Abstract
One important aspect of precision medicine aims to deliver the right medicine to the right patient at the right dose at the right time based on the unique ‘omics’ features of each individual patient, thus maximizing drug efficacy and minimizing adverse drug reactions. However, fragmentation and heterogeneity of available data makes it challenging to readily obtain first-hand information regarding some particular diseases, drugs, genes and variants of interest. Therefore, we developed the Precision Medicine Knowledgebase (PreMedKB) by seamlessly integrating the four fundamental components of precision medicine: diseases, genes, variants and drugs. PreMedKB allows for search of comprehensive information within each of the four components, the relationships between any two or more components, and importantly, the interpretation of the clinical meanings of a patient's genetic variants. PreMedKB is an efficient and user-friendly tool to assist researchers, clinicians or patients in interpreting a patient's genetic profile in terms of discovering potential pathogenic variants, recommending therapeutic regimens, designing panels for genetic testing kits, and matching patients for clinical trials. PreMedKB is freely accessible and available at http://www.fudan-pgx.org/premedkb/index.html#/home.
Highlights
Precision medicine refers to the medical model that tailors an individual patient’s pan-omic data, lifestyle and environment to analyze the disease pathogenicity at the molecular level and to utilize targeted treatments to address that individual patient’s disease process
Being data-driven in nature, precision medicine deeply relies on the robustness of sequencing technology, data analysis methods and knowledge to interpret the clinical meanings of genomic variants
PreMedKB is built to provide a resource for integrating information on diseases, genes, variants, drugs, and the relationships between any two or more of these four components with an important goal of facilitating the interpretation of the clinical meanings of a patient’s genetic variants
Summary
Precision medicine refers to the medical model that tailors an individual patient’s pan-omic data, lifestyle and environment to analyze the disease pathogenicity at the molecular level and to utilize targeted treatments (possibly in combination) to address that individual patient’s disease process. Ever since the concept of precision medicine emerges, it has shown the potential of profoundly improving the practice of medicine, as well as promoting the pace of drug development and gaining insight into genetic diseases [5,6,7]. Being data-driven in nature, precision medicine deeply relies on the robustness of sequencing technology, data analysis methods and knowledge to interpret the clinical meanings of genomic variants. It has been well recognized that clinical interpretation of the genomic variants underlying a patients’ disease is the bottleneck of the workflow of precision medicine [8]. Disclaimers: PreMedKB should be considered as a research tool only; use of the information from PreMedKB for medical purposes is discouraged and the user should seek a physician’s advice on the suitability of the information in PreMedKB
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