Precision Medicine and Genomics-Driven Care Ecosystems
DOI:
https://doi.org/10.64261/dq6c8187Keywords:
With 97.1% accuracy in identifying patient phenotypic cohorts from medical records, Natural Language Processing (NLP) algorithms have completely changed the analysis of clinical data. By applying sophisticated computational phenotyping techniques to unstructured clinical notes, this ground-breaking system extracts insightful information from patient histories, physician narratives, and clinical observations. Multiple clinical parameters and their interactions can be analyzed simultaneously thanks to multi-task learning techniques, which have shown better performance than conventional rule-based systems [5]. The capacity to comprehend and process natural language has created new opportunities for extracting useful data from decades' worth of medical knowledge. Convolutional neural network-powered computer vision systems have revolutionized the study of medical imaging. The average analysis time is reduced from 15 minutes to less than 2 minutes per case thanks to these advanced systems' exceptional speed and accuracy in processing complicated medical images. AI models have demonstrated 96.8% sensitivity and 95.5% specificity in ultrasound analysis,Abstract
Traditional medical models have largely relied on population averages to guide clinical decisions. While these approaches have achieved important successes, they often fail to account for why individuals with the same diagnosis respond differently to the same treatment. Precision medicine addresses this limitation by integrating genomic and molecular information with clinical data, allowing clinicians to better understand disease mechanisms and select interventions that are more likely to be effective for each patient (Ashley, 2016).
References
Armstrong, G. L., MacCannell, D. R., Taylor, J., Carleton, H. A., Neuhaus, E. B., Bradbury, R. S., & Posey, J. E. (2019). Pathogen genomics in public health. New England Journal of Medicine, 381(26), 2569–2580. https://doi.org/10.1056/NEJMra1811937 DOI: https://doi.org/10.1056/NEJMsr1813907
Arnett, D. K., Blumenthal, R. S., Albert, M. A., Buroker, A. B., Goldberger, Z. D., Hahn, E. J., Himmelfarb, C. D., Khera, A., Lloyd-Jones, D., McEvoy, J. W., Michos, E. D., Miedema, M. D., Munoz, D., Smith, S. C., Jr., Virani, S. S., Williams, K. A., Sr., Yeboah, J., & Ziaeian, B. (2019). 2019 ACC/AHA guideline on the primary prevention of cardiovascular disease. Circulation, 140(11), e596–e646. https://doi.org/10.1161/CIR.0000000000000678 DOI: https://doi.org/10.1161/CIR.0000000000000678
Ashley, E. A. (2016). Towards precision medicine. Nature Reviews Genetics, 17(9), 507–522. https://doi.org/10.1038/nrg.2016.86 DOI: https://doi.org/10.1038/nrg.2016.86
Boycott, K. M., Hartley, T., Adam, S., Bernier, F. P., Chong, K., Fernandez, B. A., Friedman, J. M., Geraghty, M. T., Hume, S., Knoppers, B. M., Laberge, A. M., Majewski, J., Mendoza-Londono, R., Meyn, M. S., Michaud, J. L., Nelson, T. N., Richer, J., Sadikovic, B., Skidmore, D. L., … Dyment, D. A. (2019). The clinical application of genome-wide sequencing for monogenic diseases in Canada. Journal of Medical Genetics, 56(6), 371–378. https://doi.org/10.1136/jmedgenet-2018-105616
Bunnik, E. M., Janssens, A. C. J. W., & Schermer, M. H. N. (2013). Informed consent in direct-to-consumer personal genome testing: The outline of a model between specific and generic consent. Bioethics, 28(7), 343–351. https://doi.org/10.1111/bioe.12023 DOI: https://doi.org/10.1111/bioe.12004
Collins, F. S., & Varmus, H. (2015). A new initiative on precision medicine. New England Journal of Medicine, 372(9), 793–795. https://doi.org/10.1056/NEJMp1500523 DOI: https://doi.org/10.1056/NEJMp1500523
Dienstmann, R., Rodon, J., Barretina, J., & Tabernero, J. (2017). Genomic medicine frontier in human solid tumors: Prospects and challenges. Journal of Clinical Oncology, 31(15), 1874–1884. https://doi.org/10.1200/JCO.2012.46.8932 DOI: https://doi.org/10.1200/JCO.2012.45.2268
Doudna, J. A., & Charpentier, E. (2014). Genome editing with CRISPR-Cas9. Science, 346(6213), 1258096. https://doi.org/10.1126/science.1258096 DOI: https://doi.org/10.1126/science.1258096
