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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Updated: Jan 13, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Direct-to-Consumer Genetic Testing.

Julianne M O'Daniel1, Christine Kobelka2, Kimberly Foss2

  • 1Department of Medicine, The University of North Carolina at Chapel Hill School of Medicine, Chapel Hill.

NEJM Evidence
|October 28, 2025
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Summary
This summary is machine-generated.

Direct-to-consumer genetic testing offers accessible genetic data but poses challenges for healthcare professionals. This review guides clinicians in navigating DTC genetic testing, its limitations, and ethical considerations, especially in pediatrics.

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Area of Science:

  • Genetics
  • Healthcare Policy
  • Bioethics

Background:

  • Direct-to-consumer genetic testing (DTC-GT) provides individuals with direct access to their genetic information.
  • The increasing popularity of DTC-GT presents challenges for healthcare professionals in interpreting and integrating this data into patient care.
  • Understanding the scope and limitations of DTC-GT is crucial for effective clinical practice.

Purpose of the Study:

  • To provide health professionals with insights into the evolving landscape of DTC-GT.
  • To focus on the test offerings, limitations, challenges, and ethical concerns associated with DTC-GT.
  • To highlight specific issues related to DTC-GT in the pediatric population.

Main Methods:

  • This study is a review of current literature and expert insights on DTC-GT.
  • It synthesizes information on the types of tests available, their scientific validity, and potential clinical utility.
  • Ethical considerations and challenges in clinical integration are discussed.

Main Results:

  • DTC-GT offers a wide range of tests, but many lack clinical validation or are associated with significant limitations.
  • Interpreting DTC-GT results requires careful consideration of potential inaccuracies, incidental findings, and psychosocial impacts.
  • Unique challenges arise in the pediatric setting, including issues of consent, data ownership, and long-term implications.

Conclusions:

  • Clinicians must be prepared to guide patients through the complexities of DTC-GT.
  • Informed decision-making and risk minimization are paramount when patients utilize DTC-GT.
  • Healthcare professionals play a vital role in ensuring the responsible use of DTC genetic information.