Genomic and personalized medicine: foundations and applications
Abstract
The last decade has witnessed a steady embrace of genomic and personalized medicine by senior government officials, industry leadership, health care providers, and the public. Genomic medicine, which is the use of information from genomes and their derivatives (RNA, proteins, and metabolites) to guide medical decision making-is a key component of personalized medicine, which is a rapidly advancing field of health care that is informed by each person's unique clinical, genetic, genomic, and environmental information. As medicine begins to embrace genomic tools that enable more precise prediction and treatment disease, which include "whole genome" interrogation of sequence variation, transcription, proteins, and metabolites, the fundamentals of genomic and personalized medicine will require the development, standardization, and integration of several important tools into health systems and clinical workflows. These tools include health risk assessment, family health history, and clinical decision support for complex risk and predictive information. Together with genomic information, these tools will enable a paradigm shift to a comprehensive approach that will identify individual risks and guide clinical management and decision making, all of which form the basis for a more informed and effective approach to patient care. DNA-based risk assessment for common complex disease, molecular signatures for cancer diagnosis and prognosis, and genome-guided therapy and dose selection are just among the few important examples for which genome information has already enabled personalized health care along the continuum from health to disease. In addition, information from individual genomes, which is a fast-moving area of technological development, is spawning a social and information revolution among consumers that will undoubtedly affect health care decision making. Although these and other scientific findings are making their way from the genome to the clinic, the full application of genomic and personalized medicine in health care will require dramatic changes in regulatory and reimbursement policies as well as legislative protections for privacy for system-wide adoption. Thus, there are challenges from both a scientific and a policy perspective to personalized health care; however, they will be confronted and solved with the certainty that the science behind genomic medicine is sound and the practice of medicine that it informs is evidence based.
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2 retracted
Genomic signatures to guide the use of chemotherapeutics
Potti, A., Dressman, H. K., Bild, A., Riedel, R. F., Chan, G., Sayer, R. A., Cragun, J. M., Cottrill, H. M., Kelley, M. J., Petersen, R. P., et al. (2006) · Nature Medicine · doi:10.1038/nm1491 · Cited by 595 · see citing works
Self-citationRetractedRETRACTED: A Genomic Strategy to Refine Prognosis in Early-Stage Non–Small-Cell Lung Cancer
Potti, A., Mukherjee, S., Petersen, R. P., Dressman, H. K., Bild, A., Koontz, J. I., Kratzke, R. A., Watson, M. A., Kelley, M. J., Ginsburg, G. S., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa060467 · Cited by 576 · see citing works
Self-citationRetractedThe quality of health care delivered to adults in the United States
McGlynn, E. A., Asch, S. M., Adams, J., Keesey, J., Hicks, J., DeCristofaro, A., & Kerr, E. A. (2003) · New England Journal of Medicine · doi:10.1056/nejmsa022615 · Cited by 5,079 · see citing works
Kawamoto, K., Houlihan, C. A., Balas, E. A., & Lobach, D. F. (2005) · BMJ · doi:10.1136/bmj.38398.500764.8f · Cited by 2,703 · see citing works
Paik, S., Tang, G., Shak, S., Kim, C., Baker, J. B., Kim, W., Cronin, M. T., Baehner, F. L., Watson, D., Bryant, J., et al. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.04.7985 · Cited by 2,576 · see citing works
KANNEL, W. B., DAWBER, T. R., KAGAN, A., REVOTSKIE, N., & STOKES, J. (1961) · Annals of Internal Medicine · doi:10.7326/0003-4819-55-1-33 · Cited by 1,837 · see citing works
Managing Clinical Knowledge for Health Care Improvement
Balas, E. A., & Boren, S. A. (2000) · Yearbook of Medical Informatics · doi:10.1055/s-0038-1637943 · Cited by 1,479 · see citing works
Attention-deficit/hyperactivity disorder: a selective overview.
