Empowering Precision Medicine: The Role of Personalized Genomics in Advanced Healthcare Systems

Authors

  • Anju Arya
  • Amita Malik

Keywords:

Personalized healthcare, Precision medicine, Genomics medicine, Personalized medicine

Abstract

For years, the medical field has been striving to provide personalized healthcare to patients. The traditional methods in practice are not flexible enough to provide personalized treatment to patients. Before prescribing a medication, the typical tailored method has relied on examining physical symptoms and clinical test results. Yet, the recommended therapy is often based on a "one size fits all" methodology, a solution that works for everyone in the population, despite the fact that every person's body responds to treatment differently in a diseased state. There has been a clear change in recent decades from evidence or proof-based medicine to precision medicine, which focuses on a person's traits. The personalized genomic medicine strives to address the inadequacies of traditional personalized medicine approaches, thereby complementing the precision medicine concept of selecting suitable treatment options and increasing patient response. The motive of personalized genomic medicine is to ensure that a person receives the "Right decision and Right therapy at the Right moment." In this paper, we will provide an outline of personalized genomic medicine and explore its potential in transforming the current health-care system in the near future.

Downloads

Download data is not yet available.

References

S. Morganti et al., “Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life,” Crit. Rev. Oncol. Hematol., vol. 133, pp. 171–182, 2019, doi: 10.1016/j.critrevonc.2018.11.008.

U.S. Food and Drug Administration, “FDA’s Role in a New Era of Medical Product Development,” Paving W. Pers. Med., 2013.

Langreth and Waldholz, “New era of personalized medicine: targeting drugs for each unique genetic profile,” Oncologist, 1999, doi: 10.1634/theoncologist.4-5-426.

K. K. Jain, “Personalized medicine,” 2002. doi: 10.1177/0022034512449171.

N. S. Abul-Husn and E. E. Kenny, “Personalized Medicine and the Power of Electronic Health Records,” Cell, vol. 177, no. 1, pp. 58–69, 2019, doi: 10.1016/j.cell.2019.02.039.

L. Chouchane, R. Mamtani, A. Dallol, and J. I. Sheikh, “Personalized medicine: A patient - centered paradigm,” 2011. doi: 10.1186/1479-5876-9-206.

W. K. Redekop and D. Mladsi, “The Faces of Personalized Medicine: A Framework for Understanding Its Meaning and Scope,” Value Heal., vol. 16, no. 6 SUPPL., p. S4, 2013, doi: 10.1016/j.jval.2013.06.005.

M. E. Klein, M. M. Parvez, and J. G. Shin, “Clinical Implementation of Pharmacogenomics for Personalized Precision Medicine: Barriers and Solutions,” J. Pharm. Sci., vol. 106, no. 9, pp. 2368–2379, 2017, doi: 10.1016/j.xphs.2017.04.051.

M. Hassan et al., “Innovations in Genomics and Big Data Analytics for Personalized Medicine and Health Care: A Review,” 2022. doi: 10.3390/ijms23094645.

P. C. of A. on S. and Technology, “Priorities for Personalized Medicine,” OCLC Digit. Arch., 2008.

L. A. Simmons, M. A. Dinan, T. J. Robinson, and R. Snyderman, “Personalized medicine is more than genomic medicine: confusion over terminology impedes progress towards personalized healthcare,” Per. Med., vol. 9, no. 1, pp. 85–91, 2012, doi: 10.2217/pme.11.86.

S. Mathur and J. Sutton, “Personalized medicine could transform healthcare (Review),” 2017. doi: 10.3892/br.2017.922.

National Cancer Institute, “Definition of personalized medicine,” National Cancer Institute.

M. Di Sanzo et al., “Clinical Applications of Personalized Medicine: A New Paradigm and Challenge,” Curr. Pharm. Biotechnol., 2017, doi: 10.2174/1389201018666170224105600.

Genetics Home Reference, “What is precision medicine? - Genetics Home Reference - NIH,” National Library of Medicine.

