Improving newborn screening in India: Disease gaps and quality control

• Published in: Clinica chimica acta Vol. 557; p. 117881
• Main Authors: Panchbudhe, Sanjyoti A., Shivkar, Rajni R., Banerjee, Arnab, Deshmukh, Paulami, Maji, Bithin Kumar, Kadam, Charushila Y.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.04.2024
• Subjects: Analytical tools; Artificial Intelligence; Artificial intelligence and machine learning; Genetic Testing; Genomics; Humans; India; Infant; Infant, Newborn; Neonatal health; Neonatal Screening - methods; Newborn screening (NBS); Next-generation sequencing (NGS); Quality Control; India; Neonatal health; Newborn screening (NBS); Genomics; Next-generation sequencing (NGS); Analytical tools; Artificial intelligence and machine learning
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/j.cca.2024.117881

[Display omitted] •Technological advancements in neonatal screening.•Establishment of the genomic and proteomic program.•The future potential of AI in these kinds of screening techniques.•Implications of neonatal screening: challenges.•Enhancement of neonatal screening quality control. In India, newborn screening (NBS) is essential for detecting health problems in infants. Despite significant progress, significant gaps and challenges persist. India has made great strides in genomics dueto the existence of the National Institute of Biomedical Genomics in West Bengal. The work emphasizes the challenges NBS programs confront with technology, budgetary constraints, insufficient counseling, inequality in illness panels, and a lack of awareness. Advancements in technology, such as genetic testing and next-generation sequencing, are expected to significantly transform the process. The integration of analytical tools, artificial intelligence, and machine learning algorithms could improve the efficiency of newborn screening programs, offering a personalized healthcare approach. It is critical to address gaps in information, inequities in illness incidence, budgetary restrictions, and inadequate counseling. Strengthening national NBS programs requires increased public awareness and coordinated efforts between state and central agencies. Quality control procedures must be used at every level for implementation to be successful. Additional studies endeavor to enhance NBS in India through public education, illness screening expansion, enhanced quality control, government incentive implementation, partnership promotion, and expert training. Improved neonatal health outcomes and the viability of the program across the country will depend heavily on new technology and counseling techniques.