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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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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.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
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Related Experiment Video

Updated: May 28, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Improving Access to Expanded Genetic Carrier Screening Through Multimodal Interventions.

Lauren N Meiss1, Shefali Pathy1, Sarah E Baxley1

  • 1Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University, New Haven, Connecticut, USA.

Journal of Women'S Health (2002)
|February 10, 2025
PubMed
Summary

Genetic carrier screening (GCS) offers vital information for expectant parents. Educational interventions significantly improved healthcare provider comfort and increased the documentation of GCS offers to patients.

Keywords:
carrier screeningdidacticelectronic medical recordgenetic counselingprenatal careresident education

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Area of Science:

  • Reproductive Medicine
  • Medical Education
  • Genetics

Background:

  • The American College of Obstetricians and Gynecologists recommends genetic carrier screening (GCS) for all pregnant or planning-to-be-pregnant individuals.
  • Gaps in GCS offering were observed at an urban academic center, indicating potential barriers.

Purpose of the Study:

  • To address barriers to GCS offering, including healthcare provider comfort and standardized resources.
  • To increase the number of patients offered genetic carrier screening.

Main Methods:

  • A needs assessment identified provider comfort levels and barriers within an urban academic OBGYN clinic.
  • Interventions included a didactic educational session and electronic medical record template modifications.
  • Impact was evaluated through post-didactic assessments, statistical analysis, and documentation tracking.

Main Results:

  • Preintervention, only 38% of initial obstetric visits documented GCS preference.
  • Needs assessment revealed limited provider comfort with expanded GCS.
  • Postintervention, provider comfort significantly increased, especially in pre- and post-test counseling.
  • Documentation of carrier screening preference substantially increased postintervention.

Conclusions:

  • Targeted educational interventions effectively improved provider confidence in offering GCS.
  • The study demonstrated a significant increase in GCS counseling documentation.