K. Divaris, “Fundamentals of Precision Medicine.,” Compend. Contin. Educ. Dent., 2017.

National Institutes of Health (NIH), “Genomic Medicine and Health Care - National Human Genome Research Institute (NHGRI),” Genomic Medicine & Healthcare.

G. S. Ginsburg and H. F. Willard, “Genomic and personalized medicine: foundations and applications,” Transl. Res., vol. 154, no. 6, pp. 277–287, 2009, doi: 10.1016/j.trsl.2009.09.005.

S. Jakka and M. Rossbach, “An economic perspective on personalized medicine,” 2013. doi: 10.1186/1877-6566-7-1.

National Institutes of Health, “What is a gene? - Genetics Home Reference - NIH,” Genetcs Home Reference.

U.S National Library of Medicine, “What is a gene mutation and how do mutations occur? - Genetics Home Reference,” 2019.

S. C. P. Williams, “Genetic mutations you want,” Proc. Natl. Acad. Sci. U. S. A., 2016, doi: 10.1073/pnas.1601663113.

S. Chatterjee and N. Ahituv, “Gene Regulatory Elements, Major Drivers of Human Disease,” Annu. Rev. Genomics Hum. Genet., 2017, doi: 10.1146/annurev-genom-091416-035537.

C. Gene, “Genetics Home Reference - NIH,” Natl. Libr. Med., 2018.

K. Karamperis, S. Wadge, M. Koromina, and G. P. Patrinos, “Genetic testing,” in Applied Genomics and Public Health, 2019. doi: 10.1016/B978-0-12-813695-9.00010-8.

K. Salari, H. Watkins, and E. A. Ashley, “Personalized medicine: Hope or hype?,” Eur. Heart J., vol. 33, no. 13, pp. 1564–1570, 2012, doi: 10.1093/eurheartj/ehs112.

A. E. Guttmacher and F. S. Collins, “Welcome to the Genomic Era,” N. Engl. J. Med., 2003, doi: 10.1056/nejme038132.

J. Marshall, “Human Genome Project,” in Encyclopedia of Applied Ethics, 2012. doi: 10.1016/B978-0-12-373932-2.00391-4.

V. Pascual, D. Chaussabel, and J. Banchereau, “A genomic approach to human autoimmune diseases,” Annu. Rev. Immunol., vol. 28, pp. 535–571, 2010, doi: 10.1146/annurev-immunol-030409-101221.

T. R. Golub et al., “Molecular classification of cancer: Class discovery and class prediction by gene expression monitoring,” Science (80-. )., 1999, doi: 10.1126/science.286.5439.531.

K. E. Caudle et al., “Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing,” 2014. doi: 10.1038/clpt.2014.159.

J. Shendure and H. Ji, “Next-generation DNA sequencing,” 2008. doi: 10.1038/nbt1486.

N. Rose, “Personalized Medicine: Promises, Problems and Perils of a New Paradigm for Healthcare,” Procedia - Soc. Behav. Sci., 2013, doi: 10.1016/j.sbspro.2013.03.092.

J. W. Belmont et al., “The international HapMap project,” Nature, 2003, doi: 10.1038/nature02168.

1000 Genomes Project Consortium et al., “A global reference for human genetic variation,” Nature, 2015.

A. Buniello et al., “The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019,” Nucleic Acids Res., 2019, doi: 10.1093/nar/gky1120.

K. A. Phillips, P. A. Deverka, G. W. Hooker, and M. P. Douglas, “Genetic test availability and spending: Where are we now? Where are we going?,” Health Aff., 2018, doi: 10.1377/hlthaff.2017.1427.

X. Deng and Y. Nakamura, “Cancer Precision Medicine: From Cancer Screening to Drug Selection and Personalized Immunotherapy,” 2017. doi: 10.1016/j.tips.2016.10.013.

