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Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.9K
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...
5.9K
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

131
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
131
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.7K
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...
16.7K

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Related Experiment Video

Updated: Apr 6, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Global genetic carrier testing: a vision for the future.

Arthur L Beaudet1

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA.

Genome Medicine
|July 30, 2015
PubMed
Summary

Expanded genetic carrier testing offers significant potential to prevent serious inherited single-gene disabilities. This requires careful variant curation and clear communication strategies for informed family decision-making.

Area of Science:

  • Genetics
  • Clinical Practice
  • Bioinformatics

Background:

  • Expanded genetic carrier testing is increasingly integrated into clinical practice.
  • Managing large variant databases necessitates robust curation of pathogenicity and phenotypic data.
  • Informed decision-making by families requires accessible presentation of complex genetic information.

Purpose of the Study:

  • To highlight the necessity of rigorous variant curation in expanded genetic carrier testing.
  • To emphasize the need for effective strategies in communicating genetic information to families.
  • To underscore the potential of genetic testing to prevent inherited single-gene disorders.

Main Methods:

  • Review of current clinical practices in expanded genetic carrier testing.

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  • Analysis of challenges in variant curation and interpretation.
  • Exploration of communication strategies for genetic counseling.

    • Main Results:

    • Tens of thousands of genetic variants require meticulous curation for clinical utility.
    • Effective strategies are needed to present complex genetic data to families for informed choices.
    • The majority of serious inherited, non-de novo, single-gene disabilities may be preventable.

    Conclusions:

    • Rigorous variant curation is essential for the clinical implementation of expanded genetic carrier testing.
    • Developing clear communication frameworks is crucial for empowering families in reproductive decision-making.
    • Expanded genetic carrier testing holds significant promise for reducing the burden of inherited single-gene diseases.