关键词: Analytical tools Artificial intelligence and machine learning Genomics Neonatal health Newborn screening (NBS) Next-generation sequencing (NGS)

Mesh : Artificial Intelligence Genetic Testing India Neonatal Screening / methods Quality Control

来  源:   DOI:10.1016/j.cca.2024.117881

Abstract:
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.
摘要:
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,巨大的差距和挑战依然存在。由于西孟加拉邦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长足的进步。这项工作强调了国家统计局计划面临的技术挑战,预算限制,咨询不足,疾病小组中的不平等,缺乏意识。技术的进步,比如基因检测和下一代测序,预计将显著改变这一过程。分析工具的整合,人工智能,机器学习算法可以提高新生儿筛查程序的效率,提供个性化的医疗保健方法。解决信息差距至关重要,疾病发病率不平等,预算限制,和不足的咨询。加强国家国家统计局计划需要提高公众意识以及国家和中央机构之间的协调努力。质量控制程序必须在每个级别使用,才能成功实施。其他研究努力通过公共教育提高印度的国家统计局,疾病筛查扩大,加强质量控制,政府激励实施,促进伙伴关系,和专家培训。改善新生儿健康结果和该计划在全国范围内的可行性将在很大程度上取决于新技术和咨询技术。
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