A. E. Mohr, C. P. Ortega-Santos, C. M. Whisner, J. Klein-Seetharaman, and P. Jasbi, “Navigating challenges and opportunities in multi-omics integration for personalized healthcare,” Biomedicines, vol. 12, no. 7, p. 1496, 2024.

S. H. Katsanis, G. Javitt, and K. Hudson, “Public health: A case study of personalized medicine,” Science (80-. )., vol. 320, no. 5872, pp. 53–54, 2008, doi: 10.1126/science.1156604.

W. Burke, S. Brown Trinidad, and N. A. Press, “Essential elements of personalized medicine,” Urol. Oncol. Semin. Orig. Investig., 2014, doi: 10.1016/j.urolonc.2013.09.002.

A. A. Agyeman and R. Ofori-Asenso, “Perspective: Does personalized medicine hold the future for medicine?,” J. Pharm. Bioallied Sci., 2015, doi: 10.4103/0975-7406.160040.

L. Hood and M. Flores, “A personal view on systems medicine and the emergence of proactive P4 medicine: Predictive, preventive, personalized and participatory,” N. Biotechnol., vol. 29, no. 6, pp. 613–624, 2012, doi: 10.1016/j.nbt.2012.03.004.

R. Sandroff, “Are you feeling empowered yet?,” 2012. doi: 10.1002/hast.76.

J. V. Cordeiro, “Ethical and legal challenges of personalized medicine: Paradigmatic examples of research, prevention, diagnosis and treatment,” Rev. Port. Saude Publica, vol. 32, no. 2, pp. 164–180, 2014, doi: 10.1016/j.rpsp.2014.10.002.

C. S. Bloss, D. V. Jeste, and N. J. Schork, “Genomics for Disease Treatment and Prevention,” 2011. doi: 10.1016/j.psc.2010.11.005.

D. Kalra, T. Beale, and S. Heard, “The openEHR foundation,” Stud. Health Technol. Inform., 2005.

C. L. Overby and P. Tarczy-Hornoch, “Personalized medicine: Challenges and opportunities for translational bioinformatics,” Per. Med., vol. 10, no. 5, pp. 453–462, 2013, doi: 10.2217/pme.13.30.

N. R. Sperber et al., “Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network,” BMC Med. Genomics, 2017, doi: 10.1186/s12920-017-0273-2.

J. M. Pulley et al., “Operational implementation of prospective genotyping for personalized medicine: The design of the vanderbilt PREDICT project,” Clin. Pharmacol. Ther., 2012, doi: 10.1038/clpt.2011.371.

Precision Medicine Initiative (PMI) Working Group, “The precision medicine initiative cohort program – building a research foundation for 21st century medicine,” Precis. Med. Initiat. Work. Gr. Rep. to Advis. Comm. to Dir. NIH, 2015.

P. L. Sankar and L. S. Parker, “The Precision Medicine Initiative’s All of Us Research Program: An agenda for research on its ethical, legal, and social issues,” 2017. doi: 10.1038/gim.2016.183.

J. W. Smoller et al., “An eMERGE clinical center at partners personalized medicine,” J. Pers. Med., 2016, doi: 10.3390/jpm6010005.

M. V. Relling et al., “New Pharmacogenomics Research Network: An Open Community Catalyzing Research and Translation in Precision Medicine,” 2017. doi: 10.1002/cpt.755.

O. Gottesman et al., “The CLIPMERGE PGx program: Clinical implementation of personalized medicine through electronic health records and genomics-pharmacogenomics,” Clin. Pharmacol. Ther., 2013, doi: 10.1038/clpt.2013.72.

P. H. O’Donnell et al., “The 1200 patients project: Creating a new medical model system for clinical implementation of pharmacogenomics,” Clin. Pharmacol. Ther., 2012, doi: 10.1038/clpt.2012.117.

J. M. Hoffman et al., “PG4KDS: A model for the clinical implementation of pre-emptive pharmacogenetics,” Am. J. Med. Genet. Part C Semin. Med. Genet., 2014, doi: 10.1002/ajmg.c.31391.

