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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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Improving Translational Accuracy02:07

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Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
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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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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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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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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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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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Updated: Apr 6, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Bridging the Gap in Genomic Implementation: Identifying User Needs for Precision Nephrology.

Jerard Z Kneifati-Hayek1, Teena Zachariah2, Wooin Ahn2

  • 1Division of General Medicine, Department of Medicine, Columbia University, New York, USA.

Kidney International Reports
|August 19, 2024
PubMed
Summary
This summary is machine-generated.

Nephrologists face challenges integrating genomic medicine into kidney care, citing cost and limited genomics experience as key barriers. Tailored decision support tools are needed to improve personalized nephrology.

Keywords:
clinical decision supportelectronic health recordgenetic kidney diseasegenomics implementationprecision medicine

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Area of Science:

  • Genomic Medicine
  • Nephrology
  • Implementation Science

Background:

  • Genomic medicine offers personalized nephrology care, but clinical integration is challenging.
  • Electronic health record (EHR)-based clinical decision support (CDS) systems have had limited impact.
  • Understanding nephrologists' challenges is crucial for effective genomic resource implementation.

Purpose of the Study:

  • To identify nephrologists' specific challenges in utilizing genomic resources.
  • To inform the development of precision nephrology decision support tools.
  • To guide the integration of genomics into clinical practice for improved kidney disease outcomes.

Main Methods:

  • An anonymous electronic survey was distributed to US nephrologists.
  • The survey, guided by the Consolidated Framework for Implementation Research, assessed practice characteristics, genomic resource use, attitudes, knowledge, and genetic testing decision factors.
  • Data were collected from January 19, 2021, to May 19, 2021.

Main Results:

  • 319 surveys were analyzed, primarily from adult nephrologists.
  • Respondents acknowledged the utility of genomic resources but showed varying knowledge and self-efficacy in precision nephrology.
  • Key barriers to genetic testing included cost/insurance coverage and limited genomics experience.

Conclusions:

  • Nephrologists encounter specific hurdles in using genomic resources for patient care.
  • Developing tailored interventions and CDS systems is essential for effective genomic integration.
  • Addressing informational and workflow needs will advance personalized nephrology and improve kidney disease outcomes.