The quality of genetic screening: An integral approach

Abstract

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.