NEXT GENERATION SEQUENCING IN NEONATAL SCREENING: ADVANCES AND CHALLENGES IN THE EARLY IDENTIFICATION OF GENETIC DISORDERS

• DOI: https://doi.org/10.22533/at.ed.1595725210110

• Palavras-chave: next-generation sequencing, neonatal screening, genetics, public health.

• Keywords: next-generation sequencing, neonatal screening, genetics, public health.

• Abstract:

  Next-generation sequencing (NGS) represents a milestone in neonatal screening, allowing for greater diagnostic accuracy and broadening the spectrum of detectable genetic conditions . This study reviewed the advantages of NGS compared to traditional methods, highlighting its impact on the early detection of genetic and metabolic disorders, with the potential for earlier and more personalized clinical interventions. Twenty-five articles published between 2020 and 2024 on the PubMed database were selected. The results highlight that NGS reduces limitations such as false positives and late diagnosis, improving neonatal outcomes. However, challenges remain, including high costs, lack of infrastructure in low-income regions and ethical issues related to confidentiality and accessibility. The standardization of genetic panels and the training of professionals are essential to enable their widespread adoption. It is concluded that NGS offers an innovative approach to neonatal screening, with the potential to transform clinical practice and public health programs. Public policies and global collaborations are needed to democratize access and maximize the benefits of this technology.