Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment

Area of Science:

• Laboratory Medicine
• Genomic Sequencing
• Clinical Informatics

Background:

• Next-generation sequencing (NGS) is transforming laboratory medicine and patient care.
• NGS implementation introduces substantial bioinformatics and clinical informatics challenges.
• The integration of these disciplines fosters collaborative development of informatics solutions.

Purpose of the Study:

• To identify and discuss novel informatics challenges associated with NGS in pathology laboratories.
• To propose solutions and outline future developments for NGS informatics obstacles.

Main Methods:

• A comprehensive review of published literature on NGS informatics.
• Incorporation of expert experiences from molecular pathology, precision medicine, and pathology informatics.

Main Results:

• Thes study highlights the blurring lines between bioinformatics and clinical informatics due to NGS adoption.
• Effective management of NGS data in clinical labs is crucial for redefining medical practice.
• Smart computing technologies are essential for sustaining NGS advancements.

Conclusions:

• NGS integration necessitates robust, scalable, and secure informatics infrastructure.
• Computational pathologists are vital for leveraging Big Data and modern tools in diagnostics and theranostics.
• The future of medicine will be redefined by well-managed NGS data and advanced computing.