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Updated: Oct 12, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic testing-whether to allow complete freedom? Direct to consumer tests versus genetic tests for medical purposes
Madej Malgorzata1, Sąsiadek Maria2, Witt Michał3
1Institute of Political Science, University of Wroclaw, Wrocław, Poland.
Abstract:
Direct-to-consumer tests opened the opportunity of genetic testing without medical supervision, e.g., without medical referral and medical interpretation of the results. Thus, these approaches allow for free access to information concerning individual genetic profile increasing the area of personal freedom, but also posing the risk of false (positive and negative) or misinterpreted results along with health and psychological negative consequences. The paper discusses medical and non-medical applications of DTC, exploring also the legal framework implemented by European states and organizations. These legal acts strive to control the developing DTC market through such basic principles as patient protection, informed consent, medical information confidentiality, and the rights to know and to refuse knowledge about one's genetic predispositions.
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