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Cited by 25Genomics and Rare DiseasesEthics in Clinical ResearchRace, Genetics, and Society

Advancing Understanding of Inequities in Rare Disease Genomics

Open access
Serrano, Jillian G., O'Leary, Melanie, VanNoy, Grace E., Mangilog, Brian E., Holm, Ingrid A., Fraiman, Yarden S., Rehm, Heidi L., O'Donnell-Luria, Anne +1 more·2023·Clinical Therapeutics
DOI 10.1016/j.clinthera.2023.06.010PMC PMC10527807

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Abstract

Purpose Advances in genomic research have facilitated rare disease diagnosis for thousands of individuals. Unfortunately, the benefits of advanced genetic diagnostic technology are not distributed equitably among the population, as has been seen in many other health care contexts. Quantifying and describing inequities in genetic diagnostic yield is inherently challenging due to barriers to both clinical and research genetic testing. We therefore present an implementation protocol developed to expand access to our rare disease genomic research study and to further understand existing inequities.Methods and findings The Rare Genomes Project (RGP) at the Broad Institute of MIT and Harvard offers research genome sequencing to individuals with rare disease who remain genetically undiagnosed through direct interaction with the individual or family. This presents an opportunity for diagnosis beyond the clinical context, thus eliminating many barriers to access. An initial goal of RGP was to equalize access to genomic sequencing by decoupling testing access from proximity to a major medical center and physician referral. However, study participants over the initial 3 years of this project were predominantly white and well resourced. To further understand and address the lack of diversity within RGP, we developed a novel protocol embedded within the larger RGP study, in an approach informed by an implementation science framework. The aims of this protocol were: (1) to diversify recruitment and enrollment within RGP; (2) understand the process and context of implementing genomic medicine for rare disease diagnosis; and (3) investigate the value of a diagnosis for underserved populations.Implications Improved understanding of existing inequities and potential strategies to address them are needed to advance equity in rare disease genetic diagnosis and research. In addition to the moral imperative of equity in genomic medicine, this approach is critical in order to fully understand the genomic underpinnings of rare disease.

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  • Timely diagnosis of rare diseases has always been challenged by a lack of high-quality medical resources in many regions of the world.

    “Timely diagnosis of rare diseases has always been challenged by a lack of high-quality medical resources in many regions of the world”

    From Enhancing diagnostic capability with multi-agents conversational large language models (2025) · cites this paper as [8]

    The Introduction (page unavailable) says limited access to health care can prevent genetic evaluation and may lengthen time to diagnosis. The Abstract (page unavailable) also identifies proximity to a major medical center as an access barrier. The paper does not establish that a lack of high-quality medical resources has always impeded timely rare-disease diagnosis across many regions of the world. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

  • Delays in diagnosis lead to delays in treatment and poor prognosis.

    “delays in diagnosis lead to delays in treatment and poor prognosis7,8.”

    From Enhancing diagnostic capability with multi-agents conversational large language models (2025) · cites this paper as [8]

    The Introduction (page not available in our copy) says barriers to genetic evaluation may result in a longer time to diagnosis. The paper does not say that diagnostic delays cause treatment delays or poor prognosis; its survey lists “better treatment” as a potential benefit of diagnosis, not an observed consequence of delay. (LLM, conf=0.81)

    Experimental — accuracy not yet measured

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Authors
Serrano, J. G., O'Leary, M., VanNoy, G. E., Mangilog, B. E., Holm, I. A., Fraiman, Y. S., Rehm, H. L., O'Donnell-Luria, A., & Wojcik, M. H.
Affiliations
  • Broad Institute (US)
  • Boston Children's Hospital (US)
Corresponding author
Wojcik, Monica H.
ORCID
Venue
Clinical Therapeutics
Publisher
Elsevier BV
Published
2023-08
Volume
45
Issue
8
Pages
745-753
ISSN
0149-2918 (ISSN-L)
DOI
10.1016/j.clinthera.2023.06.010
PMC
PMC10527807
OpenAlex
W4385336967
Cited by
25
References
37
Citations by year
2026: 4 · 2025: 11 · 2024: 8 · 2023: 2
FWCI
4.31
Type
journal article
Language
en
Open access
Licence
Locations
  • Clinical Therapeutics (acceptedVersion)
  • medRxiv (acceptedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • PubMed Central (submittedVersion)
Funders
  • Silicon Valley Community Foundation
  • Chan Zuckerberg Initiative (2020-224274)
  • National Institutes of Health
  • National Human Genome Research Institute (R21HG012397, U01HG011755)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
Keywords
rare diseases, genomic medicine, health equity, genetic diagnosis, underserved populations, implementation science, genome sequencing

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