Biederman, J. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2004.10.020 · Cited by 1,439 · see citing works
Molecular Diagnosis of Burkitt's Lymphoma
Davé, S. S., Fu, K., Wright, G. W., Lam, L. T., Kluin, P. M., Boerma, E.-J. G., Greiner, T. C., Weisenburger, D. D., Rosenwald, A., Ott, G., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa055759 · Cited by 897 · see citing works
A HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889 · see citing works
Bentley, D. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.10.009 · Cited by 805 · see citing works
A roadmap for national action on clinical decision support
Osheroff, J. A., Teich, J. M., Middleton, B., Steen, E. B., Wright, A., & Detmer, D. E. (2007) · Journal of the American Medical Informatics Association · doi:10.1197/jamia.m2334 · Cited by 707 · see citing works
Teutsch, S. M., Bradley, L., Palomaki, G. E., Haddow, J. E., Piper, M., Calonge, N., Dotson, W. D., Douglas, M. P., & Berg, A. O. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e318184137c · Cited by 684 · see citing works
Deng, M. C.-H. K., Eisen, H. J., Mehra, M. R., Billingham, M. E., Marboe, C. C., Berry, G. J., KOBASHIGAWA, J. A., Johnson, F. L., Starling, R. C., Murali, S., et al. (2005) · American Journal of Transplantation · doi:10.1111/j.1600-6143.2005.01175.x · Cited by 525 · see citing works
Personalized medicine: revolutionizing drug discovery and patient care
Ginsburg, G. S. (2001) · Trends in biotechnology · doi:10.1016/s0167-7799(01)01814-5 · Cited by 457 · see citing works
Self-citationMultiparameter Immune Profiling of Operational Tolerance in Liver Transplantation
Martínez‐Llordella, M., Puig-Pey, I., Orlando, G., Ramoni, M. F., Tisone, G., Rimola, A., Lerut, J. P., Latinne, D., Margarit, C., Bilbao, I., et al. (2007) · American Journal of Transplantation · doi:10.1111/j.1600-6143.2006.01621.x · Cited by 375 · see citing works
Letting the Genome out of the Bottle — Will We Get Our Wish?
Hunter, D. J., Khoury, M. J., & Drazen, J. M. (2008) · New England Journal of Medicine · doi:10.1056/nejmp0708162 · Cited by 358 · see citing works
Reconsidering the family history in primary care
Rich, E. C., Burke, W., Heaton, C. J., Haga, S., Pinsky, L., Short, M. P., & Acheson, L. (2004) · Journal of General Internal Medicine · doi:10.1111/j.1525-1497.2004.30401.x · Cited by 347 · see citing works
Targeted Therapies for Cancer 2004
Ross, J. S., Schenkein, D. P., Pietrusko, R. G., Rolfe, M., Linette, G. P., Stec, J. J., Stagliano, N. E., Ginsburg, G. S., Symmans, W. F., Pusztai, L., et al. (2004) · American Journal of Clinical Pathology · doi:10.1309/5cwpu41afr1vym3f · Cited by 286 · see citing works
Self-citationJanssens, A. C. J. W., GWINN, M. L., Bradley, L., Oostra, B. A., van Duijn, C. M., & Khoury, M. J. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.020 · Cited by 278 · see citing works
Service, R. F. (2006) · Science · doi:10.1126/science.311.5767.1544 · Cited by 269 · see citing works
Family History and Prevalence of Diabetes in the U.S. Population
Valdez, R. A., Yoon, P. W., Liu, T., & Khoury, M. J. (2007) · Diabetes Care · doi:10.2337/dc07-0720 · Cited by 206 · see citing works
Molecular Diagnosis of the Hematologic Cancers
Staudt, L. M. (2003) · New England Journal of Medicine · doi:10.1056/nejmra020067 · Cited by 201 · see citing works
Genetic-based dosing in orthopedic patients beginning warfarin therapy
Millican, E. A., Lenzini, P. A., Milligan, P. E., Grosso, L., Eby, C., Deych, E., Grice, G. R., Clohisy, J. C. F., Barrack, R. L., Burnett, R. S. J., et al. (2007) · Blood · doi:10.1182/blood-2007-01-069609 · Cited by 176 · see citing works
Embracing the complexity of genomic data for personalized medicinePreprint
