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Setting up next-generation sequencing in the medical laboratory
1Department of Medical Genomics, Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW, 2050, Australia, bing.yu@sydney.edu.au.
Methods in Molecular Biology (Clifton, N.J.)
|May 30, 2014
Summary
Next-generation sequencing (NGS) is successful in research and now needed for clinical diagnosis. Implementing NGS in medical labs faces infrastructure, platform, and informatics challenges, requiring robust quality assurance.
Area of Science:
- Genomics
- Medical Diagnostics
- Laboratory Medicine
Background:
- Next-generation sequencing (NGS) has demonstrated significant success in research applications over the past eight years.
- There is a growing demand to utilize NGS technologies for clinical diagnostic purposes.
Purpose of the Study:
- To address the challenges associated with translating NGS from research to clinical practice.
- To discuss the practical considerations for establishing NGS in a medical laboratory setting.
Main Methods:
- Discussion of practical issues including infrastructure requirements.
- Evaluation of NGS platform selection criteria.
- Analysis of informatics needs for clinical NGS.
Main Results:
- Identification of key challenges in clinical NGS implementation.
- Highlighting the necessity for robust quality assurance across all stages.
- Emphasis on the substantial requirements for data generation, analysis, and storage.
Conclusions:
- The successful application of NGS in clinical diagnosis necessitates careful planning regarding infrastructure, platform choice, and informatics.
- Robust quality assurance is critical at every step, from sample assessment to data storage.
- Significant resources and standardized protocols are required for clinical NGS implementation.
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