Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory

Expert Review of Molecular Diagnostics
Rashmi Kanagal-ShamannaRajyalakshmi Luthra

Abstract

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.

References

Apr 12, 2002·Genomics·Hester M WainSue Povey
Feb 16, 2008·Nature Protocols·Matthias MeyerMichael Hofreiter
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·C Sue RichardsUNKNOWN Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
Feb 28, 2009·Clinical Chemistry·Karl V VoelkerdingJacob D Durtschi
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Aug 5, 2009·Pharmacogenomics·Sarah R McWhinney, Howard L McLeod
Sep 23, 2009·Current Opinion in Oncology·Brunangelo FaliniMaria Paola Martelli
Apr 20, 2010·Genome Medicine·Raymond DalgleishDonna R Maglott
May 5, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Claire L GreenRosemary E Gale
May 19, 2010·Nature Reviews. Genetics·Elizabeth T Cirulli, David B Goldstein
Sep 25, 2010·The Journal of Molecular Diagnostics : JMD·Sivakumar GowrisankarBirgit H Funke
Nov 12, 2010·The New England Journal of Medicine·Timothy J LeyRichard K Wilson
Jan 20, 2011·Genome Research·Markus Hsi-Yang FritzEwan Birney
Feb 11, 2011·Nature·Elaine R Mardis
Mar 19, 2011·Leukemia·M J WalterT A Graubert
Apr 6, 2011·Expert Review of Molecular Diagnostics·Zhenqiang SuLeming Shi
Apr 12, 2011·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Jun ZhangGenfa Zhang
Jun 10, 2011·Bioinformatics·Petr DanecekUNKNOWN 1000 Genomes Project Analysis Group
Jun 15, 2011·The New England Journal of Medicine·Enrico TiacciBrunangelo Falini
Sep 13, 2011·Nature·Kenichi YoshidaSeishi Ogawa
Mar 16, 2012·The New England Journal of Medicine·Jay P PatelRoss L Levine
Apr 12, 2012·Blood·Ana Flávia Tibúrcio RibeiroRuud Delwel
Jul 20, 2012·Journal of Bioinformatics and Computational Biology·Irina AbnizovaTony Cox
Aug 31, 2012·The New England Journal of Medicine·Steven P TreonZachary R Hunter
Nov 10, 2012·Nature Biotechnology·Amy S GargisIra M Lubin
Apr 18, 2013·PLoS Computational Biology·Lauren M BraggGene W Tyson
May 3, 2013·The New England Journal of Medicine·UNKNOWN Cancer Genome Atlas Research NetworkGreg Eley
May 10, 2013·The New England Journal of Medicine·Julia E MaxsonJeffrey W Tyner
Jun 14, 2013·BMC Bioinformatics·Su Yeon Kim, Terence P Speed
Jun 22, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert C GreenUNKNOWN American College of Medical Genetics and Genomics
Jul 3, 2013·Methods : a Companion to Methods in Enzymology·Matthew P A DavisAnton J Enright
Jul 23, 2013·Blood Cancer Journal·E BraggioA K Stewart
Jul 28, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Heidi L RehmUNKNOWN Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee
Aug 9, 2013·Therapeutic Advances in Hematology·Eric M NickelsLucy A Godley
Sep 14, 2013·Blood·Elli PapaemmanuilUNKNOWN Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium
Oct 1, 2013·Genome Medicine·David L GoodeIan G Campbell

❮ Previous
Next ❯

Citations

Oct 25, 2016·The Journal of Molecular Diagnostics : JMD·Christopher L Corless
Mar 2, 2017·Blood·Guillermo Montalban-BravoMichael Andreeff
Feb 7, 2020·Blood Advances·Guillermo Montalban-BravoGuillermo Garcia-Manero
Mar 31, 2019·The Oncologist·Julia ThieraufJochen K Lennerz
Mar 1, 2020·American Journal of Hematology·Guillermo Montalban-BravoTapan M Kadia
Jun 27, 2019·Annals of Laboratory Medicine·Heyjin KimUNKNOWN Korean Society for Genetic Diagnostics Clinical Guidelines Committee
Apr 3, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Andrés E QuesadaRashmi Kanagal-Shamanna
Jan 16, 2021·Archives of Pathology & Laboratory Medicine·Bing M ZhangJason D Merker

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Clinical Advances in Hematology & Oncology : H&O
Richard D Press
Archives of Pathology & Laboratory Medicine
Mark D GustavsonJason Christiansen
Clinical Laboratory Science : Journal of the American Society for Medical Technology
Deborah Josko
© 2022 Meta ULC. All rights reserved