H. M. Dunnenberger et al., “Preemptive clinical pharmacogenetics implementation: Current programs in five us medical centers,” 2015. doi: 10.1146/annurev-pharmtox-010814-124835.

D. Horgan, “From here to 2025: Personalised medicine and healthcare for an immediate future,” J. Cancer Policy, vol. 16, pp. 6–21, 2018, doi: 10.1016/j.jcpo.2017.12.008.

E. Ahmed and M. Shabani, “DNA Data Marketplace: An Analysis of the Ethical Concerns Regarding the Participation of the Individuals,” Front. Genet., 2019, doi: 10.3389/fgene.2019.01107.

S. H. Katsanis, G. Javitt, and K. Hudson, “A Case Study of Personalized Medicine,” Science (80-. )., 2008.

W. Sun, J. Lee, S. Zhang, C. Benyshek, M. R. Dokmeci, and A. Khademhosseini, “Engineering Precision Medicine,” 2019. doi: 10.1002/advs.201801039.

W. E. Kraus, “Personalized Lifestyle Medicine,” in Genomic and Precision Medicine: Cardiovascular Disease: Third Edition, 2018. doi: 10.1016/B978-0-12-801812-5.00013-5.

G. H. Fernald, E. Capriotti, R. Daneshjou, K. J. Karczewski, and R. B. Altman, “Bioinformatics challenges for personalized medicine,” 2011. doi: 10.1093/bioinformatics/btr295.

Y. Wu, Y. Ding, Y. Tanaka, and W. Zhang, “Risk factors contributing to type 2 diabetes and recent advances in the treatment and prevention,” 2014. doi: 10.7150/ijms.10001.

G. Sedda, R. Gasparri, and L. Spaggiari, “Challenges and innovations in personalized medicine care,” Futur. Oncol., vol. 15, no. 29, pp. 3305–3308, 2019, doi: 10.2217/fon-2019-0284.

K. A. Phillips, J. Ann Sakowski, J. Trosman, M. P. Douglas, S. Y. Liang, and P. Neumann, “The economic value of personalized medicine tests: What we know and what we need to know,” Genet. Med., vol. 16, no. 3, pp. 251–257, 2014, doi: 10.1038/gim.2013.122.

L. El-Alti, L. Sandman, and C. Munthe, “Person Centered Care and Personalized Medicine: Irreconcilable Opposites or Potential Companions?,” Heal. Care Anal., vol. 27, no. 1, pp. 45–59, 2019, doi: 10.1007/s10728-017-0347-5.

P. B. Ferrell and H. L. McLeod, “Carbamazepine, HLA-B*1502 and risk of Stevens-Johnson syndrome and toxic epidermal necrolysis: US FDA recommendations,” 2008. doi: 10.2217/14622416.9.10.1543.

M. Naveed et al., “Privacy in the genomic era,” ACM Comput. Surv., 2015, doi: 10.1145/2767007.

M. C. Roberts, A. E. Kennedy, D. A. Chambers, and M. J. Khoury, “The current state of implementation science in genomic medicine: Opportunities for improvement,” Genet. Med., vol. 19, no. 8, pp. 858–863, 2017, doi: 10.1038/gim.2016.210.

R. C. Green, H. L. Rehm, and I. S. Kohane, “Clinical Genome Sequencing,” in Genomic and Personalized Medicine, 2013. doi: 10.1016/B978-0-12-382227-7.00009-4.

T. A. Manolio et al., “Implementing genomic medicine in the clinic: The future is here,” Genet. Med., vol. 15, no. 4, pp. 258–267, 2013, doi: 10.1038/gim.2012.157.

B. S. A. Leachman, D. G. MacArthur, M. Angrist, S. W. Gray, A. R. Bradbury, and D. B. Vorhaus, “Direct-to-Consumer Genetic Testing: Personalized Medicine in Evolution,” Asco, 2011.

