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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Keeping up with the next generation: massively parallel sequencing in clinical diagnostics
John R ten Bosch1, Wayne W Grody
1Departments of Human Genetics, University of California at Los Angeles School of Medicine, Los Angeles, California, USA.
The Journal of Molecular Diagnostics : JMD
|October 4, 2008
Summary
Next-generation sequencing dramatically reduces costs, enabling widespread genetic analysis for disease diagnosis. Challenges remain in clinical adoption and interpreting novel variants, but impact in molecular medicine is imminent.
Area of Science:
- Genomics and Molecular Biology
- Medical Diagnostics
Background:
- Continuous improvements in DNA sequencing speed, accuracy, efficiency, and cost-effectiveness since the 1970s.
- Massively parallel sequencing technologies have significantly reduced DNA sequencing costs.
Purpose of the Study:
- To review technical issues and practical considerations for the widespread adoption of next-generation sequencing (NGS) in medical practice.
- To discuss the potential impact of NGS on molecular medicine and personal genome sequencing.
Main Methods:
- Review of advancements in DNA sequencing technologies, focusing on massively parallel sequencing.
- Discussion of technical challenges and clinical implementation hurdles for new sequencing platforms.
- Analysis of the implications of increased read lengths and novel variant ascertainment.
Main Results:
- Dramatically reduced costs enable sequencing of numerous genes for genetic and complex diseases.
- New platforms require molecular diagnosticians to gain confidence and experience.
- Increased identification of novel sequence variants of uncertain clinical significance presents post-analytical challenges.
Conclusions:
- Despite challenges, NGS is poised to significantly impact molecular medicine.
- Addressing technical and practical considerations is crucial for integrating personal genome sequencing into healthcare.
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