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Informed consent for expanded carrier screening (ECS) is complex. Research is needed to establish best practices for communicating genetic information and obtaining patient permission for reproductive genetic testing.

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Area of Science:

  • Bioethics
  • Genetics
  • Reproductive Medicine

Background:

  • Informed consent is a complex process involving patient permission before healthcare interventions.
  • Factors like provider education, genomic technology complexity, time constraints, and low health literacy challenge effective communication.
  • Historical, legal, bioethical, and geocultural influences shape informed consent practices.

Purpose of the Study:

  • To explore the complexities of informed consent in reproductive genetics.
  • To address the lack of consensus on optimal methods for obtaining informed consent for expanded carrier screening (ECS).

Main Methods:

  • This study reviews the current landscape of informed consent in reproductive genetics.
  • It examines the drivers and challenges associated with expanded carrier screening (ECS).

Main Results:

  • Expanded carrier screening (ECS) tests for numerous diseases pan-ethnically, driven by technological advances and reproductive autonomy support.
  • Despite recommendations for pretest counseling, optimal informed consent practices for ECS are not established.
  • Challenges include the complexity of genomic technologies and varying patient health literacy.

Conclusions:

  • Effective informed consent for expanded carrier screening (ECS) requires addressing communication challenges.
  • Further research is essential to establish best practices for informed consent in the context of complex genomic testing.