title: The clinical utility of molecular genetic cancer profiling.
abstract: Next-Generation-Sequencing (NGS) has enabled gene mutation profiling - cataloguing sequence variants and modifications in clinical assays encompassing tens to thousands of genes in tumors and in germlines. The clinical benefit of applying multi-gene NGS to diverse applications in various malignancies remains to be demonstrated.
  
  
  
  Applications of gene mutation profiling in oncology include screening cancer-prone families, classification of malignancies, treatment selection, and monitoring the response to treatment of solid tumors (the 'liquid biopsy'). Google Scholar was used to search PubMed for the period 2011-2016 using combinations of the following search terms: 'clinical utility', NGS, 'molecular diagnostics'. Expert commentary: Clinical studies are in progress pairing mutation profiling with streamlined new trial designs to speed identification of promising drug-target combinations and to see if genotype-informed treatment selection will improve outcome across a spectrum of histologies. The analytical advantages and falling cost of NGS make focused gene panels likely to become the dominant modality in molecular diagnostic testing even if trials eventually discourage use of large panels to test all malignancies.
authors.affiliation: a Department of Pathology, Beth Israel Deaconess Medical Center, Molecular Diagnostics Laboratory , Harvard Medical School , Boston , MA , USA.
authors.forename: Loren
authors.initials: L
authors.lastname: Joseph
mesh_terms: D014408:Biomarkers, Tumor; D003131:Combined Modality Therapy; D003362:Cost-Benefit Analysis; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D055088:Early Detection of Cancer / Q000379:methods / Q000592:standards; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D053842:Microsatellite Instability; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D011379:Prognosis; D015203:Reproducibility of Results; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor
keywords: Gene profiling; NGS; cancer; clinical trials; clinical utility; liquid biopsy; molecular diagnostics