TY - JOUR
T1 - Molecular digital pathology
T2 - progress and potential of exchanging molecular data
AU - Roy, Somak
AU - Pfeifer, John D.
AU - LaFramboise, William A.
AU - Pantanowitz, Liron
PY - 2016/9/1
Y1 - 2016/9/1
N2 - 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.
AB - 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.
KW - Data
KW - in silico testing
KW - informatics
KW - molecular
KW - next generation sequencing
KW - pipeline
KW - proficiency testing
KW - telepathology
UR - http://www.scopus.com/inward/record.url?scp=84980019062&partnerID=8YFLogxK
U2 - 10.1080/14737159.2016.1206472
DO - 10.1080/14737159.2016.1206472
M3 - Review article
C2 - 27471996
AN - SCOPUS:84980019062
VL - 16
SP - 941
EP - 947
JO - Expert Review of Molecular Diagnostics
JF - Expert Review of Molecular Diagnostics
SN - 1473-7159
IS - 9
ER -