Resources
The clincial pharmacy department at YouScript has curated a list of pharmacogenetic, genetics, and drug interaction resources of credible, researched-backed resources.
Download the YouScript Biomarker Legislation Flyer
Pharmacogenetics
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 the function of the enzymes. The effects of polymorphisms are most prominently seen in the breakdown of medications.
FDA Table of Pharmacogenomic Biomarkers in Drug Labeling
This table below 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 that focuses 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 Web site 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
Genetics Home Reference (GHR)
Genetics Home Reference is the National Library of Medicine website for consumer information about genetic conditions and the genes or chromosomes associated with those conditions.
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 and medically actionable information for 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 the HLA molecules were highly polymorphic and that there was a need for a systematic nomenclature. 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, ncRNA genes and pseudogenes, to allow 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 catalogue 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 Interactions
Drug Development and Drug Interactions
Drug-drug interactions can lead to changed systemic exposure, resulting in variations in 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 prior to market approval as well as during the postmarketing period. This Web site provides drug developers with 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
The effective, intelligent management of many problems related to drug interactions in clinical prescribing can be helped by an understanding of how drugs are metabolized. 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.