T. Elliott and M. C. Yopes, “Direct-to-Consumer Telemedicine,” J. Allergy Clin. Immunol. Pract., 2019, doi: 10.1016/j.jaip.2019.06.027.

D. E. Gerber, “Targeted therapies: A new generation of cancer treatments,” 2008.

M. B. Myers, “Targeted therapies with companion diagnostics in the management of breast cancer: Current perspectives,” 2016. doi: 10.2147/PGPM.S56055.

P. Borgiani et al., “CYP4F2 genetic variant (rs2108622) significantly contributes to warfarin dosing variability in the Italian population,” Pharmacogenomics, 2009, doi: 10.2217/14622416.10.2.261.

S. Ahmed, Z. Zhou, J. Zhou, and S. Q. Chen, “Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine,” 2016. doi: 10.1016/j.gpb.2016.03.008.

“Precision or Personalized Medicine,” https://www.cancer.org/treatment/treatments-and-side-effects/treatment-types/precision-medicine.html, 2020.

F. Treatments and A. Reactions, “Advancing Personalized / Precision Medicine,” no. June, pp. 1–4, 2015.

K. Gorshkov et al., “Advancing precision medicine with personalized drug screening,” Drug Discov. Today, vol. 24, no. 1, pp. 272–278, 2019, doi: 10.1016/j.drudis.2018.08.010.

D. Ho et al., “Enabling Technologies for Personalized and Precision Medicine,” 2020. doi: 10.1016/j.tibtech.2019.12.021.

E. A. Ashley, “Towards precision medicine,” 2016. doi: 10.1038/nrg.2016.86.

C. Méndez-Vidal et al., “A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice,” J. Transl. Med., vol. 23, no. 1, p. 86, 2025.

K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clin. Transl. Sci., 2020, doi: 10.1111/cts.12884.

S. Daley, “32 EXAMPLES OF AI IN HEALTHCARE THAT WILL MAKE YOU FEEL BETTER ABOUT THE FUTURE,” https://builtin.com/artificial-intelligence/artificial-intelligence-healthcare, 2020.

Y. Okuno, “AI technology for precision medicine: current status and future perspectives,” Ann. Oncol., 2018, doi: 10.1093/annonc/mdy344.001.

T. H. Davenport, T. M. Hongsermeier, and K. A. Mc Cord, “Using AI to Improve Electronic Health Records,” Harv. Bus. Rev., 2018.

J. Biamonte, P. Wittek, N. Pancotti, P. Rebentrost, N. Wiebe, and S. Lloyd, “Quantum machine learning,” 2017. doi: 10.1038/nature23474.

Natalie Tkachenko, “MACHINE LEARNING IN HEALTHCARE: 12 REAL-WORLD USE CASES TO KNOW,” https://nix-united.com/blog/machine-learning-in-healthcare-12-real-world-use-cases-to-know/#:~:text=One%20of%20the%20uses%20of,decision%2Dmaking%20and%20patient%20care, 2021.

P. S. Reel, S. Reel, E. Pearson, E. Trucco, and E. Jefferson, “Using machine learning approaches for multi-omics data analysis: A review,” 2021. doi: 10.1016/j.biotechadv.2021.107739.

E. Badidi, “Edge AI for Early Detection of Chronic Diseases and the Spread of Infectious Diseases: Opportunities, Challenges, and Future Directions,” 2023. doi: 10.3390/fi15110370.

A. O’Driscoll, J. Daugelaite, and R. D. Sleator, “‘Big data’, Hadoop and cloud computing in genomics,” 2013. doi: 10.1016/j.jbi.2013.07.001.

X. Yang, K. Huang, D. Yang, W. Zhao, and X. Zhou, “Biomedical Big Data Technologies, Applications, and Challenges for Precision Medicine: A Review,” 2024. doi: 10.1002/gch2.202300163.

E. S. Dove et al., “Genomic cloud computing: Legal and ethical points to consider,” Eur. J. Hum. Genet., 2015, doi: 10.1038/ejhg.2014.196.

