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REVIEW
Pre-birth pharmacogenetics: personalized pharmacotherapy, the burden of knowledge and ethics of a parental decision
Yaroslavl State Medical University, Yaroslavl, Russia
Correspondence should be addressed: Svetlana M Demarina
Revolyutsionnaya St, 5, Yaroslavl, 150000, Russia; ur.xednay@msguhc
Author contribution: Demarina SM — literature selection and analysis; writing and editing the manuscript; Usolkin AA — literature selection and analysis; writing the manuscript; Balashova YD — literature selection and analysis; writing the manuscript; Tikhomirova SV — manuscript editing.
This review examines the ethical and legal implications of creating pharmacogenetic passports during the preconception (prior to conception) and prenatal (intrauterine) periods. The work is based on a methodological differentiation between the stages of genetic testing.. Preconception screening aims to assess carrier status in prospective parents and ensure their reproductive freedom, while prenatal testing provides fetus-related data, raising bioethical issues regarding the protection of interests and self-determination of the future child. The technologies of non-invasive prenatal testing (NIPT), preimplantation genetic testing (PGT), and prospects for intrauterine pharmacotherapy in severe congenital abnormalities are discussed. Special attention is given to ethical conflicts such as a conflict between the right to health and the right not to know, limits of parental proxy, and risk of genetic stigmatization. Normative approaches are suggested to address the identified ethical tensions (minimum intervention, clinical benefit, and deferred choice). The analysis of the Russian legislation and international instruments (Oviedo Convention, the GINA Act, the GDPR) yields recommendations for the healthcare system and legal regulation.
Keywords: personalized medicine, pharmacogenetics, bioethics, genetic discrimination, pharmacogenetic passport, prenatal testing, preconception screening, parental proxy, intrauterine pharmacotherapy