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Related Concept Videos

Genetic Screens02:46

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 result in visible changes...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Updated: May 23, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Towards responsible genome-wide screening: normative and stakeholder considerations.

Corrette Ploem1, Guido de Wert2, Sara Soriano Longarón3

  • 1Department of Ethics, Law and Humanities, Amsterdam UMC, Amsterdam, The Netherlands.

European Journal of Human Genetics : EJHG
|May 21, 2026
PubMed
Summary

Responsible genome-wide screening requires careful consideration of ethical issues and stakeholder views. A cautious approach is needed, especially for direct-to-consumer genetic testing, to ensure benefits outweigh harms.

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Last Updated: May 23, 2026

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Area of Science:

  • Genomics and Personalized Medicine
  • Bioethics
  • Public Health

Background:

  • Genome-wide screening offers significant potential for early disease detection and reproductive choices.
  • However, challenges exist in data analysis, result interpretation, and communication of findings.

Purpose of the Study:

  • To explore considerations for responsible genome-wide screening across different settings.
  • To analyze stakeholder views on key screening issues.

Main Methods:

  • Normative analysis of population screening, opportunistic screening, and direct-to-consumer genetic testing.
  • Exploration of views from 25 professionals and 15 potential users.

Main Results:

  • Broad consensus supports a cautious approach to genome-wide screening.
  • Proportionality (benefits outweighing harm) is crucial but not always evident for expansions.
  • Direct-to-consumer genetic testing raises the most proportionality concerns.

Conclusions:

  • Responsible implementation requires well-defined ethical frameworks and pilot studies evaluating individual and societal impacts.
  • Special attention is needed for newborns and children in all screening settings.