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Updated: May 11, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Secondary variants--in defense of a more fitting term in the incidental findings debate
Gabrielle M Christenhusz1, Koenraad Devriendt, Kris Dierickx
1Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, Catholic University of Leuven, Leuven, Belgium.
Abstract:
New genetic technologies are capable of returning far more information than the single answer to the single question posed when conducting a given genetic test. Genetics contexts consequently stand on the brink of an explosion of what have traditionally been called 'incidental findings'. However, the continued use of this term is controversial. Various replacements for 'incidental findings' have been attempted, but none with widespread success. Agreement on terminology and definitions is vital so that the legal and ethical debate around incidental findings can proceed. We highlight the difficulties raised by the various terms currently used as alternatives, and end by defending our choice for the term 'secondary variants'.
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