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Genetic Screens

Genetic Screens

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: Jun 23, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Polygenic embryo screening: quo vadis?

Maria Siermann^1,2, Joris Robert Vermeesch³, Taneli Raivio⁴

¹Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Kapucijnenvoer 7, Box 7001, 3000, Leuven, Belgium. maria.siermann@kuleuven.be.

Journal of Assisted Reproduction and Genetics

|June 15, 2024

Summary

This summary is machine-generated.

Polygenic risk scores in embryo screening (PGT-P) face criticism regarding evidence and ethics. Careful consideration of PGT-P implementation, counseling, and decision-making is crucial for responsible clinical use.

Keywords:

Ethics PGT-P Points to consider Polygenic embryo screening Polygenic risk scores Preimplantation genetic testing

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Published on: September 7, 2021

Area of Science:

Reproductive genetics
Bioethics
Genetic counseling

Background:

Polygenic risk scores in embryo screening (PGT-P) aim to reduce inherited disease risk.
PGT-P has faced significant criticism regarding its scientific validity, clinical utility, ethical implications, and societal impact.
Despite ongoing debate, PGT-P is being offered in some clinical settings.

Purpose of the Study:

To critically examine the scientific foundations and criticisms surrounding PGT-P.
To explore the complexities of responsible clinical implementation of PGT-P.
To identify key elements for PGT-P counseling and user decision-making.

Main Methods:

Review of scientific literature on PGT-P.
Analysis of ethical and societal concerns related to PGT-P.
Examination of practical aspects of PGT-P clinical integration.

Main Results:

PGT-P is currently considered more "technology-driven" than "evidence-based".
Significant questions remain regarding PGT-P's validity, utility, and ethical framework.
Practical considerations for PGT-P include target population, scope, and decision-making processes.

Conclusions:

Responsible implementation of PGT-P requires careful consideration of its scientific basis and ethical challenges.
Development of guidelines and ethical frameworks is essential for PGT-P.
Further attention is needed on specific aspects like target groups, scope, and user decision-making support for PGT-P.