Elwyn, G., Frosch, D., Thomson, R., Joseph-Williams, N., Lloyd, A., Kinnersley, P., Cording, E., Tomson, D., Dodd, C., Rollnick, S., Edwards, A., & Barry, M. (2012). Shared decision making: A model for clinical practice. Journal of General Internal Medicine, 27(10), 1361–1367. https://doi.org/10.1007/s11606-012-2077-6 DOI: https://doi.org/10.1007/s11606-012-2077-6
Feil, R., & Fraga, M. F. (2012). Epigenetics and the environment: Emerging patterns and implications. Nature Reviews Genetics, 13(2), 97–109. https://doi.org/10.1038/nrg3142 DOI: https://doi.org/10.1038/nrg3142
Friedman, C. P., Wong, A. K., & Blumenthal, D. (2017). Achieving a nationwide learning health system. Science Translational Medicine, 2(57), 57cm29. https://doi.org/10.1126/scitranslmed.3001456 DOI: https://doi.org/10.1126/scitranslmed.3001456
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., Rehm, H. L., Watson, M. S., Williams, M. S., & Biesecker, L. G. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574. https://doi.org/10.1038/gim.2013.73 DOI: https://doi.org/10.1038/gim.2013.73
Hasin, Y., Seldin, M., & Lusis, A. (2017). Multi-omics approaches to disease. Genome Biology, 18(1), 83. https://doi.org/10.1186/s13059-017-1215-1 DOI: https://doi.org/10.1186/s13059-017-1215-1
Hunter, D. J. (2005). Gene–environment interactions in human diseases. Nature Reviews Genetics, 6(4), 287–298. https://doi.org/10.1038/nrg1578 DOI: https://doi.org/10.1038/nrg1578
Husereau, D., Drummond, M., Petrou, S., Carswell, C., Moher, D., Greenberg, D., Augustovski, F., Briggs, A. H., Mauskopf, J., & Loder, E. (2020). Consolidated Health Economic Evaluation Reporting Standards 2022. BMJ, 346, f1049. https://doi.org/10.1136/bmj.f1049 DOI: https://doi.org/10.1136/bmj.f1049
International Human Genome Sequencing Consortium. (2004). Finishing the euchromatic sequence of the human genome. Nature, 431(7011), 931–945. https://doi.org/10.1038/nature03001 DOI: https://doi.org/10.1038/nature03001
Joly, Y., Feze, I. N., & Simard, J. (2013). Genetic discrimination and life insurance: A systematic review of the evidence. BMC Medicine, 11, 25. https://doi.org/10.1186/1741-7015-11-25 DOI: https://doi.org/10.1186/1741-7015-11-25
Kaphingst, K. A., Blanchard, M., Milam, L., Pokharel, M., Elrick, A., & Goodman, M. S. (2016). Relationships between health literacy and genomics-related knowledge, self-efficacy, and behaviors. Public Health Genomics, 19(4), 212–220. https://doi.org/10.1159/000447997 DOI: https://doi.org/10.1159/000447997
Kaye, J., Whitley, E. A., Lund, D., Morrison, M., Teare, H., & Melham, K. (2015). Dynamic consent: A patient interface for twenty-first century research networks. European Journal of Human Genetics, 23(2), 141–146. https://doi.org/10.1038/ejhg.2014.71 DOI: https://doi.org/10.1038/ejhg.2014.71
Khoury, M. J., Galea, S., & Buffler, P. A. (2016). Precision medicine: Where are we now and where are we going? American Journal of Preventive Medicine, 50(3), 324–328. https://doi.org/10.1016/j.amepre.2015.10.001 DOI: https://doi.org/10.1016/j.amepre.2015.10.001
Knoppers, B. M., & Thorogood, A. M. (2017). Ethics and big data in health. Current Opinion in Systems Biology, 4, 53–57. https://doi.org/10.1016/j.coisb.2017.07.002 DOI: https://doi.org/10.1016/j.coisb.2017.07.001
Kullo, I. J., Jarvik, G. P., Manolio, T. A., Williams, M. S., & Roden, D. M. (2016). Leveraging the electronic health record to implement genomic medicine. Genetics in Medicine, 15(4), 270–271. https://doi.org/10.1038/gim.2012.190 DOI: https://doi.org/10.1038/gim.2012.131
Manolio, T. A., Abramowicz, M., Al-Mulla, F., Anderson, W., Balling, R., Berger, A. C., Bleyl, S., Chakravarti, A., Chantratita, W., Chisholm, R. L., Cook-Deegan, R., Delaney, S., Devoto, M., El-Serag, H. B., Evans, J. P., Goldstein, D. B., Genomic Medicine Working Group. (2019). Global implementation of genomic medicine: We are not alone. Science Translational Medicine, 7(290), 290ps13. https://doi.org/10.1126/scitranslmed.aab0192 DOI: https://doi.org/10.1126/scitranslmed.aab0194
Mardis, E. R. (2017). DNA sequencing technologies: 2006–2016. Nature Protocols, 12(2), 213–218. https://doi.org/10.1038/nprot.2016.182 DOI: https://doi.org/10.1038/nprot.2016.182
Middleton, A., Milne, R., Howard, H. C., Niemiec, E., Robarts, L., Critchley, C., Norton, M., Morley, K. I., & Parker, M. (2017). Attitudes of publics who are unwilling to donate DNA for research. European Journal of Medical Genetics, 60(10), 491–497. https://doi.org/10.1016/j.ejmg.2017.07.005 DOI: https://doi.org/10.1016/j.ejmg.2017.07.005
