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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genome-wide Association Studies-GWAS01:11

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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.
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Teratogenicity01:07

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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Updated: Aug 16, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Robert S Wildin1, Diana L Gerrard2, Debra G B Leonard3

  • 1Laboratory Medicine and Pediatrics & Departments of Pathology, Robert Larner M.D. College of Medicine at the University of Vermont, University of Vermont Health Network, Burlington, VT 05401, USA.

Journal of Personalized Medicine
|December 23, 2022
PubMed
Summary
This summary is machine-generated.

This study shows that a 432-gene genomic screening test in primary care is feasible and effective. It identifies genetic health risks and carrier statuses for many individuals, paving the way for broader genomic medicine implementation.

Keywords:
carrier statusclinical genomicsgene panelsgenomic screeninginherited health riskpopulation healthprimary care providersreal-world experience

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Area of Science:

  • Genomic Medicine
  • Population Health
  • Clinical Genetics

Background:

  • Genomic population health screening programs require new methods for implementation.
  • This study reports the first genomic population screening in a primary care setting, outside of research.
  • A combined 432-gene sequencing panel for carrier and health risk genes was used.

Purpose of the Study:

  • To demonstrate the feasibility and effectiveness of a novel genomic screening test in a primary care setting.
  • To analyze patterns of pathogenic and likely pathogenic genetic findings in the first 300 individuals tested.
  • To develop a classification system for gene results to aid in patient and provider communication.

Main Methods:

  • A 432-gene sequencing panel was offered to adults of any health status in a primary care setting.
  • Demographic data and genetic findings were summarized for 300 individuals.
  • A classification system was devised for gene results and a messaging tool was developed.

Main Results:

  • Potential genetic health risks were identified in 16% to 34% of individuals, depending on risk criteria.
  • 86% of individuals were found to be carriers for one or more recessive diseases.
  • The screening test successfully detected diverse genetic health risks and recessive carrier states.

Conclusions:

  • Genomic population screening in primary care using a combined gene panel is feasible and effective.
  • This approach facilitates the detection and management of various genetic conditions.
  • This study represents a significant step towards utilizing exome or genome sequencing as a multipurpose clinical screening tool.