TY - JOUR
T1 - Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory
AU - Kanagal-Shamanna, Rashmi
AU - Singh, Rajesh R.
AU - Routbort, Mark J.
AU - Patel, Keyur P.
AU - Medeiros, L. Jeffrey
AU - Luthra, Rajyalakshmi
N1 - Publisher Copyright:
© 2016 Taylor & Francis.
PY - 2016/4/2
Y1 - 2016/4/2
N2 - Targeted therapy based on mutational profiles is the current standard of practice for the management of patients with hematologic malignancies. Next-generation sequencing (NGS)- based analysis has been adopted by clinical laboratories for high-throughput mutational profiling of myeloid and lymphoid neoplasms. The technology is fairly novel and complex, hence both validation and test implementation in a CLIA-certified laboratory differ substantially from traditional sequencing platforms. Recently, organizations such as the American College of Medical Genetics, Centers for Disease Control and Prevention and College of American Pathologists have published principles and guidelines for NGS test development to ensure standardization of testing across institutions. Summarized here are the recommendations from these organizations as they pertain to targeted NGS-based testing of hematologic malignancies (liquid tumors), with particular emphasis on myeloid neoplasms.
AB - Targeted therapy based on mutational profiles is the current standard of practice for the management of patients with hematologic malignancies. Next-generation sequencing (NGS)- based analysis has been adopted by clinical laboratories for high-throughput mutational profiling of myeloid and lymphoid neoplasms. The technology is fairly novel and complex, hence both validation and test implementation in a CLIA-certified laboratory differ substantially from traditional sequencing platforms. Recently, organizations such as the American College of Medical Genetics, Centers for Disease Control and Prevention and College of American Pathologists have published principles and guidelines for NGS test development to ensure standardization of testing across institutions. Summarized here are the recommendations from these organizations as they pertain to targeted NGS-based testing of hematologic malignancies (liquid tumors), with particular emphasis on myeloid neoplasms.
KW - clinical laboratory
KW - hematologic malignancies
KW - mutation
KW - next-generation sequencing
KW - validation
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U2 - 10.1586/14737159.2016.1142374
DO - 10.1586/14737159.2016.1142374
M3 - Review article
C2 - 26765348
AN - SCOPUS:84958051301
SN - 1473-7159
VL - 16
SP - 461
EP - 472
JO - Expert Review of Molecular Diagnostics
JF - Expert Review of Molecular Diagnostics
IS - 4
ER -