Genomic Answers for Kids: Toward More Equitable Access to Genomic Testing for Rare Diseases in Rural Populations
Open accessAbstract
Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses. While clinical exome and genome sequencing represent an effective tool for many RD diagnoses, there is room to further improve the diagnostic odyssey of many RD patients. One recognizable intervention lies in increasing equitable access to genomic testing. Rural communities represent a significant portion of underserved and underrepresented individuals facing additional barriers to diagnosis and treatment. Primary care providers (PCPs) at local clinics, though sometimes suspicious of a potential benefit of genetic testing for their patients, have significant constraints in pursuing it themselves and rely on referrals to specialists. Yet, these referrals are typically followed by long waitlists and significant delays in clinical assessment, insurance clearance, testing, and initiation of diagnosis-informed care management. Not only is this process time intensive, but it also often requires multiple visits to urban medical centers for which distance may be a significant barrier to rural families. Therefore, providing early, "direct-to-provider" (DTP) local access to unrestrictive genomic testing is likely to help speed up diagnostic times and access to care for RD patients in rural communities. In a pilot study with a PCP clinic in rural Kansas, we observed a minimum 5.5 months shortening of time to diagnosis through the DTP exome sequencing program as compared to rural patients receiving genetic testing through the "traditional" PCP-referral-to-specialist scheme. We share our experience to encourage future partnerships beyond our center. Our efforts represent just one step in fostering greater diversity and equity in genomic studies.
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Lack of nearby facilities can lead to longer delays compared with patients in urban areas, especially when facing rare diseases requiring specialized medical treatment and diagnosis.
“This lack of nearby facilities can lead to longer delays compared with patients in urban areas, especially when facing rare diseases requiring specialized medical treatment and diagnosis [44].”
From Toward Safer Diagnoses: A SEIPS-Based Narrative Review of Diagnostic Errors (2026) · cites this paper as [44]
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- Authors
- Cohen, A. S. A., Berrios, C. D., Zion, T. N., Barrett, C. M., Moore, R., Boillat, E., Belden, B., Farrow, E. G., Thiffault, I., Zuccarelli, B. D., & Pastinen, T.
- Affiliations
- Children's Mercy Hospital (US)
- University of Kansas (US)
- Corresponding author
- Cohen, Ana S.A.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2024-05
- Volume
- 111
- Issue
- 5
- Pages
- 825-832
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC11080604
- OpenAlex
- W4394893766
- Cited by
- 21
- References
- 24
- Citations by year
- 2026: 9 · 2025: 8 · 2024: 4
- FWCI
- 5.57
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Children's Mercy
- National Center for Advancing Translational Sciences (UL1TR002366)
- National Institutes of Health (11120514, 00002314)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- rare diseases, rural health, health equity, exome sequencing, diagnostic odyssey, primary care providers, referral barriers, time to diagnosis, underserved populations
- MeSH terms
- Child, Female, Genetic Testing, Health Services Accessibility, Humans, Male, Rural Population, Genomics, Rare Diseases, High-Throughput Nucleotide Sequencing
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