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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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

Pharmacogenomics: Identification of New Drug Targets

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...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Updated: Jun 28, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Genetic testing in clinical practice.

Steven W J Lamberts1, André G Uitterlinden

  • 1Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands. s.w.j.lamberts@erasmusmc.nl

Annual Review of Medicine
|October 25, 2008
PubMed
Summary
This summary is machine-generated.

Genetic testing for common diseases has limited value due to complex genetic and environmental factors. New genomic tools are improving pharmacogenomics by identifying biomarkers for drug toxicity.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Internal Medicine
  • Genetics
  • Pharmacogenomics

Background:

  • Genetic testing for monogenic diseases has limited predictive value for phenotype due to gene-environment interactions.
  • Complex genetic traits like diabetes and cardiovascular disease are influenced by numerous genetic factors.
  • Current research employs genome-wide association studies (GWAS) to identify genetic markers for complex diseases.

Purpose of the Study:

  • To evaluate the utility of genetic testing in internal medicine.
  • To explore the role of genomic profiles in pharmacogenomics.
  • To highlight the challenges and advancements in understanding genetic influences on disease.

Main Methods:

  • Analysis of genotype-phenotype correlations in monogenic diseases.
  • Application of genome-wide association studies (GWAS) to identify genetic markers.
  • Investigation of pharmacogenomic biomarkers for predicting drug toxicity.

Main Results:

  • Genotype-phenotype prediction is limited by modifying genes, environment, and lifestyle.
  • GWAS have identified numerous genetic markers, but their functional significance is often unknown.
  • Pharmacogenomic biomarkers are emerging as valuable tools for predicting drug response and toxicity.

Conclusions:

  • The clinical utility of genetic testing for common monogenic diseases is restricted.
  • Understanding complex genetic traits requires advanced molecular tools like GWAS.
  • Genomic profiling holds significant promise for personalized medicine, particularly in pharmacogenomics.