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Expanded Carrier Screening.

Anthony R Gregg1

  • 1Department of Obstetrics and Gynecology, University of Florida College of Medicine, PO Box 100294, Gainesville, FL 32610-0294, USA.

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|February 12, 2018
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Summary
This summary is machine-generated.

Expanded carrier screening (ECS) now offers comprehensive genetic testing for all expectant couples. This approach makes traditional residual risk calculations obsolete, highlighting the need for updated counseling strategies.

Keywords:
Expanded carrier screeningGenetic counselingPerceptions of Uncertainties in Genome Sequencing (PUGS) scalePrenatal carrier screening

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Area of Science:

  • Reproductive Genetics
  • Genomic Medicine
  • Obstetrics and Gynecology

Background:

  • Prenatal carrier screening has evolved to encompass a broader range of genes and variants.
  • Current recommendations include panethnic screening for cystic fibrosis and spinal muscular atrophy, alongside ethnicity-based screening.
  • Expanded carrier screening (ECS) is increasingly offered to all couples planning or undergoing pregnancy.

Purpose of the Study:

  • To evaluate the implications of expanded carrier screening on genetic counseling practices.
  • To determine the relevance of residual risk calculations in the context of comprehensive ECS.
  • To identify key counseling considerations for the implementation of ECS.

Main Methods:

  • Review of current guidelines and literature on prenatal carrier screening.
  • Analysis of the impact of comprehensive gene panel testing on residual risk.
  • Application of the Perception of Uncertainties in Genome Sequencing scale to counseling.

Main Results:

  • Residual risk calculations are rendered obsolete with the selection of expanded carrier screening.
  • The scope of ECS necessitates a re-evaluation of pretest and posttest counseling content.
  • The Perception of Uncertainties in Genome Sequencing scale provides a framework for addressing counseling concerns.

Conclusions:

  • Expanded carrier screening represents a significant shift in prenatal genetic testing.
  • Traditional counseling methods based on residual risk are no longer appropriate for ECS.
  • Implementing ECS requires updated counseling strategies focusing on patient understanding of genomic information and uncertainties.