Molecular digital pathology: progress and potential of exchanging molecular data

Area of Science:

• Clinical Pathology
• Genomic Medicine
• Telemedicine

Background:

• Increasing demands for next-generation sequencing (NGS) in clinical settings present operational challenges.
• Telepathology principles offer a framework to address these challenges by enabling remote access and collaboration.
• Molecular data sharing is crucial for advancing diagnostic capabilities and research in pathology.

Purpose of the Study:

• To review the emerging field of molecular telepathology and its applications in clinical laboratories.
• To describe clinical use cases for the electronic exchange of molecular data.
• To highlight key considerations and challenges associated with molecular telepathology implementation.

Main Methods:

• Review of current literature and emerging practices in molecular telepathology.
• Analysis of potential clinical use cases for electronic molecular data sharing.
• Identification of critical issues including data integrity, interoperability, security, and regulatory aspects.

Main Results:

• Molecular telepathology allows outsourcing of NGS operations (cloud computing, bioinformatics, data management).
• Electronic data sharing enables validation of rare diseases, benchmark accuracy checks, and in silico proficiency testing.
• Key challenges include ensuring data integrity, developing interoperable formats for large genomic datasets, and addressing security and malpractice concerns.

Conclusions:

• Molecular telepathology provides a viable solution for clinical laboratories to manage NGS demands through outsourcing and data sharing.
• The practice facilitates collaborative efforts, enhances diagnostic accuracy, and supports advanced genomic analyses.
• Addressing technical, security, and regulatory issues is essential for the successful adoption of molecular telepathology.