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Revolutionizing neonatal health: India's journey from assays to advanced genetics
1Department of Biotechnology, Delhi Technological University (DTU), Shahbad Daulatpur, Main Bawana Road, Delhi, 110042, India.
Insights
Early detection of inborn errors of metabolism (IEM) in Indian neonates is crucial. Advanced diagnostics like next-generation sequencing (NGS) and bioinformatics can significantly reduce infant mortality and the national health burden.
Area of Science:
- Medical Genetics
- Neonatal Medicine
- Bioinformatics
Background:
- India witnesses over 67,000 daily births, with neonates facing significant mortality risks within the first 28 days.
- Inborn errors of metabolism (IEM) are a major contributor to neonatal mortality, leading to diverse health outcomes.
- Current screening facilities and awareness are limited, highlighting a critical gap in early diagnosis and intervention.
Purpose of the Study:
- To discuss inborn errors of metabolism (IEM) and their impact on neonatal health in India.
- To review advancements in diagnostic methodologies for IEM, including next-generation sequencing (NGS).
- To advocate for a centralized, state-of-the-art screening initiative for treatable IEM across India.
Main Methods:
- Review of current literature on IEM diagnostics and screening programs.
- Explanation of next-generation sequencing (NGS) technology for genetic defect identification.
- Highlighting the role of computational biology and bioinformatics in analyzing genetic data.
Main Results:
- NGS and bioinformatics enable prompt and precise identification of metabolic defects.
- Case studies demonstrate successful gene and disorder discovery using NGS.
- Computational biology aids in understanding genetic variations and their clinical relevance.
Conclusions:
- Establishing a nationwide screening program for treatable IEM is essential to reduce infant mortality.
- Technological advancements like NGS and bioinformatics are pivotal for early and accurate diagnosis.
- Increased awareness and improved access to screening facilities are urgently needed in India.
Abstract:
According to UNICEF India, an estimated 67,385 neonates are born daily in India, each striving to survive the initial 28 days of life, which are pivotal in determining their future health prognosis. A significant number of these neonates succumb to inborn errors of metabolism (IEM), resulting in a spectrum of either manageable or severe clinical consequences. The evolution of techniques from basics to next-generation sequencing (NGS) and cutting-edge bioinformatics has enabled the prompt and precise identification of metabolic defects during the early stages of life. But the limited awareness, facilities, and access to the screening program necessitate the urgent need for establishing a state-of-the-art screening initiative all over India. The program holds the potential to substantially diminish infant mortality rates and alleviate the national health burden. This article delineates inborn errors of metabolism, investigates the advancements in diagnostic methodologies, outlines the NGS technique, underscores the role of computational biology, and advocates for the establishment of a centralized screening initiative in India specifically for treatable IEM. Furthermore, a few case studies have been included to showcase the notable discoveries of genes and associated disorders facilitated by NGS along with some studies highlighting the advantages of employing computational biology.
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