Shrimati Kashibai Navale Medical College and General Hospital, Narhe, Pune 411041, Maharashtra, India.
Department of Physiology (UG & PG), Serampore College, 9 William Carey Road, Serampore, Hooghly 712201, West Bengal, India.
Clin Chim Acta. 2024 Apr 15;557:117881. doi: 10.1016/j.cca.2024.117881. Epub 2024 Mar 21.
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.
在印度,新生儿筛查(NBS)对于检测婴儿的健康问题至关重要。尽管取得了重大进展,但仍存在重大差距和挑战。由于西孟加拉邦的国家生物医学基因组学研究所的存在,印度在基因组学方面取得了巨大进展。这项工作强调了 NBS 计划在技术、预算限制、咨询不足、疾病面板不平等以及缺乏意识方面面临的挑战。技术的进步,如基因检测和下一代测序,预计将极大地改变这一过程。分析工具、人工智能和机器学习算法的整合可以提高新生儿筛查计划的效率,提供个性化的医疗保健方法。解决信息差距、疾病发病率的不平等、预算限制和咨询不足至关重要。加强国家 NBS 计划需要提高公众意识,并加强州和中央机构之间的协调努力。为了成功实施,必须在各个层面使用质量控制程序。额外的研究旨在通过公众教育、疾病筛查扩展、加强质量控制、实施政府激励措施、促进伙伴关系以及专家培训来加强印度的 NBS。新的技术和咨询技术将极大地依赖于新的技术和咨询技术,从而改善新生儿的健康结果和全国范围内的计划可行性。