Key Points
• 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.
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Dondorp, W., de Wert, G., Cornel, M.C. (2010). The Quality of Genetic Screening: An Integral Approach. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_17
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