H. Rehan, “AI-Powered Genomic Analysis in the Cloud: Enhancing Precision Medicine and Ensuring Data Security in Biomedical Research,” J. Deep Learn. Genomic Data Anal., vol. 3, no. 1, pp. 37–71, 2023.

T. Heydler, “5 Ways Technology Is Changing Personalized Medicine,” https://www.bio-itworld.com/news/2013/10/18/5-ways-technology-is-changing-personalized-medicine, 2013.

A. K. Manrai and I. S. Kohane, Bioinformatics and Precision Medicine. Elsevier Inc., 2017. doi: 10.1016/B978-0-12-809523-2.00011-X.

D. R. Seshadri et al., “Wearable sensors for monitoring the physiological and biochemical profile of the athlete,” npj Digit. Med., 2019, doi: 10.1038/s41746-019-0150-9.

A. A. Seyhan and C. Carini, “Are innovation and new technologies in precision medicine paving a new era in patients centric care?,” 2019. doi: 10.1186/s12967-019-1864-9.

W. Gao, G. A. Brooks, and D. C. Klonoff, “Wearable physiological systems and technologies for metabolic monitoring,” 2018. doi: 10.1152/japplphysiol.00407.2017.

J. Kaur, B. Rahat, S. Thakur, and J. Kaur, “Trends in Precision Medicine,” in Progress and Challenges in Precision Medicine, 2017. doi: 10.1016/B978-0-12-809411-2.00015-5.

K. K. Jain, “Innovative Diagnostic Technologies and Their Significance for Personalized Medicine,” Mol. Diagn. Ther., 2010, doi: 10.1007/bf03256366.

T. McGhin, K. K. R. Choo, C. Z. Liu, and D. He, “Blockchain in healthcare applications: Research challenges and opportunities,” 2019. doi: 10.1016/j.jnca.2019.02.027.

G. S. Ginsburg and K. A. Phillips, “Precision medicine: From science to value,” Health Aff., 2018, doi: 10.1377/hlthaff.2017.1624.

A. Vallée, “Envisioning the future of personalized medicine: Role and realities of digital twins,” J. Med. Internet Res., vol. 26, p. e50204, 2024.

S. Dharani and R. Kamaraj, “A Review of the Regulatory Challenges of Personalized Medicine,” Cureus, vol. 16, no. 8, 2024.

Z. Chen et al., “Harnessing the power of clinical decision support systems: challenges and opportunities,” Open Hear., vol. 10, no. 2, p. e002432, 2023.

K. Nałkecz-Charkiewicz, K. Charkiewicz, and R. M. Nowak, “Quantum computing in bioinformatics: a systematic review mapping,” Brief. Bioinform., vol. 25, no. 5, p. bbae391, 2024.

J. C. L. Chow, “Quantum Computing in Medicine,” Med. Sci., vol. 12, no. 4, p. 67, 2024.

H. L. Rehm, “Evolving health care through personal genomics,” 2017. doi: 10.1038/nrg.2016.162.

K. A. Calzone, J. Jenkins, N. Nicol, H. Skirton, W. G. Feero, and E. D. Green, “Relevance of Genomics to Healthcare and Nursing Practice,” 2013. doi: 10.1111/j.1547-5069.2012.01464.x.

F. C. Udegbe, O. R. Ebulue, C. C. Ebulue, and C. S. Ekesiobi, “Precision Medicine and Genomics: A comprehensive review of IT-enabled approaches,” Int. Med. Sci. Res. J., vol. 4, no. 4, pp. 509–520, 2024.

Downloads

Published

2025-06-11

How to Cite

1.
Arya A, Malik A. Empowering Precision Medicine: The Role of Personalized Genomics in Advanced Healthcare Systems. J Neonatal Surg [Internet]. 2025Jun.11 [cited 2025Sep.19];14(31S):784-801. Available from: https://www.jneonatalsurg.com/index.php/jns/article/view/7270