West, M., Ginsburg, G. S., Huang, A. T., & Nevins, J. R. (2006) · Genome Research · doi:10.1101/gr.3851306 · Cited by 155 · see citing works
Self-citationGenomic and Personalized Medicine
(2009) · Elsevier eBooks · doi:10.1016/b978-0-12-369420-1.x0001-7 · Cited by 151 · see citing works
New Era of Personalized Medicine
Langreth, R., & Waldholz, M. (1999) · The Oncologist · doi:10.1634/theoncologist.4-5-426 · Cited by 127 · see citing works
Valdez, R., Yoon, P. W., Liu, T., & Khoury, M. J. (2007) · Diabetes · doi:10.2337/db07-0720x · Cited by 121 · see citing works
Frueh, F. W., & Gurwitz, D. (2004) · Pharmacogenomics · doi:10.1517/14622416.5.5.571 · Cited by 118 · see citing works
Gene Expression Profiling in Acute Myeloid Leukemia
Bullinger, L., & Valk, P. J. M. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.05.020 · Cited by 115 · see citing works
Molecular Testing in the Management of Cardiac Transplant Recipients: Initial Clinical Experience
Starling, R. C., Pham, M., Valantine, H. A., et al. (2006) · The Journal of Heart and Lung Transplantation · doi:10.1016/j.healun.2006.10.002 · Cited by 106 · see citing works
Feero, W. G., Bigley, M. B., Brinner, K. M., & Community, T. F. H. H. M.-S. W. O. T. A. H. I. (2008) · Journal of the American Medical Informatics Association · doi:10.1197/jamia.m2793 · Cited by 105 · see citing works
The Pharmacogenetics of Coumarin Therapy
Voora, D., McLeod, H. L., Eby, C., et al. (2005) · Pharmacogenomics · doi:10.2217/14622416.6.5.503 · Cited by 98 · see citing works
Schwartz, G. F., Hughes, K. S., Lynch, H. T., et al. (2008) · Cancer · doi:10.1002/cncr.23903 · Cited by 93 · see citing works
Decision tools in health care: focus on the problem, not the solution
Liu, J. K., Wyatt, J. C., & Altman, D. G. (2006) · BMC Medical Informatics and Decision Making · doi:10.1186/1472-6947-6-4 · Cited by 90 · see citing works
Applications of AmpliChip??? CYP450
Jain, K. K. (2005) · Molecular Diagnosis · doi:10.2165/00066982-200509030-00002 · Cited by 88 · see citing works
The drug diagnostic co-development concept paper
Hinman, L. M., Sm, H., Hackett, J., Koch, W. H., Love, P. Y., Pennello, G. A., Torres‐Cabassa, A., & Webster, C. (2006) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500392 · Cited by 88 · see citing works
Prospects for Personalized Cardiovascular Medicine
Ginsburg, G. S., Donahue, M., & Newby, L. K. (2005) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2005.06.075 · Cited by 72 · see citing works
Self-citationGenomic medicine: genetic variation and its impact on the future of health care
Willard, H. F., Angrist, M. H., & Ginsburg, G. S. (2005) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2005.1683 · Cited by 72 · see citing works
Self-citationExpanding the definition of a positive family history for early-onset coronary heart disease
Scheuner, M. T., Whitworth, W. C., McGruder, H. F., et al. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000232582.91028.03 · Cited by 62 · see citing works
Hariri, S., Yoon, P. W., Moonesinghe, R., Valdez, R. A., & Khoury, M. J. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000250205.73963.f3 · Cited by 60 · see citing works
The Economic Implications of Noninvasive Molecular Testing for Cardiac Allograft Rejection
Evans, R. W., Williams, G. E., Baron, H. M., et al. (2005) · American Journal of Transplantation · doi:10.1111/j.1600-6143.2005.00869.x · Cited by 59 · see citing works
Familial Risks for Cancer as the Basis for Evidence-Based Clinical Referral and Counseling
Hemminki, K., Sundquist, J., & Bermejo, J. L. (2008) · The Oncologist · doi:10.1634/theoncologist.2007-0242 · Cited by 47 · see citing works
Genomics and personalized medicine.
