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Expanded carrier screening: counseling and considerations.

Teresa N Sparks1

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, 550 16th St, Box 0132, San Francisco, CA, 94143, USA. teresa.sparks@ucsf.edu.

Human Genetics
|November 4, 2019
PubMed
Summary

Expanded carrier screening (ECS) identifies individuals carrying genetic disease variants, informing reproductive choices. While offering broad, ancestry-independent insights, ECS presents limitations like unexpected findings and downstream costs, necessitating thorough genetic counseling.

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Area of Science:

  • Genetics
  • Reproductive Health
  • Medical Diagnostics

Background:

  • Carrier screening aims to detect asymptomatic carriers of genetic disease variants.
  • Approaches include ethnicity-based, pan-ethnic, and expanded carrier screening (ECS).
  • ECS offers a comprehensive, ancestry-independent method for reproductive risk assessment.

Purpose of the Study:

  • To evaluate the benefits and limitations of expanded carrier screening (ECS).
  • To highlight the importance of genetic counseling in carrier screening.
  • To inform reproductive decision-making through comprehensive genetic risk assessment.

Main Methods:

  • ECS screens for a large number of genetic diseases regardless of ethnic background.
  • Ideally performed prior to conception for maximum reproductive planning utility.
  • Involves detailed genetic counseling both before and after screening.

Main Results:

  • ECS provides extensive reproductive information, independent of ancestry.
  • Potential for unexpected findings and uncertainty regarding disease phenotype.
  • Increased downstream costs for further testing and genetic counseling.

Conclusions:

  • ECS is a voluntary approach to identify genetic disease carriers.
  • Benefits include broad, ancestry-independent information for reproductive choices.
  • Limitations necessitate comprehensive genetic counseling to manage unexpected results and costs.