Review of clinical next-generation sequencing
S Yohe, B Thyagarajan - Archives of pathology & …, 2017 - meridian.allenpress.com
S Yohe, B Thyagarajan
Archives of pathology & laboratory medicine, 2017•meridian.allenpress.comContext.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for
many practicing pathologists, who may not be familiar with the uses, methodology, and
limitations of NGS. Objective.—To familiarize pathologists with several aspects of NGS,
including current and expanding uses; methodology including wet bench aspects,
bioinformatics, and interpretation; validation and proficiency; limitations; and issues related …
laboratories to test for inherited disorders and tumor mutations. This technology is new for
many practicing pathologists, who may not be familiar with the uses, methodology, and
limitations of NGS. Objective.—To familiarize pathologists with several aspects of NGS,
including current and expanding uses; methodology including wet bench aspects,
bioinformatics, and interpretation; validation and proficiency; limitations; and issues related …
Context
Next-generation sequencing (NGS) is a technology being used by many laboratories to test for inherited disorders and tumor mutations. This technology is new for many practicing pathologists, who may not be familiar with the uses, methodology, and limitations of NGS.
Objective
To familiarize pathologists with several aspects of NGS, including current and expanding uses; methodology including wet bench aspects, bioinformatics, and interpretation; validation and proficiency; limitations; and issues related to the integration of NGS data into patient care.
Data Sources
The review is based on peer-reviewed literature and personal experience using NGS in a clinical setting at a major academic center.
Conclusions
The clinical applications of NGS will increase as the technology, bioinformatics, and resources evolve to address the limitations and improve quality of results. The challenge for clinical laboratories is to ensure testing is clinically relevant, cost-effective, and can be integrated into clinical care.
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