Meadows, M. (2006) · PubMed · Cited by 45 · see citing works
Wolinsky, H. (2007) · EMBO Reports · doi:10.1038/sj.embor.7401070 · Cited by 42 · see citing works
Ibrahim, M. S. (2009) · OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information) · Cited by 36 · see citing works
Gail, M. H., & Greene, M. H. (2000) · The Lancet · doi:10.1016/s0140-6736(05)74761-9 · Cited by 33 · see citing works
Baker, J. B. (2007) · Pharmacogenomics · doi:10.2217/14622416.8.4.397 · Cited by 26 · see citing works
Lobach, D. F., Kawamoto, K., Anstrom, K. J., et al. (2007) · PubMed · Cited by 25 · see citing works
A change in the market—investing in diagnostics
Batchelder, K. F., & Miller, P. S. (2006) · Nature Biotechnology · doi:10.1038/nbt0806-922 · Cited by 24 · see citing works
New clinical trials policy at FDA
Vastag, B. (2006) · Nature Biotechnology · doi:10.1038/nbt0906-1043 · Cited by 17 · see citing works
Willard, H. F. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-369420-1.00001-9 · Cited by 17 · see citing works
Self-citationMolecular biology of ovarian cancer
Kacinski, B. M., & Chambers, S. K. (1991) · Current Opinion in Oncology · doi:10.1097/00001622-199110000-00014 · Cited by 12 · see citing works
Clinical Genomic Testing: Getting It Right
Douglas, P. S., & Ginsburg, G. S. (2008) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-007-9004-y · Cited by 8 · see citing works
Self-citationDriscoll, C. J., Cashion, A. K., Hathaway, D., et al. (2006) · Transplantation Proceedings · doi:10.1016/j.transproceed.2006.10.116 · Cited by 8 · see citing works
Sequencers step up to the speed challenge
(2006) · Nature · doi:10.1038/443258a · Cited by 8 · see citing works
The Role of Genomics in Enabling Prospective Health Care
Snyderman, R. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374934-5.00017-9 · Cited by 6 · see citing works
Breast Cancer and Genomic Medicine
Huang, E. S., & Huang, A. T. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-369420-1.00072-x · Cited by 4 · see citing works
Chafetz, M. E. (2003) · New England Journal of Medicine · doi:10.1056/nejm200306193482527 · Cited by 3 · see citing works
Woelfel, J. A. (2005) · Scholarly Commons (University of the Pacific) · Cited by 3 · see citing works
Molecular Diagnosis of the Hematologic Cancers
(2003) · New England Journal of Medicine · doi:10.1056/nejm200306193482529 · Cited by 3 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Overview of the BioBank Japan Project: Study design and profile
Nagai, A., Hirata, M., Kamatani, Y., Muto, K., Matsuda, K., Kiyohara, Y., Ninomiya, T., Tamakoshi, A., Yamagata, Z., Mushiroda, T., et al. (2017) · Journal of Epidemiology · doi:10.1016/j.je.2016.12.005 · Cited by 739 · see citing works
The n-of-1 clinical trial: the ultimate strategy for individualizing medicine?
Lillie, E. O., Patay, B., Diamant, J., Issell, B., Topol, E. J., & Schork, N. J. (2011) · Personalized Medicine · doi:10.2217/pme.11.7 · Cited by 706 · see citing works
Coping styles and behavioural flexibility: towards underlying mechanisms
Coppens, C. M., de Boer, S. F., & Koolhaas, J. M. (2010) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2010.0217 · Cited by 610 · see citing works
Innovations in Genomics and Big Data Analytics for Personalized Medicine and Health Care: A Review
Hassan, M., Awan, F. M., Naz, A., deAndrés-Galiana, E. J., Alvarez, O., Cernea, A., Fernández-Brillet, L., Fernández-Martínez, J. L., & Kloczkowski, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23094645 · Cited by 317 · see citing works
“Personalized medicine is a practice of medicine that uses an individual’s genetic profile to guide decisions made regarding the prevention, diagnosis, and treatment of disease [3].”
