Racial and ethnic disparities in a real-world precision oncology data registry
Open accessAbstract
Biorepositories enable precision oncology research by sharing clinically annotated genomic data, but it remains unknown whether these data registries reflect the true distribution of cancers in racial and ethnic minorities. Our analysis of Project Genomics Evidence Neoplasia Information Exchange (GENIE), a real-world cancer data registry designed to accelerate precision oncology discovery, indicates that minorities do not have sufficient representation, which may impact the validity of studies directly comparing mutational profiles between racial/ethnic groups and limit generalizability of biomarker discoveries to all populations.
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Diversity of public datasets is a challenge across other oncology applications, including popular genomics datasets such as TCGA and GENIE.
“The diversity of public data sets is a challenge across other oncology applications, including popular genomics data sets, such as TCGA (181) and GENIE (182).”
From Artificial Intelligence in Oncology: Current Landscape, Challenges, and Future Directions (2024) · cites this paper as [182]
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The repertoire of mutational signatures in human cancer
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature · doi:10.1038/s41586-020-1943-3 · Cited by 3,496 · see citing works
AACR Project GENIE: Powering Precision Medicine through an International Consortium
The AACR Project GENIE Consortium, The AACR Project GENIE Consortium, André, F., Arnedos, M., Baras, A. S., Baselga, J., Bedard, P. L., Berger, M. F., Bierkens, M., Calvo, F., et al. (2017) · Cancer Discovery · doi:10.1158/2159-8290.cd-17-0151 · Cited by 1,964 · see citing works
Bustamante, C. D., Vega, F. M. D. L., & Burchard, E. G. (2011) · Nature · doi:10.1038/475163a · Cited by 601 · see citing works
Cancer statistics for African American/Black People 2022
Giaquinto, A. N., Miller, K. D., Tossas, K. Y., Winn, R. A., Jemal, A., & Siegel, R. L. (2022) · CA A Cancer Journal for Clinicians · doi:10.3322/caac.21718 · Cited by 576 · see citing works
The Repertoire of Mutational Signatures in Human CancerPreprint
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Ng, A. W. T., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/322859 · Cited by 529 · see citing works
Racial/ethnic disparities in genomic sequencing
Spratt, D. E., Chan, T., Waldron, L., Speers, C., Feng, F. Y., Ogunwobi, O. O., & Osborne, J. R. (2016) · JAMA Oncology · doi:10.1001/jamaoncol.2016.1854 · Cited by 375 · see citing works
Kraft, S. A., Cho, M. K., Gillespie, K., Halley, M., Varsava, N., Ormond, K. E., Luft, H. S., Wilfond, B. S., & Lee, S. S.-J. (2018) · The American Journal of Bioethics · doi:10.1080/15265161.2018.1431322 · Cited by 271 · see citing works
Getting genetic ancestry right for science and society
Lewis, A. C. F., Molina, S. J., Appelbaum, P. S., Dauda, B., Rienzo, A. D., Fuentes, A., Fullerton, S. M., Garrison, N. A., Ghosh, N., Hammonds, E. M., et al. (2022) · Science · doi:10.1126/science.abm7530 · Cited by 217 · see citing works
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Nassar, A. H., Adib, E., & Kwiatkowski, D. J. (2021) · New England Journal of Medicine · doi:10.1056/nejmc2030638 · Cited by 210 · see citing works
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Expanding research on the racial disparity in medical treatment with ideas from sociology
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Bliss, C. (2013) · Sociology · doi:10.1177/0038038513495604 · Cited by 44 · see citing works
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Young, J. L., & Cho, M. K. (2021) · The American Journal of Bioethics · doi:10.1080/15265161.2020.1870767 · Cited by 29 · see citing works
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Kamran, S. C., Xie, J., Cheung, A. T. M., Mavura, M. Y., Song, H., Palapattu, E. L., Madej, J., Gusev, A., Allen, E. M. V., & Huang, F. W. (2021) · JCO Precision Oncology · doi:10.1200/po.21.00340 · Cited by 28 · see citing works
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Goel, N., Kim, D. Y., Guo, J. A., Zhao, D. Y., Mahal, B. A. V., & Alshalalfa, M. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.0573 · Cited by 27 · see citing works
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Schumacher, F. R., Basourakos, S. P., Lewicki, P., Vince, R., Spratt, D. E., Barbieri, C. E., & Shoag, J. E. (2021) · JCO Precision Oncology · doi:10.1200/po.21.00324 · Cited by 22 · see citing works
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Cohen, J. R. (1977) · Elsevier eBooks · doi:10.1016/b978-0-12-179060-8.50011-6 · Cited by 22 · see citing works
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Cheung, A. T. M. (2018) · The American Journal of Bioethics · doi:10.1080/15265161.2018.1431711 · Cited by 6 · see citing works
Self-citationCohen’s h for detection of disease association with rare genetic variants
Wen, S., & Yeh, J. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-875 · Cited by 5 · see citing works
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- Authors
- Cheung, A. T. M., Palapattu, E. L., Pompa, I. R., Aldrighetti, C. M., Niemierko, A., Willers, H., Huang, F., Vapiwala, N., Van Allen, E., & Kamran, S. C.
- Affiliations
- Broad Institute (US)
- Harvard University (US)
- University of California, San Francisco (US)
- Hospital of the University of Pennsylvania (US)
- Corresponding author
- Kamran, Sophia C.
- ORCID
- Venue
- npj Precision Oncology
- Published
- 2023-01-19
- Volume
- 7
- Issue
- 1
- Pages
- 7-7
- ISSN
- 2397-768X (ISSN-L)
- PMC
- PMC9852424
- OpenAlex
- W4317435826
- Cited by
- 39
- References
- 20
- Citations by year
- 2026: 8 · 2025: 11 · 2024: 16 · 2023: 4
- FWCI
- 4.97
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- npj Precision Oncology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- American Association for Cancer Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- racial and ethnic disparities, precision oncology, GENIE, genomic data, mutational landscape, minority groups, real-world data
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