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Next Generation Sequencing: From Research Area to Clinical Practice.
Chiara Di Resta1,2, Maurizio Ferrari1,2,3
1Vita-Salute San Raffaele University, Milan, Italy.
EJIFCC
|November 28, 2018
Summary
High-throughput sequencing technologies are revolutionizing clinical medicine, offering significant advancements in diagnosing genetic disorders, cancers, and infectious diseases. These powerful tools provide unprecedented benefits for patient care, despite ongoing challenges.
Area of Science:
- Genomics and Bioinformatics
- Clinical Diagnostics
- Translational Medicine
Background:
- High-throughput sequencing (HTS) technologies have advanced significantly, moving from research to clinical applications.
- The potential of HTS in healthcare is recognized by researchers and clinicians alike.
- Current limitations exist but do not negate the value of HTS in medicine.
Purpose of the Study:
- To highlight the transition of high-throughput sequencing from research to clinical practice.
- To emphasize the broad clinical utility and benefits of HTS in patient care.
- To underscore the progress driven by HTS in various diagnostic fields.
Main Methods:
- Application of high-throughput sequencing in diverse clinical settings.
- Leveraging sequencing efficiency for diagnostic advancements.
- Addressing challenges in the clinical integration of HTS.
Main Results:
- Impressive progress in diagnosing common and rare genetic disorders.
- Successful applications in inherited cancer diagnostics and prenatal testing.
- Enhanced capabilities in identifying infectious diseases through sequencing.
Conclusions:
- High-throughput sequencing offers substantial benefits for patient medical care.
- The efficiency of HTS enables unprecedented progress in clinical diagnostics.
- Continued efforts are needed to overcome remaining challenges for full clinical integration.
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