The quality of genetic screening: An integral approach

Wybo Dondorp; Guido De Wert; Martina C. Cornel

doi:10.1007/978-90-481-3919-4_17

The quality of genetic screening: An integral approach

Wybo Dondorp^*, Guido De Wert, Martina C. Cornel

^*Corresponding author for this work

Human genetics

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

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.

Original language	English
Title of host publication	Quality Issues in Clinical Genetic Services
Publisher	Springer Netherlands
Pages	165-172
Number of pages	8
ISBN (Electronic)	9789048139194
ISBN (Print)	9789048139187
DOIs	https://doi.org/10.1007/978-90-481-3919-4_17
Publication status	Published - 1 Jan 2010

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AU - Cornel, Martina C.

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AB - 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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The quality of genetic screening: An integral approach

Abstract

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