Value and risk of next generation sequencing in the diagnosis and treatment of cancer

doi:10.3969/j.issn.1673-8640.2017.04.001

Abstract

Abstract:

Sequencing technology has been developed from the 1st generation to the 4th one,and the length of reads is from long to short and from short to long again. Its progress has promoted the development of life science and clinical medical research. Next generation sequencing （NGS） technology has high flux,high accuracy and huge quantity of information. Different sequencing platforms have their own advantages in flux,length of reads,accuracy,speed and cost. They play important roles in de novo genome sequencing,resequencing,transcriptome and apparent genetics. In recent years,the datum output of NGS shows the trend of exponential growth,and has been gradually applied to clinical services,such as personalized medicine and genetic diagnosis. NGS in clinical oncology research and determination also shows a huge market value,but at the same time it hides certain degree of risk,which should be paid great attention and vigilance.

Key words: Next generation sequencing, Cancer

CLC Number:

R393

FAN Qishi, WU Beiying. Value and risk of next generation sequencing in the diagnosis and treatment of cancer[J]. Laboratory Medicine, 2017, 32(4): 245-249.

References 16

[1]	LEE J J,SHOLL L M,Lindeman N I,et al.Targeted next-generation sequencing reveals high frequency of mutations in epigenetic regulators across treatment-naive patient melanomas[J]. Clin Epigenetics,2015,7:59.
[2]	EKBLOM R,WOLF J B.A field guide to whole-genome sequencing,assembly and annotation[J]. Evol Appl,2014,7(9):1026-1042.
[3]	GRIEBEL T,ZACHER B,RIBECA P,et al.Modelling and simulating generic RNA-Seq experiments with the flux simulator[J]. Nucleic Acids Res,2012,40(20):10073-10083.
[4]	GAHL W A,MARKELLO T C,TORO C,et al.The national institutes of health undiagnosed diseases program:insights into rare diseases[J]. Genet Med,2012,14(1):51-59.
[5]	MA L,SHAN Y,BAI R,et al. A therapeutically targetable mechanism of BCR-ABL-independent imatinib resistance in chronic myeloid leukemia [J]. Sci Transl Med,2014,6(252):252ra121.
[6]	FOUNTZILAS G,GIANNOULATOU E,ALEXOPOULOU Z,et al.TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting[J]. Oncotarget,2016,7(22):32731-32753.
[7]	KOBAYASHI Y,MITSUDOMI T.Not all epidermal growth factor receptor mutations in lung cancer are created equal:perspectives for individualized treatment strategy[J]. Cancer Sci,2016,107(9):1179-1186.
[8]	XING M.Molecular pathogenesis and mechanisms of thyroid cancer[J]. Nat Rev Cancer,2013,13(3):184-199.
[9]	ROTHSCHILD S I.Targeted therapies in non-small cell lung cancer-beyond EGFR and ALK[J]. Cancers(Basel),2015,7(2):930-949.
[10]	AZIZ N,ZHAO Q,BRY L,et al.College of American Pathologists' laboratory standards for next-generation sequencing clinical tests[J]. Arch Pathol Lab Med,2015,139(4):481-493.
[11]	BENTLEY D R,BALASUBRAMANIAN S,SWERDLOW H P,et al.Accurate whole human genome sequencing using reversible terminator chemistry[J]. Nature,2008,456(7218):53-59.
[12]	LEY T J,MARDIS E R,DING L,et al.DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome[J]. Nature,2008,456(7218):66-72.
[13]	SARIN S,PRABHU S,O'MEARA M M,et al. Caenorhabditis elegans mutant allele identification by whole-genome sequencing[J]. Nat Methods,2008,5(10):865-867.
[14]	DRMANAC R,SPARKS A B,CALLOW M J,et al.Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays[J]. Science,2010,327(5961):78-81.
[15]	VALOUEV A,ICHIKAWA J,TONTHAT T,et al.A high-resolution,nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning[J]. Genome Res,2008,18(7):1051-1063.
[16]	LOMAN N J,MISRA R V,DALLMAN T J,et al.Performance comparison of benchtop high-throughput sequencing platforms[J]. Nat Biotechnol,2012,30(5):434-439.