Neonatal genetic testing and screening, medical-bioethical approach

Abstract

Neonatal genetic testing and screening have been the subject of intense debate due to their significant potential in the prevention and early treatment of genetic diseases. The bioethical complexity and medico-social implications of these practices have necessitated complex rigorous evaluation. Analysis of the medicalbioethical aspects of neonatal genetic testing and screening in the specialized literature to evaluate their benefits and challenges in medical practice. The study is based on the analysis of specialized literature, articles, as well as clinical case studies extracted from scientific and legislative databases such as PubMed, NCBI, Google Scholar, WHO. The investigation was carried out using a retrospective, descriptive analysis applying hermeneutic and comparative methods. The literature review highlighted a retrospective and descriptive study on a sample of 150 newborns genetically tested. It highlighted the fact that of the total cases analyzed, 82% allowed for early detection of genetic diseases. In the context of these data, the bioethical analysis highlighted challenges regarding informed consent and the confidentiality of genetic data, emphasizing ethical dilemmas related to the right of parents to choose, possible discrimination based on genetic data and challenges associated with the communication of genetic test results, with direct implications for clinical management and subsequent counseling. The results confirmed the initial hypothesis, indicating the clear clinical benefits of neonatal genetic testing and screening, as well as significant bioethical complexity. Guidelines for effective genetic counseling in the medico-bioethical context need to be developed and implemented.