fig. 6 Prevalence gaps of deaf participants (working-age, ≤65 years) by intersectional race/ethnicity, sex, and education categories.

Prevalence gaps at three-level intersectionality for deaf participants: 1) race or ethnicity alone (top); 2) race or ethnicity and sex (middle); and 3) race or ethnicity, sex and education (bottom).

Supplementary information

Reporting Summary

Supplementary Table 1

aAll Hispanic-identifying participants were grouped as ‘Hispanic’ (without listing race), with the other ethnic group comprising only non-Hispanic participants. The AoURP does not currently provide data about American Indian and Alaska Native participants. b‘Poor’ families are defined as those with incomes below the 2018 federal poverty threshold. ‘Near poor’ families have household incomes of 100% to less than 200% of the poverty threshold. ‘Not poor’ families have household incomes over 200% of the threshold. Thresholds are calculated using incomes ranging from $12,140 to $55,340 depending on household size.

Supplementary Table 2

Cohort and SNOMED standard concept name. (*) indicates bilateral.

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Lewis V, C., Huebner, J., Hripcsak, G. et al. Underrepresentation of blind and deaf participants in the All of Us Research Program. Nat Med 29, 2742–2747 (2023). https://doi.org/10.1038/s41591-023-02607-x

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