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Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.5K
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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Related Experiment Video

Updated: Jan 4, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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An Electronic Strategy for Eliminating Unnecessary Duplicate Genetic Testing.

Jacquelyn D Riley1, Glenn Stanley2, Robert Wyllie3

  • 1Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH.

American Journal of Clinical Pathology
|October 31, 2019
PubMed
Summary
This summary is machine-generated.

An electronic intervention successfully prevented 710 duplicate genetic tests, saving nearly $100,000. This system improves healthcare efficiency by stopping unnecessary genetic testing and guiding providers to prior results.

Keywords:
Clinical decision supportDuplicate testingMolecular genetic testingUtilization management

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Area of Science:

  • Health Informatics
  • Clinical Genetics
  • Healthcare Management

Background:

  • Duplicate constitutional genetic testing contributes to healthcare waste.
  • Efficient systems are needed to prevent redundant diagnostic procedures.

Purpose of the Study:

  • To evaluate the impact of an electronic intervention aimed at preventing duplicate constitutional genetic tests.
  • To assess the effectiveness, cost savings, and override patterns of the electronic intervention.

Main Methods:

  • Development and implementation of an electronic intervention to block duplicate genetic tests.
  • Analysis of intervention activation frequency, affected test types, cost savings, and override request justifications.

Main Results:

  • The intervention successfully prevented 710 duplicate genetic tests over three years, resulting in $98,596 in cost savings.
  • High alert frequencies were observed for presurgical and transplant screening tests, often within order sets.
  • Most override requests were attributed to initial programming limitations regarding exclusion codes.

Conclusions:

  • Well-designed electronic interventions can significantly reduce waste and healthcare costs associated with duplicate genetic testing.
  • These systems enhance patient care by ensuring providers are aware of previously performed tests.