What is it about?
Diagnosing rare genetic disorders poses significant clinical challenges due to their low prevalence, variable phenotypes, and overlapping symptoms with more common conditions. Recent advances in molecular diagnostics have revolutionized the identification of these conditions, allowing for earlier and more accurate diagnoses. Techniques such as next-generation sequencing (NGS), whole-exome sequencing (WES), whole-genome sequencing (WGS), chromosomal microarray analysis (CMA), and targeted gene panels enable comprehensive analysis of genomic variants responsible for rare disorders. Additional tools like fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and quantitative PCR complement these high-throughput technologies by confirming structural variations or copy number changes. These diagnostic methods are crucial for timely clinical interventions, genetic counseling, and personalized therapeutic strategies.
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Why is it important?
Advanced genetic tools enable early and precise identification of rare disorders, reducing diagnostic delays. Facilitates targeted treatment, informed prognosis, and tailored genetic counseling for affected individuals and families. Encourages the adoption of cutting-edge technologies and multidisciplinary approaches in clinical genetics.
Perspectives
The advent of genomic technologies has dramatically improved our ability to diagnose rare genetic disorders, many of which previously remained undiagnosed or misdiagnosed for years. Whole-exome and whole-genome sequencing have emerged as powerful tools for uncovering novel and inherited mutations, especially in cases where traditional methods fail. The integration of bioinformatics, phenotype-driven databases, and functional validation tools further enhances the interpretation of variants of uncertain significance. However, challenges persist in terms of accessibility, cost, data interpretation, and ethical considerations. Collaborative efforts and global data-sharing initiatives are essential to bridge diagnostic gaps. The continuous evolution of diagnostic technologies holds promise for precision medicine, enabling tailored management for patients with rare genetic diseases and improving their long-term outcomes.
Dr.Ramakrishnan Veerabathiran
Chettinad Health City
Read the Original
This page is a summary of: Techniques for the Diagnosis of Rare Genetic Disorders, January 2024, Springer Science + Business Media,
DOI: 10.1007/978-981-99-9323-9_2.
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