BackgroundChapman, B. P., Roberts, B., & Duberstein, P. (2011) · Journal of Aging Research · doi:10.4061/2011/759170 · Cited by 283 · see citing works
“Based on these forecasts, an individual may receive closer monitoring for early signs and symptoms of some disease(s), receive a particular preventive treatment that has benefited others like him or her, and/or have existing treatment adapted to fit better with his or her characteristics [229].”
BackgroundCellular events and biomarkers of wound healing
Yussof, S. J. M., Omar, E., Pai, D. R., & Sood, S. (2012) · Indian Journal of Plastic Surgery · doi:10.4103/0970-0358.101282 · Cited by 218 · see citing works
Toward exercise as personalized medicine.
Buford, T. W., Roberts, M. D., & Church, T. S. (2013) · Sports Medicine · doi:10.1007/s40279-013-0018-0 · Cited by 158 · see citing works
Schneider, R. L., Arch, J. J., & Wolitzky-Taylor, K. B. (2015) · Clinical Psychology Review · doi:10.1016/j.cpr.2015.02.004 · Cited by 135 · see citing works
Health Big Data Analytics: A Technology Survey
Harerimana, G., Jang, B., Kim, J. W., & Park, H. K. (2018) · IEEE Access · doi:10.1109/access.2018.2878254 · Cited by 119 · see citing works
Openness and conscientiousness predict 34-SSweek patterns of Interleukin-6 in older persons
Chapman, B. P., van Wijngaarden, E., Seplaki, C. L., Talbot, N., Duberstein, P., & Moynihan, J. (2011) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2011.01.003 · Cited by 59 · see citing works
Williams, J. R., Yeh, V. M., Bruce, M. A., Szetela, C., Ukoli, F., Wilkins, C. H., & Kripalani, S. (2019) · Journal of Genetic Counseling · doi:10.1007/s10897-018-0291-z · Cited by 58 · see citing works
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Balestrini, S., Chiarello, D., Gogou, M., Silvennoinen, K., Puvirajasinghe, C., Jones, W. D., Reif, P., Klein, K. M., Rosenow, F., Weber, Y. G., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2020-325932 · Cited by 49 · see citing works
Niles, A. N., Wolitzky-Taylor, K. B., Arch, J. J., & Craske, M. G. (2017) · Behaviour Research and Therapy · doi:10.1016/j.brat.2017.01.001 · Cited by 26 · see citing works
Making preventive medicine more personalized. Implications for exercise-related research.
Buford, T. W., & Pahor, M. (2012) · Preventive Medicine · doi:10.1016/j.ypmed.2012.05.001 · Cited by 28 · see citing works
- Authors
- Ginsburg, G. S., & Willard, H. F.
- Affiliations
- Duke University (US)
- Corresponding author
- Ginsburg, Geoffrey S.
- Venue
- Translational Research
- Publisher
- Elsevier BV
- Published
- 2009-12
- Volume
- 154
- Issue
- 6
- Pages
- 277-287
- ISSN
- 1878-1810 (ISSN-L)
- 1931-5244
- OpenAlex
- W2030966511
- Cited by
- 637
- References
- 62
- Citations by year
- 2026: 26 · 2025: 47 · 2024: 44 · 2023: 43 · 2022: 23 · 2021: 25 · 2020: 27 · 2019: 28 · 2018: 40 · 2017: 41 · 2016: 28 · 2015: 42 · 2014: 31 · 2013: 57 · 2012: 49
- FWCI
- 4.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Translational research (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
- Keywords
- genomic medicine, personalized medicine, clinical decision support, health risk assessment, family health history, pharmacogenomics, health information privacy
- MeSH terms
- Genetic Testing, Humans, Pharmacogenetics, Genome, Human, Risk Assessment, Decision Support Systems, Clinical, Precision Medicine
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