Next-generation molecular diagnosis: single-cell sequencing from bench to bedside

Area of Science:

• Genomic Medicine
• Molecular Biology
• Biotechnology

Background:

• Single-cell sequencing (SCS) is a rapidly advancing field with significant potential in genomic medicine.
• It allows for high-resolution analysis of cellular heterogeneity and the molecular underpinnings of complex biological systems.
• SCS facilitates the discovery of novel biomarkers for disease diagnosis and therapeutic targeting.

Purpose of the Study:

• To provide an overview of the current advancements and future prospects of SCS in diagnostic applications.
• To highlight the role of SCS in pre-implantation genetic diagnosis/screening, non-invasive prenatal diagnosis, and circulating tumor cell analysis.
• To emphasize the potential of SCS in accelerating early and precise management of genetic and cancer-related diseases.

Main Methods:

• Review of current literature on single-cell sequencing technologies and their diagnostic applications.
• Analysis of studies focusing on pre-implantation genetic diagnosis/screening.
• Examination of research on non-invasive prenatal diagnosis using SCS.
• Investigation of SCS applications in circulating tumor cell analysis.

Main Results:

• SCS enables ultra-high resolution and sensitivity for detecting abnormalities like aneuploidy, chromosomal translocations, and single-gene disorders.
• Diagnostic applications of SCS are progressing rapidly in areas such as pre-implantation genetic screening and non-invasive prenatal testing.
• Analysis of circulating tumor cells using SCS shows promise for cancer detection and monitoring.

Conclusions:

• SCS is a transformative technology poised to advance genomic medicine through early and precise disease detection.
• Its applications in genetic diagnosis and cancer analysis will accelerate the control of germline- and somatic-mutation-based diseases.
• The high resolution and sensitivity of SCS are key to its expanding role in non-invasive diagnostics.