Software tools to use pharmacogenetic information for precision medicine- Group 1

1. WfG - Watson for Genomics

1.1. An Artificial intelligence software that analyzes and categorizes genetics alterations related to disease progression in hematological patients. It provides potential therapeutic options at the rate of 3 minutes per sample.

2. Companies working on developing precision medicine software

2.1. Clinical trial matching

2.1.1. 2bPrecise

2.2. Web-based tool

2.2.1. Syapse

2.2.2. PrecisionFDA

2.3. AI-driven software

2.3.1. Fabric Genomics

2.3.2. SOPHiA

2.3.3. Human Longevity Inc

3. Human Protein Atlas

3.1. Consortium devloping specific antibodies against every protein encoded in the human genome. Antibodies are then used to determine the cellular location of every protein in cells of human tissue.

4. NCBI - National Center for Biotechnology Information

4.1. The SPDI data model at NCBI defines variants attributing to sequence, position, deletion and insertion of nucleotides and proteins. SPDI aggregates variants in order to clarify genetic basis of disease and biological function.

5. NCI - National Cancer Institute

5.1. The Genomic Data Commons has an information system for storing, analyzing and sharing raw genomic and clinical data from cancer patients. Data is continuously analyzed in order to be used for all NCI cancer genomics projects.

6. Uniprot - Protein Database

6.1. The UniProt knowledgebase is a large resource of protein sequences and associated detailed annotation. The database contains over 60 million sequences, of which over half a million sequences have been curated by experts who critically review experimental and predicted data for each protein.

7. Difficulties applying Precision Medicine

7.1. Lack of 'open source' molecular medicine global knowledge network

7.1.1. Protecting patient information

7.1.2. Requires patient education and consent

7.2. Collection of Patient Samples

7.3. Introduction of new biomarkers

7.3.1. Multiple single biomarker tests become unfeasible

7.3.1.1. Need development of next-generation sequencing technologies such as new assays for multiple biomarkers

8. Precision Medicine highlights new technologies that can help identify and predict therapies that may benefit patients

8.1. Next Generation Sequencing

8.2. Panel SNP Microarrays

8.3. Global SNP Microarrays

8.4. Chromosomal Microarrays

8.5. Mass Spectrometry

9. Precision Medicine = Delivering the right dose of the right drug into the right patient at the right time based on the genetic information of the patient.

9.1. Typically, individualization of therapy is based on the pharmacogenomic makeup of the individual and environmental factors that alter drug disposition and response. In addition to these factors, during pregnancy, a women's body undergoes many changes that can impact the therapeutic efficacy of medications.

10. CGDnet - Cancer Drug Gene Network

10.1. Allows to look at biomarkers or targets which are downstream of oncogenes and is personalized for patients which is done through cancer type and molecular alterations

11. PHARMGKB - Clinical Pharmacogenetics Database

11.1. Diverse array of Pharmacogenomics information - contains annotations, primary literature and guidelines for adjusting doses based on genetic information

12. CPIC - Clinical Pharmacogenetics Implementation Consortium

12.1. Allows the prescription of drugs through evidence based translation of genetic laboratory test results

13. dbSNP - Single Nucleotide Polymorphism Database

13.1. Collection of all known single nucleotide polymorphisms, including small changes that involve more than one nucleotide and less than 50.

14. PreMedKB -Precision Medicine Knowledgebase

14.1. Allows to search each of the 4 components of precision medicine : Drug, Variant, Gene and Disease. Also shows the relationships of one or more of those components