Neonatal Screening: Some Ethical Issues of Expanding Spectrum for Genetically Determined Diseases

• Main Author: S. S. Deryabina
• Format: Article
• Language: English
• Published: "Paediatrician" Publishers LLC 2016-01-01
• Series: Voprosy Sovremennoj Pediatrii
• Subjects: neonatal screening; genetic testing; inherited diseases; prenatal diagnostics; volunteer activities to help the handicapped.
• Online Access: https://vsp.spr-journal.ru/jour/article/view/1563

The article considers philosophical questions of neonatal screening technology. The main focus is on ethical and methodological issues that inevitably arise when expanding the number of scanned nosologies and applying genetic research methods. Questions concerning the existing discrepancy between technical capacity and the practical level of healthcare delivery and the probabilistic nature of results obtained by molecular testing are analyzed in terms of methodology. Access to information about the DNA-testing of newborns and the linkage between neonatal screening and prenatal diagnostics are among the most topical ethical problems raised within this article. One of the purposes of this article is to draw the attention of the public — especially it concerns current and prospective parents and volunteer organizations — to these contemporary problems.