TABLE 1.
Program or resource with website link | Description |
---|---|
AMP: Association of Molecular Pathology https://www.amp.org/ |
➢ It is an international non-profit scientific society that aims to enhance the science and clinical practice of molecular and genomic laboratories |
➢ It provides guidelines and global expertise in the field of molecular pathology | |
➢ It also provides recommendations for the choice of genetic variants that ought to be tested | |
CPIC: Clinical Pharmacogenetics Implementation Consortium https://cpicpgx.org/ |
➢ It is an international consortium of volunteers and staff that aim to facilitate the use of PGx tests in clinical care |
➢ It creates, curates, and posts freely available, peer-reviewed, evidence-based, updatable, and detailed gene/drug clinical practice guidelines | |
➢ All guidelines are published in the Clinical Pharmacology and Therapeutics journal | |
e-MERGE: Electronic Medical Records and Genomics Network https://emerge-network.org/ |
➢ It is a US network of academic medical centers that integrate genomic data with EHR |
➢ It aims to sequence and clinically implement relevant genotypes into healthcare through EHR and CDS incorporation. It also aims to discover and assign phenotypes of rare and presumably clinically relevant variants | |
➢ It provides resources and tools (informatics, education) including EHR and CDS infrastructure to assist in the implementation of PGx into practice. CDS-KB (Clinical Decision Support Knowledgebase) (https://cdskb.org/) is one of the tools that is supported by e-MERGE in collaboration with IGNITE shown below | |
IGNITE: Implementing Genomics in Practice https://gmkb.org/ignite-gdp/ |
➢ It is a US network that supports genomic implementation in healthcare setting |
➢ It aims to develop, use, and evaluate new strategies and clinical models for implementing individuals’ genomic information into clinical practice | |
➢ It provides a Toolbox for clinicians that consists of a collection of genomic practice models related to disease diagnosis, pharmacogenomics and risk assessment. And for researchers, it provides guides and educational material on data collection, laboratory testing, research and training development tools. It has also developed a map for reimbursement of PGx tests | |
PGRN: Pharmacogenomics Global Research Network https://www.pgrn.org/what-is-pgrn.html |
➢ It is a community driven international network that includes academic institutions, diagnostic laboratories, biotechnology, pharmaceutical industry, and clinical practitioners |
➢ It aims to guide and lead precision medicine for actionable variants, and to establish a worldwide collaboration of PGx researchers with a focus on supporting PGx in developing countries | |
➢ It provides its members with links to implementation resources, algorithms for PGx-based dosing, PGx competencies for teachers, Research-in-Progress Seminar series (RIPS), and patient education | |
PharmCAT: Pharmacogenomics Clinical Annotation Tool https://pharmcat.org/ |
➢ It is a software tool that can extract CPIC PGx variants and represent them with the suitable star allele haplotype/diplotype |
➢ It provides interpretation, and generates a report for the variant alleles | |
PharmGKB: Pharmacogenomics Knowledge Base https://www.pharmgkb.org/ |
➢ It is a publicly available resource that is responsible for the integration and dissemination of information related to genomic variation and drug response |
➢ It aims to help healthcare providers and researchers find information about genetic polymorphisms and their effect on drugs’ efficacy and safety | |
➢ The website includes information and links to curated pathways, Very Important Pharmacogenes (VIP), PGx prescribing information, drug label PGx annotations, as well as PGx variant and clinical annotations based on updated evidence-based criteria | |
PharmVar: Pharmacogene Variation Consortium https://www.pharmvar.org/ |
➢ It is a central repository for PGx haplotypes and allelic variants with a focus on drug metabolizing enzymes |
➢ It aims to facilitate basic and clinical research and the interpretation of PGx tests’ results | |
➢ It also provides a unifying designation system (nomenclature) for the global PGx community |
EHR: electronic health records; CDS: clinical decision support.