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Related Concept Videos

Genomics02:02

Genomics

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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...
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Pharmacogenomics: Identification of New Drug Targets01:29

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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...
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Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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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...
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Issues And Trends In Healthcare Delivery System01:29

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The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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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...
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Combination Therapies and Personalized Medicine02:50

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Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
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A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
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Developing genomic knowledge bases and databases to support clinical management: current perspectives.

Vojtech Huser1, Murat Sincan2, James J Cimino3

  • 1Laboratory for Informatics Development, National Institutes of Health Clinical Center, Bethesda, MD, USA.

Pharmacogenomics and Personalized Medicine
|October 3, 2014
PubMed
Summary
This summary is machine-generated.

Personalized medicine requires robust informatics resources for interpreting genomic data. Current knowledge bases are insufficient, necessitating consolidation for comprehensive clinical decision support.

Keywords:
clinical decision supportclinical informaticsdatabasesknowledge basespersonalized medicine

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Area of Science:

  • Genomic Medicine
  • Bioinformatics
  • Clinical Decision Support

Background:

  • Personalized medicine aims to tailor treatments to individual patients.
  • Genomic testing is crucial for personalized medicine, but interpretation of results presents challenges.

Purpose of the Study:

  • To characterize available and emerging informatics resources for interpreting clinical genomic test results.
  • To identify needs for knowledge bases and databases supporting personalized medicine.

Main Methods:

  • Analysis of informatics resources for clinical interpretation of germline whole-exome sequencing data.
  • Characterization of genomic input data and knowledge bases.
  • Identification of requirements for patient-level databases.

Main Results:

  • Existing informatics resources are fragmented and cannot fully support personalized medicine recommendations.
  • A need exists for comprehensive, lifelong patient-level phenotype and genotype data.
  • No single knowledge base currently integrates all necessary information.

Conclusions:

  • Consolidation of current resources into larger, dynamic, and collaborative knowledge bases is a potential future direction.
  • Enhanced informatics infrastructure is critical for advancing personalized medicine.
  • Integrated knowledge bases are essential for effective clinical decision support in genomics.