Resources

The team at YouScript has curated a list of research backed resources on pharmacogenetics, genetics, and drug interactions

Biomarker Testing Coverage

Learn more about mandatory insurance coverage for PGx biomarker testing in your state.

PGxperts™ Scientific Publications

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.genelex.com/files/wp-content/uploads/2018/09/genelex_differences-in-medicare-quality-measures.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.

Government Sites

dbSNP
dbSNP contains human single-nucleotide variants, microsatellites, and small-scale insertions and deletions, along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variants and clinical mutations.

U.S. Food & Drug Administration – Drug Interactions & Labeling
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 guidance on conducting drug-interaction studies and the resulting labeling.

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

National Human Genome Research Institute (NHGRI)
The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, funds and conducts genomics research spanning basic science, disease mechanisms, and clinical application. It led the International Human Genome Project and now maintains a large library of educational resources on genomics and genomic medicine, including pharmacogenomics.

Table of Pharmacogenetic Associations
The FDA table identifies pharmacogenetic associations where genetic variants may affect drug metabolism, therapeutic response, or the risk of adverse events. It provides information to help prescribers consider genetic factors alongside other clinical factors when making treatment decisions.

Pharmacogenomics

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.

ClinPGx
ClinPGx is a comprehensive clinical pharmacogenomic (PGx) resource created to support and expand PGx knowledge, implementation and education. It integrates the PharmGKB, CPIC and PharmCAT projects, with additional features and content. Their goals are to make clinical PGx accessible and facilitate its integration with genomic medicine.

The Dutch Pharmacogenetics Working Group (DPWG)
The Dutch Pharmacogenetics Working Group (DPWG) was established in 2005 by the Royal Dutch Pharmacist’s Association (KNMP) and brings together experts across clinical pharmacy, medicine, pharmacology, and related fields. The DPWG develops pharmacogenetics-based treatment and dosing recommendations and helps integrate them into prescribing and medication surveillance systems to support clinicians and pharmacists.

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.

Genetics

AMP Clinical Practice Guidelines and Reports
The AMP Clinical Practice Guidelines and Reports provide guidance and recommendations to laboratory and healthcare professionals on specific areas of practice. They support clinical decision-making but are not intended to establish a standard of care or dictate treatment for individual patients, which should be based on professional judgment and patient circumstances.

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.

gnomAD
The Genome Aggregation Database (gnomAD™) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.

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.

MedlinePlus Genetics
MedlinePlus Genetics is the National Library of Medicine website for consumer information on genetic conditions and the genes or chromosomes associated with them.

Drug Interactions

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.