Prawne i etyczne uwarunkowania sekwencjonowania genomu noworodka

Abstract

Newborn Whole Genome Sequencing (WGS) continues to pose as a highly complex matter, challenging modern legislation and bioethics. More recently, the topic has gained prominence due to the technological revolution in the genomics industry, in addition to accessibility and greater affordability of WGS testing. The paper aims to assess the validity of nation-wide reimbursement of neonatal sequencing testing through the analysis of medical considerations, bioethical issues, legislative challenges and the current legal landscape of that area. The hypothesis presented was that the adoption of newborn genomic testing has far-reaching consequences in terms of the protection of patients’ rights. While the inclusion of whole-genome testing of newborns in the standard of medical care may bring about a revolution in the medical field, subsequently threaten the privacy and autonomy of the subjects and their relatives. The research demonstrated numerous advantages of routine neonatal genome sequencing and showcased the use of this method worldwide. It has also been found that the current legal regulations in Poland do not sufficiently safeguard the rights and freedoms of the minor. The law assumes a somewhat ‘successive’ role – it belatedly attempts to regulate the existing state of events caused by the rapid development of modern technologies and genomic discoveries. It is therefore vital to update and unify the legal regulation of whole-genome testing of minors within the framework of de lege ferenda postulates.

Keywords

• genome
• DNA
• Whole-Genome Sequencing (WGS)
• children’s rights
• bioethics of genetic research