Annali dell'Istituto Superiore di Sanità (Dec 2014)

Incidental findings, genetic screening and the challenge of personalisation

  • Carlo Petrini,
  • Enrico Alleva

DOI
https://doi.org/10.4415/ann_14_04_03
Journal volume & issue
Vol. 50, no. 4
pp. 312 – 316

Abstract

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Genetic tests frequently produce more information than is initially expected. Several documents have addressed this issue and offer suggestions regarding how this information should be managed and, in particular, concerning the expedience of revealing (or not revealing) it to the persons concerned. While the approaches to the management of these incidental findings (IFs) vary, it is usually recommended that the information be disclosed if there is confirmed clinical utility and the possibility of treatment or prevention. However, this leaves unsolved some fundamental issues such as the different ways of interpreting "clinical utility", countless sources of uncertainty and varying ways of defining the notion of "incidental". Guidelines and other reference documents can offer indications to those responsible for managing IFs but should not be allowed to relieve researchers and healthcare professionals of their responsibilities.

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