Journal of Cancer Diagnosis
Open Access

Next-generation sequencing; NGS; Precision medicine; Genomic profiling; Genetic diagnosis; Cancer research; Microbiome; Pediatric cardiology; Infectious diseases; Noninvasive prenatal testing; Skeletal dysplasias; Hematological malignancies

Introduction

Next-generation sequencing (NGS) has emerged as a transformative technology in modern medicine and biological research, fundamentally reshaping our approach to diagnosis, treatment, and understanding of complex biological systems. This advanced sequencing capability allows for the rapid and comprehensive analysis of genetic material, moving beyond the limitations of previous methods to provide unprecedented detail and insight across a wide spectrum of applications. Specifically, NGS has revolutionized the diagnosis of skeletal dysplasias, offering a comprehensive and efficient approach to identifying the underlying genetic causes of these conditions. The technology enables simultaneous analysis of multiple genes, which significantly reduces diagnostic time and improves accuracy, particularly for rare and complex forms of bone disorders [1].

Beyond genetic disorders, advances in NGS technologies are profoundly enhancing our ability to study complex human microbiomes. These methods provide deeper insights into microbial diversity, composition, and functional roles, allowing researchers to move past traditional culture-based techniques. This capability translates into a more detailed understanding of how microbiome interactions affect human health and disease [2].

Whole-genome and NGS techniques are also transforming clinical microbiology and infectious disease diagnostics. These technologies facilitate the rapid and precise identification of pathogens, the characterization of antimicrobial resistance patterns, and the crucial tracking of disease outbreaks. Such detailed information is critical for effective patient management and for implementing robust public health interventions, ensuring faster, more accurate detection of illnesses and improved treatment strategies [3].

In pediatric cardiology, NGS is increasingly vital for diagnosing complex congenital heart diseases and cardiomyopathies. Its capacity to identify specific genetic mutations helps clinicians understand the precise etiology of these diseases, guides the development of tailored treatment strategies, and offers essential prognostic insights for young patients, thereby making a tangible difference in their care pathways [4].

As a cornerstone of precision medicine, NGS enables highly individualized patient care through comprehensive genomic profiling. This technology allows for the precise identification of specific biomarkers and genetic variations. These findings are instrumental in informing targeted therapies, predicting individual patient responses to drugs, and monitoring disease progression, truly personalizing treatment approaches to an unprecedented degree [5].

Furthermore, noninvasive prenatal testing (NIPT) that utilizes NGS offers a safe and remarkably accurate method for screening common chromosomal aneuploidies. This technology works by analyzing cell-free fetal DNA found in maternal blood, which reduces the need for more invasive procedures and provides crucial information about fetal health early in pregnancy, representing a significant breakthrough for expectant parents [6].

NGS also proves invaluable in understanding and treating pediatric hematological malignancies. By comprehensively characterizing genetic alterations in these conditions, it aids in accurate diagnosis, improves risk stratification, and assists in identifying specific therapeutic targets. Ultimately, this paves the way for more personalized and effective treatment strategies for children suffering from blood cancers [7].

The clinical application of NGS continues to evolve, consistently offering increasingly sophisticated tools for disease diagnosis, prognosis, and therapeutic guidance across a wide array of medical fields. Ongoing developments are keenly focused on enhancing data interpretation capabilities, improving accessibility for broader clinical use, and boosting cost-effectiveness to further integrate this powerful technology into routine healthcare practices [8].

Beyond diagnostics, NGS is significantly propelling cancer research forward by enabling detailed molecular profiling of tumors. This includes the identification of oncogenic mutations, gene fusions, and copy number variations—all of which are essential for developing novel targeted therapies, gaining a deeper understanding of resistance mechanisms, and improving both diagnostic and prognostic stratification. This truly changes the landscape of cancer treatment and research [9].

Finally, NGS provides a powerful tool for detecting gene mutations in patients with chronic lymphocytic leukemia (CLL), substantially improving diagnostic accuracy and guiding personalized treatment strategies. Systematic reviews confirm the robust capability of NGS to identify clinically relevant genomic alterations, which is absolutely crucial for effectively managing this complex hematologic malignancy [10].

Description

Next-generation sequencing (NGS) represents a profound technological leap in genetic analysis, offering capabilities that extend far beyond traditional sequencing methods. Its core strength lies in its ability to process massive amounts of DNA or RNA simultaneously, leading to a comprehensive understanding of genetic landscapes across various biological and clinical contexts. The impact of NGS is evident in its capacity to transform diagnostic pathways and therapeutic strategies by providing detailed molecular insights.

One of the most significant applications of NGS is in the diagnosis of genetic disorders. For instance, it has revolutionized the identification of underlying genetic causes in skeletal dysplasias. The simultaneous analysis of multiple genes dramatically reduces diagnostic time and enhances accuracy, especially for complex and rare forms of these bone disorders [1]. Similarly, in pediatric cardiology, NGS is crucial for diagnosing intricate congenital heart diseases and cardiomyopathies. By pinpointing genetic mutations, it helps clinicians understand disease origins, develop treatment plans, and offer prognostic information for young patients, thus improving their care [4]. The technology is also a game-changer for expectant parents through Noninvasive Prenatal Testing (NIPT), which uses NGS to safely and accurately screen for common chromosomal aneuploidies by analyzing cell-free fetal DNA from maternal blood, thereby minimizing the need for invasive procedures and providing early insights into fetal health [6].

