From Chromosome Karyotyping to Genomic Precision: The Evolution of Diagnostic Technologies in Medicine

Run Liu

doi:10.54254/2753-8818/2025.AU26007

Theoretical and Natural ScienceOpen access

From Chromosome Karyotyping to Genomic Precision: The Evolution of Diagnostic Technologies in Medicine

Research Article

Open Access

From Chromosome Karyotyping to Genomic Precision: The Evolution of Diagnostic Technologies in Medicine

Run Liu ^1*

¹ Ulink College of Shanghai

^*Corresponding author: 18632720038@163.com

Published on 13 August 2025

TNS Vol.124

ISSN (Print): 2753-8826

ISSN (Online): 2753-8818

ISBN (Print): 978-1-80590-271-3

ISBN (Online): 978-1-80590-272-0

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Abstract

Chromosomal diagnostics have evolved significantly over the past several decades, from classical karyotyping to high-resolution genomic technologies. This review traces the development and integration of cytogenetic tools—karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and whole genome sequencing (WGS)—in modern clinical diagnostics. We examine each technology’s diagnostic utility, limitations, and role in clinical workflows. Importantly, insights from a practicing clinical cytogeneticist highlight the increasing automation of laboratory processes and the continued relevance of karyotyping in routine diagnostics due to its cost-effectiveness and structural resolution. As genome-wide testing becomes more accessible, we explore future directions including the rise of artificial intelligence (AI), non-invasive screening technologies, and emerging ethical challenges surrounding incidental findings, data privacy, and equitable access. Together, these perspectives underscore the importance of combining technological innovation with clinical expertise and ethical foresight to guide the future of precision diagnostics.

Keywords:

Chromosomal diagnostics, Karyotyping, Genomic Precision

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References

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References

Cite this article

Liu,R. (2025). From Chromosome Karyotyping to Genomic Precision: The Evolution of Diagnostic Technologies in Medicine. Theoretical and Natural Science,124,25-29.

Data availability

The datasets used and/or analyzed during the current study will be available from the authors upon reasonable request.

About volume

Volume title: Proceedings of ICBioMed 2025 Symposium: AI for Healthcare: Advanced Medical Data Analytics and Smart Rehabilitation

ISBN: 978-1-80590-271-3(Print) / 978-1-80590-272-0(Online)

Editor: Alan Wang

Conference website: https://2025.icbiomed.org/auckland.html

Conference date: 17 October 2025

Series: Theoretical and Natural Science

Volume number: Vol.124

ISSN: 2753-8818(Print) / 2753-8826(Online)

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