Molecular digital pathology: progress and potential of exchanging molecular data

作者：Roy Somak^*; Pfeifer John D; LaFramboise William A; Pantanowitz Liron

来源：Expert Review of Molecular Diagnostics, 2016, 16(9): 941-947.

DOI：10.1080/14737159.2016.1206472

• Data
• informatics
• in silico testing
• next generation sequencing
• pipeline
• proficiency testing
• molecular
• telepathology

Many of the demands to perform next generation sequencing (NGS) in the clinical laboratory can be resolved using the principles of telepathology. Molecular telepathology can allow facilities to outsource all or a portion of their NGS operation such as cloud computing, bioinformatics pipelines, variant data management, and knowledge curation. Clinical pathology laboratories can electronically share diverse types of molecular data with reference laboratories, technology service providers, and/or regulatory agencies. Exchange of electronic molecular data allows laboratories to perform validation of rare diseases using foreign data, check the accuracy of their test results against benchmarks, and leverage in silico proficiency testing. This review covers the emerging subject of molecular telepathology, describes clinical use cases for the appropriate exchange of molecular data, and highlights key issues such as data integrity, interoperable formats for massive genomic datasets, security, malpractice and emerging regulations involved with this novel practice.

• 出版日期2016-9