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Related Concept Videos

Genetic Screens02:46

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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.
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Genetic Testing: Consent and Result Disclosure for Primary Care Providers.

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Summary

Primary care providers (PCPs) can adapt genetic counseling models for genetic testing. Learning key concepts and discussing initial cases with genetic counselors prepares PCPs for informed patient testing decisions.

Keywords:
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Area of Science:

  • Medical Genetics
  • Primary Care Medicine
  • Genetic Counseling

Background:

  • Traditionally, genetic counseling (pretest and posttest) is standard for genetic testing.
  • Primary care providers (PCPs) are increasingly involved in ordering genetic tests.

Purpose of the Study:

  • To provide guidance for adapting genetic counseling models for PCPs.
  • To define the appropriate level of PCP involvement in genetic testing counseling.

Main Methods:

  • Literature review and synthesis of current genetic testing and counseling practices.
  • Development of a framework for PCP involvement based on clinical factors.

Main Results:

  • PCPs require specific training on genetic test information and counseling concepts.
  • Collaboration with genetic counselors is beneficial for PCP preparation.
  • PCP involvement should be tailored based on test indication, complexity, disorder management, and psychosocial risks.

Conclusions:

  • Adapting genetic counseling for PCPs is feasible and necessary.
  • PCPs can effectively provide essential pretest and posttest counseling with appropriate preparation.
  • A tiered approach to PCP involvement ensures optimal patient care in genetic testing.