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Updated: Nov 12, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Ethical aspects pertaining to the use of pharmacogenetic tests
Bernice Azzopardi Meli1, Anthony G Fenech2, Maria Cordina2
1Department of Moral Theology, Faculty of Theology, University of Malta, Malta; Department of Clinical Pharmacology and Therapeutics, Faculty of Medicine and Surgery, University of Malta, Malta.
Abstract:
Administering medication safely and with confidence is important for both the patient and the prescriber. The individualised adjustment of a medicine dose, based solely on clinical outcomes or the change of a prescribed drug, possibly delays positive patient outcomes. This could lead to suboptimal patient management. Additionally, it could also have a negative pharmacoeconomic impact. The application of pharmacogenetics addresses this matter by refining and improving the safety and efficacy of medicines through a genotype-based prediction of responses. It also stratifies clinical trial populations in drug development in order to identify which patient genotypes benefit most from the drug under study. Although this emerging science presents a lot of prospects, it also raises a significant number of ethical questions. The problem with stratifying patient populations is addressed by promoting responsible and accountable scientific and intellectual liberty. This will avoid discrimination towards vulnerable populations. Therefore, there is a need to encourage informed consent and confidentiality, as well as to promote autonomy, justice, and equity by developing worldwide equivalent ethical, legal, and regulatory frameworks.
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