The utility of NGS extends powerfully into infectious diseases and microbiology. Whole-genome and NGS techniques are rapidly transforming clinical microbiology by enabling swift and precise identification of pathogens, detailed characterization of antimicrobial resistance, and effective tracking of disease outbreaks. This provides critical information for patient care and public health initiatives, allowing for faster and more accurate detection and treatment [3]. Moreover, NGS technologies are crucial for studying complex human microbiomes. These methods offer deeper insights into microbial diversity, composition, and functional roles, moving beyond traditional culture-based approaches to deliver a detailed understanding of how microbiomes interact with human health and disease [2].

NGS has also become indispensable in oncology and hematology. In cancer research, it propels molecular profiling of tumors forward by identifying oncogenic mutations, gene fusions, and copy number variations. These findings are essential for developing targeted therapies, deciphering resistance mechanisms, and refining diagnostic and prognostic stratification, ultimately changing the landscape of cancer treatment [9]. For pediatric hematological malignancies, NGS is invaluable, as it comprehensively characterizes genetic alterations to aid in accurate diagnosis, risk stratification, and the identification of therapeutic targets, paving the way for personalized and more effective treatment strategies for children with blood cancers [7]. Furthermore, NGS is a powerful tool for detecting specific gene mutations in chronic lymphocytic leukemia (CLL) patients, significantly improving diagnostic accuracy and guiding personalized treatment strategies for this complex hematologic malignancy [10].

At its core, NGS serves as a cornerstone of precision medicine. It enables highly individualized patient care through comprehensive genomic profiling, allowing for the identification of specific biomarkers and genetic variations that inform targeted therapies, predict drug responses, and monitor disease progression. This truly personalizes treatment approaches to a degree previously unimaginable [5]. The widespread application of NGS in clinical practice is continually evolving, providing increasingly sophisticated tools for diagnosis, prognosis, and therapeutic guidance across diverse medical fields. There is an ongoing focus on improving data interpretation, increasing accessibility, and enhancing cost-effectiveness to ensure this powerful technology becomes even more integrated into routine healthcare [8].

Conclusion

Next-generation sequencing (NGS) is fundamentally changing diagnostics and research across numerous medical fields. This powerful technology offers a comprehensive and efficient way to identify genetic causes of conditions like skeletal dysplasias, significantly cutting down diagnostic time and boosting accuracy for rare and complex cases. NGS also provides deeper insights into human microbiomes, moving beyond older techniques to detail microbial diversity and roles in health and disease. It's revolutionizing clinical microbiology and infectious disease diagnostics by enabling rapid pathogen identification, resistance characterization, and outbreak tracking, leading to better patient management. In pediatric cardiology, NGS is vital for diagnosing congenital heart diseases and cardiomyopathies, helping clinicians understand disease origins and guide treatments for young patients. NGS stands as a cornerstone of precision medicine, facilitating individualized care through genomic profiling that pinpoints biomarkers, predicts drug responses, and monitors disease progression. For expectant parents, Noninvasive Prenatal Testing (NIPT) with NGS provides safe, accurate screening for chromosomal aneuploidies by analyzing cell-free fetal DNA, reducing the need for invasive procedures. In pediatric hematological malignancies, NGS helps diagnose, risk stratify, and identify therapeutic targets for children with blood cancers. NGS also drives cancer research by profiling tumors to find mutations, gene fusions, and copy number variations, which are key for developing targeted therapies and improving prognosis. Its application extends to detecting gene mutations in chronic lymphocytic leukemia (CLL) patients, enhancing diagnostic precision and personalizing treatment strategies. The ongoing evolution of NGS aims to improve data interpretation, accessibility, and cost-effectiveness, cementing its role in routine healthcare.

References

1. Bing Y, Cheng Z, Xing S (2023) Next-generation sequencing for genetic diagnosis of skeletal dysplasias: A review..J Clin Lab Anal 37:e24921.

   Indexed at, Google Scholar, Crossref

2. Ghada A, Hui L, Mohammed A (2022) Recent advances in next-generation sequencing approaches for studying human microbiomes..Comput Struct Biotechnol J 20:3014-3023.

   Indexed at, Google Scholar, Crossref

3. Arif B, Vivian S, Bambang T (2023) Whole-genome sequencing and next-generation sequencing: applications in clinical microbiology and infectious diseases..Front Cell Infect Microbiol 13:1118671.

   Indexed at, Google Scholar, Crossref

4. Michael Z, Angelo M, Bradley H (2022) The Expanding Role of Next-Generation Sequencing in Pediatric Cardiology..Children (Basel) 9:604.

   Indexed at, Google Scholar, Crossref

5. Angang H, Shun Z, Yongxiang W (2021) Next-generation sequencing (NGS) and its clinical application in precision medicine..Exp Hematol Oncol 10:47.

   Indexed at, Google Scholar, Crossref

6. Zhiyong X, Yajuan Y, Jie C (2021) Next-Generation Sequencing for Noninvasive Prenatal Testing: A Review..J Clin Lab Anal 35:e23846.

   Indexed at, Google Scholar, Crossref

7. Weijun H, Chunmei D, Zhijian L (2021) Next-generation sequencing technology in pediatric hematological malignancies..Onco Targets Ther 14:3881-3891.

   Indexed at, Google Scholar, Crossref

8. Krzysztof K, Serap A, Anna K (2020) Next-generation sequencing analysis in clinical practice: Current developments and future perspectives..J Clin Med 9:4068.

   Indexed at, Google Scholar, Crossref

9. Alfonso G, Fabio R, Alfonso R (2023) Advancements in Next-Generation Sequencing Technologies for Cancer Research..Int J Mol Sci 24:3689.

   Indexed at, Google Scholar, Crossref

10. Huan S, Meng W, Jing L (2020) Next-generation sequencing for gene mutation detection in patients with chronic lymphocytic leukemia: A systematic review and meta-analysis..PLoS One 15:e0238122.

    Indexed at, Google Scholar, Crossref