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Genetic Testing and Genomic Screening 

Genetic Testing and Genomic Screening
Chapter:
Genetic Testing and Genomic Screening
Author(s):

Angus John Clarke

DOI:
10.1093/med/9780199896028.003.0014
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date: 30 October 2020

This chapter addresses the changes taking place in laboratory genetic investigations, the impact these are having on clinical practice and some of the difficult social, ethical and communication issues that arise as a consequence. In short, targeted genetic investigations are now being replaced by genomic (‘genome-wide’) investigations. This change is a process rather than an abrupt transformation and a role will persist for the more traditional technologies but the change is nonetheless real and progressive; it marks an important shift in clinical practice driven by changes in technology. The author emphasizes the impact of genomic screening on the practice of medicine and more broadly on society and the experience of ill health. Aspects of genetic and genomic screening outcome reporting are specifically addressed clarifying technical challenges of clinically relevant finding (pertinent finding), variant of unknown clinical significance and clinically relevant finding other than originally intended (incidental finding).

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