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- Title
A Review to Evaluate Synergies Between Genome Sequencing and Current Diagnostics for Innovative Approach to Congenital Anomaly Management in Indonesia.
- Authors
Pradipta, Ariel; Paramita, Isabela Andhika; Tjhin, Vincentius Vieri; Fauzan, Ihsan; Chen, David Virya
- Abstract
Next-Generation Sequencing (NGS) has experienced remarkable advancements, revolutionizing numerous domains in medicine. Among these, the detection and management of congenital anomalies have witnessed significant progress through the integration of NGS with current diagnostic methods. Through systematic evaluation of relevant articles, this review explores the challenges and opportunities associated with merging NGS with conventional diagnostic techniques in the context of congenital anomaly management. Special attention is given to the complexity of interpreting NGS results and the formulation of clinical guidelines to facilitate seamless integration within healthcare practices. Moreover, a thorough analysis of cost-effectiveness and practicality sheds light on the overall feasibility of implementing NGS in routine clinical settings. The findings indicate that precision healthcare for congenital anomalies requires addressing multifaceted challenges. While NGS demonstrates immense potential, its application in clinical settings necessitates standardized protocols and robust data interpretation. Nonetheless, by addressing these challenges, the full potential of NGS can be harnessed to facilitate the management of congenital anomalies with greater efficacy. In conclusion, the diversity and intricacy of congenital anomalies call for an individualized and tailored approach. Leveraging Whole Exome Sequencing (WES) as a targeted analysis, complemented by genetic counseling and confirmatory tests, offers a promising pathway to holistic congenital anomaly management. Integrating NGS with current diagnostics can pave the way for precision healthcare, empowering clinicians to optimize treatment strategies and enhance patient outcomes. Embracing this innovative approach will undoubtedly shape the future of congenital anomaly management, leading to improved patient care and a deeper understanding of these intricate conditions.
- Subjects
NUCLEOTIDE sequencing; WHOLE genome sequencing; GENETIC counseling; HUMAN abnormalities; CONGENITAL disorders
- Publication
Malaysian Journal of Medicine & Health Sciences, 2024, Vol 20, p98
- ISSN
1675-8544
- Publication type
Article
- DOI
10.47836/mjmhs.20.s6.21