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Ethical, Legal, and Social Issues in Clinical Genomics 

Ethical, Legal, and Social Issues in Clinical Genomics
Chapter:
Ethical, Legal, and Social Issues in Clinical Genomics
Author(s):

Caroline F. Wright

, Anna Middleton

, and Michael Parker

DOI:
10.1093/med/9780199896028.003.0017
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date: 30 October 2020

The scope and breadth of laboratory genetic testing is likely to expand, from the niche specialty of clinical genetics focused primarily on targeted diagnostic testing of families with inherited disorders and birth defects, to genome sequencing of individuals throughout mainstream medicine to allow increasingly stratified diagnosis and treatment. Does the shift from genetics to genomics raise any new ethical, legal or social issues? Although at first sight there might appear to be nothing new beyond the scale and flexibility of genomic testing, the creation of unprecedented amounts of personal identifiable data with a multiplicity of medical (and other) applications has novel ethical implications particularly around responsible data stewardship. Genome sequencing is not only likely to be the first medical test where everyone will have a positive result of some clinical value, but also one where the vast majority of results will be of little or no value whatsoever. This change in scale therefore creates enormous challenges from accurately interpreting variants in individuals, families and populations, to protecting individual privacy and managing public expectations, and to the delineation of the responsibilities and duties of care of clinicians and researchers.

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