Phillips, K. A. (2018). Closing the evidence gap in the use of emerging testing technologies in clinical practice. JAMA, 320(20), 2131–2132. https://doi.org/10.1001/jama.2018.17085
Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013). Somatic mutation, genomic variation, and neurological disease. Science, 341(6141), 1237758. https://doi.org/10.1126/science.1237758 DOI: https://doi.org/10.1126/science.1237758
Rehm, H. L., Bale, S. J., Bayrak-Toydemir, P., Berg, J. S., Brown, K. K., Deignan, J. L., Friez, M. J., Funke, B. H., Hegde, M. R., Lyon, E., Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. (2015). ACMG clinical laboratory standards for next-generation sequencing. Genetics in Medicine, 15(9), 733–747. https://doi.org/10.1038/gim.2013.92 DOI: https://doi.org/10.1038/gim.2013.92
Relling, M. V., & Evans, W. E. (2015). Pharmacogenomics in the clinic. Nature, 526(7573), 343–350. https://doi.org/10.1038/nature15817 DOI: https://doi.org/10.1038/nature15817
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., & Rehm, H. L. (2015). Standards and guidelines for the interpretation of sequence variants. Genetics in Medicine, 17(5), 405–424. https://doi.org/10.1038/gim.2015.30 DOI: https://doi.org/10.1038/gim.2015.30
Roden, D. M., McLeod, H. L., Relling, M. V., Williams, M. S., Mensah, G. A., Peterson, J. F., & Van Driest, S. L. (2019). Pharmacogenomics. The Lancet, 394(10197), 521–532. https://doi.org/10.1016/S0140-6736(19)31276-0 DOI: https://doi.org/10.1016/S0140-6736(19)31276-0
Shabani, M., & Marelli, L. (2019). Re-identifiability of genomic data and the GDPR. EMBO Reports, 20(6), e48316. https://doi.org/10.15252/embr.201948316 DOI: https://doi.org/10.15252/embr.201948316
Shabani, M., Thorogood, A., & Borry, P. (2020). Who should have access to genomic data and how should they be held accountable? European Journal of Human Genetics, 28(4), 535–542. https://doi.org/10.1038/s41431-019-0550-z
Sirugo, G., Williams, S. M., & Tishkoff, S. A. (2019). The missing diversity in human genetic studies. Cell, 177(1), 26–31. https://doi.org/10.1016/j.cell.2019.02.048 DOI: https://doi.org/10.1016/j.cell.2019.02.048
Stark, Z., Dolman, L., Manolio, T. A., Ozenberger, B., Hill, S. L., Caulfied, M. J., Levy, Y., Glazer, D., Wilson, J., Lawler, M., Boughtwood, T., Braithwaite, J., & Gaff, C. (2019). Integrating genomics into healthcare: A global responsibility. American Journal of Human Genetics, 104(1), 13–20. https://doi.org/10.1016/j.ajhg.2018.11.014 DOI: https://doi.org/10.1016/j.ajhg.2018.11.014
Strachan, T., & Read, A. (2018). Human molecular genetics (4th ed.). Garland Science. DOI: https://doi.org/10.4324/9780203833544
Topol, E. J. (2019). Deep medicine: How artificial intelligence can make healthcare human again. Basic Books.
World Health Organization. (2022). Genomics and world health: Report of the Advisory Committee on Health Research. WHO Press.
Downloads
Published
Issue
Section
Categories
License
Copyright (c) 2026 Pan-African Journal of Health and Psychological Sciences

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
All articles published in the Pan-African Journal of Health and Psychological Sciences (PAJHPS) are open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0).
Under this license:
-
Authors retain copyright and grant the journal the right of first publication.
-
The work may be shared, copied, redistributed, and adapted for any purpose, even commercially.
-
Appropriate credit must be given to the original author(s) and the journal, along with a link to the license.
-
Users must indicate if changes were made.
-
There are no restrictions on reuse, provided the original work is properly cited.
Citation:
Authors and users must cite the original work in the following manner:
Author(s). (Year). Title of the article. Pan-African Journal of Health and Psychological Sciences, Volume(Issue), page range. https://doi.org/xx.xxxx/pajhps.vXnY.xxx
Copyright Statement:
Authors grant PAJHPS a non-exclusive license to publish the work and identify itself as the original publisher. Authors may enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version (e.g., post it to a repository or publish it in a book), with acknowledgment of its initial publication in this journal.