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Population Screening in Health Systems.

Marc S Williams1

  • 1Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, USA;

Annual Review of Genomics and Human Genetics
|February 17, 2022
PubMed
Summary

Genomic population screening programs are growing globally, with diverse approaches to conditions, technology, and results. This review analyzes these models to identify optimal implementation strategies for healthcare systems.

Keywords:
geneticsgenomic medicinegenomicsimplementationpopulation screeningprecision medicine

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Area of Science:

  • Genomic Medicine
  • Population Health
  • Healthcare Systems

Background:

  • Genomic applications in population screening are rapidly increasing worldwide.
  • Programs are primarily in clinical research but clinical models are emerging.
  • Implementation occurs within diverse healthcare system contexts.

Purpose of the Study:

  • To review and analyze current genomic population screening programs.
  • To identify commonalities and variations in program design and execution.
  • To understand factors influencing optimal implementation strategies.

Main Methods:

  • Systematic review of genomic population screening initiatives.
  • Analysis of screened conditions, genomic technologies, and results disclosure.
  • Evaluation of health outcomes, financial models, and sustainability.

Main Results:

  • Significant diversity observed across programs in screened conditions and genomic technologies.
  • Varied approaches to results disclosure, health outcomes, and financial sustainability.
  • Emerging clinical models alongside established research settings.

Conclusions:

  • The heterogeneity of genomic screening programs offers valuable insights.
  • Understanding contextual factors is crucial for successful implementation.
  • Further research can define optimal strategies for sustainable genomic screening.