Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?

BMC Medicine

Mark Robson¹  Kimberly Blackwell³  Kathleen Harnden³  Debu Tripathy² 

[1] Weill Cornell Medical College, 1275 York Ave, New York 10065, NY, USA;University of Southern California, Keck School of Medicine, USC/Norris Comprehensive Cancer Center, 1441 Eastlake Avenue, NTT-3429, Los Angeles 90033, CA, USA;Duke Cancer Institute, Duke University Medical Center, 2301 Erwin Road, Durham 27710, NC, USA

关键词: Oncology;    Next-generation sequencing;    Breast cancer;   

Others  :  1123214
DOI  :  10.1186/s12916-014-0140-3

 received in 2014-07-28, accepted in 2014-07-28,  发布年份 2014

【 摘 要 】

Next generation sequencing (NGS) coupled with sophisticated bioinformatics tools yields an unprecedented amount of information regarding tumor genetics, with the potential to reveal insights into tumor behavior. NGS and other multiplex genomic assays are rapidly spilling from the laboratory into the clinic through numerous commercial and academic entities. This raises the important question as to whether we are ready to use these data in clinical decision-making. While genetic lesions are clearly targeted by a new generation of biological cancer therapies, and certain regulatory approvals are actually coupled to single gene assays, we still do not know if the vast information on other genomic alterations is worth the added cost, or even worse, the inappropriate and unproven assignment of patients to treatment with an unapproved drug carrying potentially serious side effects. On the other hand, the trend toward a precision medicine pathway is clearly accelerating, and clinical trials validating pathway-driven personalized cancer therapeutics will be necessary in both the community and academic settings. Lower cost and wider availability of NGS now raises a debate over the merit of routine tumor genome-wide analysis.

【 授权许可】

   
2014 Tripathy et al.; licensee BioMed Central Ltd.

【 图 表 】

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