Related Experiment Video
Updated: May 5, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
36.1K
Providing pharmacogenomics clinical decision support using whole genome sequencing data as input
Vojtech Huser1, James J Cimino
1Laboratory for Informatics Development, Bethesda, MD, USA.
Summary
Automated pharmacogenomics (PGx) decision support can be enabled using dosing guidelines and whole genome sequencing. This study explored generating clinical recommendations from PGx guidelines using WGS data.
Area of Science:
- Genomics
- Clinical Pharmacology
- Bioinformatics
Background:
- Pharmacogenomics (PGx) is crucial for personalized medicine, driving the adoption of pre-emptive genetic testing.
- Automated clinical decision support systems are needed to integrate PGx into routine healthcare.
- Whole genome sequencing (WGS) offers a comprehensive approach to genetic profiling compared to genotyping arrays.
Purpose of the Study:
- To investigate the feasibility of automated pharmacogenomic decision support.
- To evaluate the utility of pharmacogenomics dosing guidelines (PDGs) for generating clinical alerts.
- To assess the value of whole genome sequencing (WGS) data for comprehensive genetic profiling in PGx.
Main Methods:
- Analysis of existing pharmacogenomics dosing guidelines (PDGs) for automated execution.
- Utilization of whole genome sequencing (WGS) data to obtain patient genetic profiles.
- Pilot study generating clinical recommendations for 69 patients using public WGS data and PDGs.
Main Results:
- Generated clinical recommendations based on PDGs for a pilot cohort.
- Identified additional genetic variations through WGS not covered by current PDGs.
- Demonstrated the potential for WGS to provide a more complete genetic profile for PGx.
Conclusions:
- Automated pharmacogenomic decision support is achievable using PDGs and WGS data.
- WGS provides a more comprehensive genetic profile, revealing variations beyond current guideline coverage.
- Further development is needed to integrate WGS-derived PGx insights into clinical practice.
More Related Videos
Related Concept Videos
01:29Pharmacogenomics: Identification of New Drug Targets
121
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
121
01:29Pharmacogenetics and Pharmacogenomics: Overview
253
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
253
02:02Genomics
35.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
35.5K
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
159
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
159
01:11Genome-wide Association Studies-GWAS
12.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.6K
01:27Pharmacogenetics of Drug Metabolism: Overview
194
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
194