Resources

Anhorn, Rachel A., Ashcraft, Kristine, et al. “AMCP Partnership Forum: Managing Care in the Wave of Precision Medicine.” Journal of Managed Care & Specialty Pharmacy, vol. 24, no. 7, 2018, pp. 583–. https://doi.org/10.18553/jmcp.2018.24.7.583.

Smir, Moran, Nazareth, Shivani, Ashcraft, Kristine, et al. “Democratizing Genomics: Leveraging Software to Make Genetics an Integral Part of Routine Care.” American Journal of Medical Genetics Part C. https://doi.org/10.1002/ajmg.c.31866.

Grande, Kendra J., Dalton, Rachel, Ashcraft, Kristine C., et al. “Assessment of a Manual Method versus an Automated, Probability-Based Algorithm to Identify Patients at High Risk for Pharmacogenomic Adverse Drug Outcomes in a University-Based Health Insurance Program.” Journal of Personalized Medicine, vol. 12, no. 2, 2022. https://www.mdpi.com/2075-4426/12/2/161.

Wick, Jennifer A., Pierson, E., Ashcraft, Kristine, et al. “Benefit of Pharmacogenomic Testing in a Patient with Refractory Gastroesophageal Reflux Disease: A Case Report.” Annals of Case Reports. https://www.anncaserep.com/open-access/benefit-of-pharmacogenomic-testing-in-a-patient-with-refractory-gastroesophageal-9686.pdf.

Thacker, David L., Savieo, Jessica L., Hachad, Houda. “Bringing Pharmacogenetics to Prescribers.” Academic Pathology, 2020. https://doi.org/10.1016/j.yamp.2020.07.011.

Elliott, Lindsay S., Henderson, John C., Ashcraft, Kristine C., et al. “Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: A prospective pilot randomized controlled trial.” PLOS ONE. https://doi.org/10.1371/journal.pone.0170905.

Kim, Kibum, Magness, Jonathan W., Nelson, Ryan, Baron, Valerie, Brixner, Diana I. “Clinical Utility of Pharmacogenetic Testing and a Clinical Decision Support Tool to Enhance the Identification of Drug Therapy Problems Through Medication Therapy Management in Polypharmacy Patients.” National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10397798/.

Chambal, Mason, Forsthoffer, Casey, Ashcraft, Kristine, et al. “Comparison of targeted vs. expanded pharmacogenomic testing: What are we missing?” Journal of the American Pharmacists Association. https://www.japha.org/article/S1544-3191(23)00062-6/abstract.

Coleman, Howard, Ashcraft, Kristine. “Comprehensive, personalized medication management and pharmacogenetic testing are important existing opportunities to reduce adverse medication events and improve overall healthcare outcomes.” Expert Review of Molecular Diagnostics. https://doi.org/10.2217/14622416.9.4.469.

Hocum, Brian T., White, John R., Ashcraft, Kristine, et al. “Cytochrome P-450 gene and drug interaction analysis in patients referred for pharmacogenetic testing.” PubMed. https://pubmed.ncbi.nlm.nih.gov/26721535/.

Gohar, Azhar, Wei, J. Y., Ashcraft, Kristine, et al. “Differences in Medicare Quality Measures among Nursing Homes after Pharmacogenetic Testing.” Journal of Research and Development. https://www.longdom.org/open-access/differences-in-medicare-quality-measures-among-nursing-homes-afterpharmacogenetic-testing-jrd-1000136.pdf.

Duarte, Julio D., Kansal, Mayank, Riden, Katherine, et al. “Endothelial nitric oxide synthase genotype is associated with pulmonary hypertension severity in left heart failure patients.” Digital Health. https://doi.org/10.1177/2045894018773049.

Wick, Jennifer A., Schmidlen, Tara, Ashcraft, Kristine, et al. “Implementing comprehensive pharmacogenomics in a community hospital–associated primary care setting.” Journal of the American Pharmacists Association. https://www.japha.org/article/S1544-3191(22)00303-X/abstract.

Shriver, Sharon P., Adams, Devon, Ashcraft, Kristine, et al. “Overcoming Barriers to Discovery and Implementation of Equitable Pharmacogenomic Testing in Oncology.” Journal of Clinical Oncology. https://doi.org/10.1200/JCO.23.01748.

Rodriguez-Antona, Cristina, Savieo, Jessica L., et al. “PharmVar GeneFocus: CYP3A5.” Clinical Pharmacology & Therapeutics. https://doi.org/10.1002/cpt.2563.

Zubiaur, Pablo, Rodríguez-Antona, Cristina, Savieo, Jessica, et al. “PharmVar GeneFocus: CYP4F2.” Clinical Pharmacology & Therapeutics. https://doi.org/10.1002/cpt.3405.

Chambal, Mason, Forsthoffer, Casey, Ashcraft, Kristine, et al. “Response to: Koverman MS, Sun C, Berman N, Munro C, Phillips B, Rowe KB, Massart MB and Berenbrok LA. Primary care is what’s missing: A response to a comparison of targeted vs. expanded pharmacogenomic testing.” Journal of the American Pharmacists Association. https://www.japha.org/article/S1544-3191(23)00244-3/abstract.

