Table 1.
Resources of value for PGx implementation
| Resource | Description | URL |
|---|---|---|
| Pharmacogenomics Research Network (PGRN) | The mission of the PGRN is to catalyze and lead research in precision medicine for the discovery and translation of genomic variation influencing therapeutic and ADRs adverse drug effects. | http://www.pgrn.org/ |
| PharmGKB | PharmGKB is a publicly available, online knowledgebase responsible for the aggregation, curation, integration, and dissemination of knowledge regarding the impact of genomic variation on drug response. The main goal of PharmGKB is to aid researchers in understanding how variation in a person’s genome affects how he or she responds to a drug. | https://www.pharmgkb.org/ |
| PharmCAT | PharmCAT is developing a software tool to extract all CPIC guideline PGx variants from a genomic dataset (represented as a VCF), interpret the variant alleles, and generate a report. The CPIC-pipeline report can then be used to make future treatment decisions. This project was created to address the lack of a freely available resource able to automate the annotation of VCF files with appropriate haplotypes or diplotypes from CPIC guidelines. The project is open-source and any code script is posted in GitHub. | https://github.com/PharmGKB/PharmCAT |
| Clinical Pharmacogenetics Implementation Consortium (CPIC) | CPIC provides guidelines that enable the translation of laboratory test results into actionable prescribing decisions for specific drugs. CPIC tables, created jointly with PharmGKB, allow translation of PGx test results to actionability. They are peer-reviewed and published in a leading journal with simultaneous online posting with supplemental information/data and updates. CPIC’s goal is to address some of the barriers to implementation of PGx tests into clinical practice. | https://cpicpgx.org/ |
| Dutch Pharmacogenetics Working Group (DPWG) | The objectives of the DPWG are to develop PGx-based therapeutic (dose) recommendations and to assist drug prescribers and pharmacists by integrating the recommendations into computerized systems for drug prescription and automated medication surveillance. | https://www.pharmgkb.org/page/dpwg |
| Displaying and Integrating Genetic Information Through the EHR Action Collaborative” (DIGITizE AC) | DIGITizE AC is a consortium effort to develop PGx-guided CDS guidelines, enabling other collaborations to freely re-use them. They produce implementation guides to facilitate the incorporation of PGx testing into clinical medicine. | http://www.nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/Innovation-Collaboratives/EHR.aspx?page=1 |
| Clinical Decision Support KnowledgeBase (CDS-KB) | The goal of CDS-KB is to catalog and share CDS implementation artifacts and to serve as a collection of practical experiences and resources to enable more rapid translation and implementation of genomic medicine. | https://cdskb.org/ |
| IGNITE SPARK | The SPARK Toolbox is an online information resource library focused on the field of genomics. The IGNITE Network reviews, adds, and organizes new information resources to support genomic medicine implementation. The Network was created to enhance the use of genomic medicine by supporting the development of methods for incorporating genomic information into clinical care and exploration of the methods for effective implementation, diffusion, and sustainability in diverse clinical settings. The ultimate goal is to help clinicians incorporate genomics into their practices and researchers study the best ways to use genomics in healthcare. | https://ignite-genomics.org/spark-toolbox/ |
| Genetic Test Registry (GTR) | GTR provides a central location for voluntary submission of genetic test information by providers; it is a registry that provides information on the methodology behind test results and describes them uniquely. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. | https://www.ncbi.nlm.nih.gov/gtr/ |
| ClinVar | ClinVar is an archival database of interpretations about the clinical significance of genomic variants and their relationship to phenotypes. It facilitates access to and communication about the relationships asserted between human genomic variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient genomes, assertions made regarding their clinical significance, information about the submitter, and other supporting data. | https://www.ncbi.nlm.nih.gov/clinvar/ |
| MedGen | MedGen is a portal about conditions and phenotypes related to medical genetics. Its goal is to provide information on conditions with a genetic component and practice guidelines, position statements, and recommendations for many conditions. Terms from GTR, UMLS, HPO, Orphanet, ClinVar, and other sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. It organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution. | https://www.ncbi.nlm.nih.gov/medgen/ |
| Medical Genetic Summaries | Medical Genetic Summaries is a growing collection of summaries that describe the impact that specific genomic variants have on health. They are concise, structured reviews about genomic variants and drug responses and is integrated with GTR and MedGen. The summaries review genomic variants that underlie inherited conditions, affect the risk of developing a disease in the future, or influence how an individual may respond to a specific drug. | https://www.ncbi.nlm.nih.gov/books/NBK61999/ |