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Updated: Aug 7, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Medicolegal and ethical concerns in genetic tests communication
Pierpaolo Di Lorenzo1, Mariagrazia Marisei1, Marco Macculi1
1Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
Objective:
Genetic information is a special category of personal data that is relevant for its predictive reach. The purpose of this paper is to provide an overview of the state of the art on the communication of genetic test results in both clinical and judicial practice in Europe.
Methods:
Starting from the research problem, legislation, policy documents and case law have been examined in order to combine legal, ethical, judicial and clinical aspects that shape the field of genetic test communication in Europe, with a specific focus on Italy.
Results:
Data suggesting the state-of the art of genetic results communication in clinical practice has been analysed and organized in thematic sections.
Conclusion:
A focus on consent and confidentiality is indicated by the numerous works that have emerged from the human genome project and the general ideas around predictive medicine. The real challenge consists in transforming the potential of genetic data from a personal, ultrapersonal dimension to a solidaristic one, which lies beyond the horizon of personalized and predictive medicine and uncovers a new dimension of universality. Therefore, health professionals' éxpertise in genetic test communication plays a key role in modern potentials of the information retained within tests.
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