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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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The Participant-Reported Implementation Update and Score PRIUS: A Novel Method for Capturing Implementation-Related Data Over Time
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Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000

Caitlin G Allen1, Kelly J Hunt1, Lori L McMahon1

  • 1Medical University of South Carolina, Charleston, SC, USA.

American Journal of Human Genetics
|February 2, 2024
PubMed
Summary

The In Our DNA SC program successfully enrolled over 20,000 participants in population-wide genomic screening (PWGS). This initiative identified 137 individuals with actionable genetic variants, with most opting for genetic counseling.

Keywords:
CDC Tier 1 conditionsfamilial hypercholesterolemiaimplementation scienceinherited cancerpopulation screening

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Area of Science:

  • Genomic Medicine
  • Implementation Science
  • Public Health Genomics

Background:

  • Population-wide genomic screening (PWGS) offers a proactive approach to identifying individuals with genetic predispositions to diseases.
  • The RE-AIM (Reach, Effectiveness, Adoption, Implementation, and Maintenance) framework provides a robust structure for evaluating the success of public health interventions.
  • Understanding the practical implementation of PWGS programs is crucial for optimizing their reach and impact within diverse populations.

Purpose of the Study:

  • To evaluate the outcomes of the In Our DNA SC population-wide genomic screening program using the RE-AIM framework.
  • To identify facilitators and barriers encountered during the implementation of a state-wide PWGS initiative.
  • To assess participant engagement, variant detection, and uptake of genetic counseling within the program.

Main Methods:

  • The study employed the RE-AIM framework to analyze data from the first cohort of the In Our DNA SC program.
  • Participant recruitment occurred through clinical appointments, community events, and at-home sample collection kits.
  • Genomic sequencing was performed by Helix, with genetic counseling offered for identified pathogenic or likely pathogenic variants for CDC Tier 1 conditions.

Main Results:

  • Over 14 months, 20,478 participants enrolled, with 14,053 samples collected, predominantly via at-home kits.
  • The program identified 137 individuals with pathogenic or likely pathogenic variants for CDC Tier 1 conditions.
  • High rates of genetic counseling agreement (77.4%) and completion (80.2%) were observed among eligible participants.

Conclusions:

  • The In Our DNA SC program demonstrated successful implementation and participant engagement in PWGS.
  • At-home sample collection emerged as a key facilitator for sample return and program completion.
  • Standardized reporting using implementation science frameworks is vital for generalizing PWGS strategies and enhancing their public health impact.