Brixner, Diana, Biltaji, E., Ashcraft, Kristine, et al. “The effect of pharmacogenetic profiling with a clinical decision support tool on healthcare resource utilization and estimated costs in the elderly exposed to polypharmacy.” Journal of Medical Economics. https://doi.org/10.3111/13696998.2015.1110160.

Ashcraft, Kristine, Moretz, Chad, et al. “Unmanaged Pharmacogenomic and Drug Interaction Risk Associations with Hospital Length of Stay among Medicare Advantage Members with COVID-19: A Retrospective Cohort Study.” Journal of Personalized Medicine, vol. 11, no. 11, 2021. https://www.mdpi.com/2075-4426/11/11/1192.

Ashcraft, Kristine, Grande, Kendra, et al. “Validation of Pharmacogenomic Interaction Probability (PIP) Scores in Predicting Drug–Gene, Drug–Drug–Gene, and Drug–Gene–Gene Interaction Risks in a Large Patient Population.” Journal of Personalized Medicine, vol. 12, no. 12, 2022. https://www.mdpi.com/2075-4426/12/12/1972.

Clinical Pharmacogenetics Implementation Consortium (CPIC)
CPIC’s goal is to address this barrier to clinical implementation of pharmacogenetic tests by creating, curating, and posting freely available, peer-reviewed, evidence-based, updatable, and detailed gene/drug clinical practice guidelines.

Cytochrome p450
Common variations (polymorphisms) in cytochrome P450 genes can affect enzyme function. The effects of polymorphisms are most evident in the metabolism of medications.

FDA Table of Pharmacogenomic Biomarkers in Drug Labeling
The table lists therapeutic products from Drugs@FDA with pharmacogenomic information found in the drug labeling.

Pharmacogene Variation (PharmVar) Consortium
The Pharmacogene Variation (PharmVar) Consortium is a central repository for pharmacogene (PGx) variation, focusing on haplotype structure and allelic variation. The information in this resource facilitates the interpretation of pharmacogenetic test results to guide precision medicine.

PharmGKB
The PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information, including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations, and genotype-phenotype relationships.

WarfarinDosing.org
Welcome to WarfarinDosing.org, a free website to help doctors and other clinicians begin warfarin therapy by estimating the therapeutic dose in patients new to warfarin. Estimates are based on clinical factors and (when available) genotypes of two genes: cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1).

Genetics Home Reference (GHR)
Genetics Home Reference is the National Library of Medicine website for consumer information on genetic conditions and the genes or chromosomes associated with them.

Genetic Testing Registry (GTR)
The Genetic Testing Registry (GTR^®) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test’s purpose, methodology, validity, evidence of the test’s usefulness, and laboratory contacts and credentials.

GeneReviews
GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant, medically actionable information on inherited conditions in a standardized, journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

Nomenclature of HLA Alleles
Early in their study, it was recognized that the genes encoding HLA molecules were highly polymorphic and that a systematic nomenclature was needed. The HLA complex is located within the 6p21.3 region on the short arm of human chromosome 6 and contains more than 220 genes of diverse function. Many of the genes encode the proteins of the immune system.

HUGO Gene Nomenclature Committee (HGNC)
HGNC is responsible for approving unique symbols and names for human loci, including protein-coding genes, ncRNAs, and pseudogenes, to enable unambiguous scientific communication. genenames.org is a curated online repository of HGNC-approved gene nomenclature, gene families, and associated resources, including links to genomic, proteomic, and phenotypic information.

The International Genome Sample Resource (IGSR)
The 1000 Genomes Project ran between 2008 and 2015, creating the largest public catalog of human variation and genotype data.

Online Mendelian Inheritance in Man (OMIM)
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

Drug Development and Drug Interactions
Drug-drug interactions can lead to changes in systemic exposure, resulting in variations in the drug response of the co-administered drugs. In addition to co-administration of other drugs, concomitant ingestion of dietary supplements or citrus fruit or fruit juice could also alter systemic exposure of drugs, thus leading to adverse drug reactions or loss of efficacy. Therefore, it is important to evaluate potential drug interactions both prior to market approval and during the postmarketing period. This website provides drug developers with the FDA’s current understanding of how to conduct drug-interaction studies and resulting labeling.

Drug-Drug Interaction Mechanisms by Hansten and Horn
There are a number of mechanisms by which drugs interact with each other, and most of them can be divided into two general categories: pharmacokinetic and pharmacodynamic interactions. With pharmacokinetic drug interactions, one drug affects the absorption, distribution, metabolism, or excretion of another. When pharmacodynamic drug interactions occur, two drugs have additive or antagonistic pharmacologic effects. Either type of drug interaction can result in adverse effects in some individuals.

Flockhart Table: P450 Drug Interactions Abbreviated “Clinically Relevant” Table
Effective, intelligent management of many problems related to drug interactions in clinical prescribing can be aided by an understanding of drug metabolism. Specifically, if a prescriber is aware of the dominant cytochrome P450 isoform involved in a drug’s metabolism, it is possible to anticipate, from the inhibitor and inducer lists for that enzyme, which drugs might cause significant interactions.