The quality of genetic screening: An integral approach

Wybo Dondorp, Guido De Wert, Martina C. Cornel

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

3 Citations (Scopus)


Genetic screening, as opposed to diagnosis, is offered to persons not known to have an indication for testing based on symptoms or increased risk. • Several frameworks of criteria are available to evaluate whether the benefits of genetic screening outweigh the drawbacks that it always also entails. • A reliable and valid screening method has a high analytic and clinical validity, implying a high sensitivity and specificity; the clinical utility of a screening method reflects whether screening helps to prevent or reduce the burden of disease, and whether the benefits to participants outweigh the drawbacks. • Advantages to participants may go beyond treatment and prevention; especially when genetic screening is applied for reproductive reasons and for untreatable conditions. • Ethical and economical aspects have to be integrated in a comprehensive approach to the evaluation of the quality of genetic screening programmes.

Original languageEnglish
Title of host publicationQuality Issues in Clinical Genetic Services
PublisherSpringer Netherlands
Number of pages8
ISBN (Electronic)9789048139194
ISBN (Print)9789048139187
Publication statusPublished - 1 Jan 2010


  • Autonomy
  • Clinical utility
  • Cost-effectiveness
  • Genetic screening
  • Screening criteria

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