The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
Precision Medicine: From Science To Value
Open accessAbstract
Precision medicine is making an impact on patients, health care delivery systems, and research participants in ways that were only imagined fifteen years ago when the human genome was first sequenced. Discovery of disease-causing and drug-response genetic variants has accelerated, while adoption into clinical medicine has lagged. We define precision medicine and the stakeholder community required to enable its integration into research and health care. We explore the intersection of data science, analytics, and precision medicine in the formation of health systems that carry out research in the context of clinical care and that optimize the tools and information used to deliver improved patient outcomes. We provide examples of real-world impact and conclude with a policy and economic agenda necessary for the adoption of this new paradigm of health care both in the United States and globally.
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Cites
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ClinVar: public archive of interpretations of clinically relevant variants
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ClinGen — The Clinical Genome Resource
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Precision Medicine — Personalized, Problematic, and Promising
Jameson, J. L., & Longo, D. L. (2015) · New England Journal of Medicine · doi:10.1056/nejmsb1503104 · Cited by 1,106
Carrier testing for severe childhood recessive diseases by next-generation sequencing
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“Genetic screening can be used prior to conception to predict the risk of passing on genetic disorders to offspring (15, 16).”
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Saunders, C. J., Miller, N. A., Soden, S. E., Dinwiddie, D. L., Noll, A., Alnadi, N. A., Andraws, N., Patterson, M. L., Krivohlavek, L. A., Fellis, J., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004041 · Cited by 656
Precision Public Health for the Era of Precision Medicine
Khoury, M. J., Iademarco, M. F., & Riley, W. T. (2016) · American Journal of Preventive Medicine · doi:10.1016/j.amepre.2015.08.031 · Cited by 569
Building the foundation for genomics in precision medicine
Aronson, S. J., & Rehm, H. L. (2015) · Nature · doi:10.1038/nature15816 · Cited by 492
Noninvasive Whole-Genome Sequencing of a Human Fetus
Kitzman, J. O., Snyder, M. W., Ventura, M., Lewis, A. P., Qiu, R., Simmons, L. E., Gammill, H. S., Rubens, C. E., Santillan, D. A., Murray, J. C., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004323 · Cited by 411
Individualized Medicine from Prewomb to Tomb
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Cited by
Implementation science: What is it and why should I care?
Bauer, M. S., & Kirchner, J. (2020) · Psychiatry Research · doi:10.1016/j.psychres.2019.04.025 · Cited by 1,167
Sex and gender differences and biases in artificial intelligence for biomedicine and healthcare
Cirillo, D., Catuara-Solarz, S., Morey, C., Guney, E., Subirats, L., Mellino, S., Gigante, A., Valencia, A., Rementeria, M. J., Chadha, A. S., et al. (2020) · npj Digital Medicine · doi:10.1038/s41746-020-0288-5 · Cited by 553
Data Integration Challenges for Machine Learning in Precision Medicine
Martínez-García, M., & Hernández-Lemus, E. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2021.784455 · Cited by 185
The integration of AI in nursing: addressing current applications, challenges, and future directions
Wei, Q., Pan, S., Liu, X., Hong, M., Nong, C., & Zhang, W. (2025) · Frontiers in Medicine · doi:10.3389/fmed.2025.1545420 · Cited by 143
The Future of Precision Medicine in the Cure of Alzheimer’s Disease
Arafah, A., Khatoon, S., Rasool, I., Khan, A., Rather, M. A., Abujabal, K. A., Faqih, Y. A. H., Rashid, H., Rashid, S. M., Bilal Ahmad, S., et al. (2023) · Biomedicines · doi:10.3390/biomedicines11020335 · Cited by 133
Metadata
- Authors
- Ginsburg, G. S., & Phillips, K. A.
- Venue
- Health Affairs
- Publisher
- Health Affairs Publishing, LLC
- Published
- 2018-05
- Volume
- 37
- Issue
- 5
- Pages
- 694-701
- ISSN
- 0278-2715 (ISSN-L)
- 1544-5208
- OpenAlex
- W2801264239
- Cited by
- 759
- References
- 41
- FWCI
- 11.03
- Type
- journal article
- Language
- en
- Open access
- green
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
