Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects
Open accessAbstract
Response to a drug often differs widely among individual patients. This variability is frequently observed not only with respect to effective responses but also with adverse drug reactions. Matching patients to the drugs that are most likely to be effective and least likely to cause harm is the goal of effective therapeutics. Pharmacogenomics (PGx) holds the promise of precision medicine through elucidating the genetic determinants responsible for pharmacological outcomes and using them to guide drug selection and dosing. Here we survey the US landscape of research programs in PGx implementation, review current advances and clinical applications of PGx, summarize the obstacles that have hindered PGx implementation, and identify the critical knowledge gaps and possible studies needed to help to address them.
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Pharmacogenetics roll-out has been hampered by factors including lack of clinical decision support in electronic medical systems.
“For example, despite multiple examples of clinically important genetic markers related to drug efficacy and side-effect profile145, the roll-out of pharmacogenetics has been hampered by a range of factors, including lack of clinical decision support in electronic medical systems to guide the drug choice or dosing by the physician.”
From A brief history of human disease genetics (2020) · cites this paper as [145]
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Research works printed but not linked: 2
- [31]UF University of Florida, Precision Medicine Conference < http://precisionmed.pharmacy.ufl.edu/> 2017 Accessed 11/9/2017
- [34]NCBI GTR: Genetic Testing Registry < https://www.ncbi.nlm.nih.gov/gtr/all/?term=pharmacogenetic%5Bkeyword%5D> 2017 Accessed 9/12/2017
Cited by
Sorted by citations
A brief history of human disease genetics
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Self-citation
- Authors
- Volpi, S., Bult, C. J., Chisholm, R. L., Deverka, P. A., Ginsburg, G. S., Jacob, H. J., Kasapi, M., McLeod, H. L., Roden, D. M., Williams, M. S., Green, E. D., Rodriguez, L. L., Aronson, S., Cavallari, L. H., Denny, J. C., Dressler, L. G., Johnson, J. A., Klein, T. E., Leeder, J. S., Piquette‐Miller, M., Perera, M., Rasmussen‐Torvik, L. J., Rehm, H. L., Ritchie, M. D., Skaar, T. C., Wagle, N., Weinshilboum, R., Weitzel, K. W., Wildin, R., Wilson, J., Manolio, T. A., & Relling, M. V.
- Affiliations
- National Institutes of Health (US)
- Jackson Laboratory (US)
- Northwestern University (US)
- American Institutes for Research (US)
- Duke University (US)
- HudsonAlpha Institute for Biotechnology (US)
- Moffitt Cancer Center (US)
- Vanderbilt University Medical Center (US)
- Geisinger Health System (US)
- Partners Healthcare Cambridge Massachusetts USA
- University of Florida (US)
- Vanderbilt University (US)
- Mission Health (US)
- Stanford University (US)
- Children's Mercy Hospital (US)
- University of Toronto (CA)
- Brigham and Women's Hospital (US)
- University of Pennsylvania (US)
- Indiana University Indianapolis (US)
- Dana-Farber Cancer Institute (US)
- Mayo Clinic (US)
- University of Florida Health (US)
- University of Vermont Medical Center (US)
- Optum (United States) (US)
- St. Jude Children's Research Hospital (US)
- Corresponding author
- Volpi, Simona
- ORCID
- Volpi, Simona
- Bult, Carol J.
- Chisholm, Rex L.
- Deverka, Patricia A.
- Ginsburg, Geoffrey S.
- Jacob, Howard J.
- Kasapi, Melpomeni
- McLeod, Howard L.
- Roden, Dan M.
- Williams, Marc S.
- Green, Eric D.
- Rodriguez, Laura Lyman
- Aronson, Samuel
- Cavallari, Larisa H.
- Denny, Joshua C.
- Johnson, Julie A.
- Klein, Teri E.
- Leeder, J. Steven
- Piquette‐Miller, Micheline
- Perera, Minoli
- Rasmussen‐Torvik, Laura J.
- Rehm, Heidi L.
- Ritchie, Marylyn D.
- Skaar, Todd C.
- Wagle, Nikhil
- Weinshilboum, Richard
- Wildin, Robert
- Wilson, John
- Manolio, Teri A.
- Relling, Mary V.
- Venue
- Clinical Pharmacology & Therapeutics
- Publisher
- Wiley
- Published
- 2018-03-30
- Volume
- 103
- Issue
- 5
- Pages
- 778-786
- ISSN
- 0009-9236 (ISSN-L)
- 1532-6535
- PMC
- PMC5902434
- OpenAlex
- W2793349513
- Cited by
- 135
- References
- 35
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 9 · 2023: 15 · 2022: 27 · 2021: 22 · 2020: 19 · 2019: 22 · 2018: 10
- FWCI
- 3.54
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Clinical Pharmacology & Therapeutics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- National Human Genome Research Institute (NIH U01HG007282)
- Topics
- Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
- Keywords
- pharmacogenomics, clinical implementation, precision medicine, adverse drug reactions, drug response variability, drug selection, dosage, research programs, knowledge gaps, implementation barriers
- MeSH terms
- Humans, Pharmacogenetics, Research, United States, Precision Medicine
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