Table 3 Types of molecular analysis performed.

From: Factors that influence the uptake of precision-guided treatment recommendations in paediatric cancer: a systematic review

 

lcWGS (Somatic)

WES (Somatic)

DNA panel sequencing

RNA-seq

DNA methylation profiling

Germline WGS

Germline WES

Others

Church et al. [7]

  

Targeted DNA panel (OncoPanel)

mRNA-Seq; RNA

fusion panel

    

Parsons et al. [23]

   

mRNA-Seq

DNA methylation profiling

  

Other: IHC assays

van Tilburg et al. [25]

lcWGS (Somatic)

WES (Somatic)

 

mRNA-Seq

DNA methylation profiling

  

RNA based gene expression array

Villani et al. [26]

   

mRNA-Seq

 

Germline WGS

 

Other: pan-cancer DNA panel

Ortiz et al. [22]

 

WES (Somatic)

Targeted gene panel

     

Pincez et al. [24]

  

NGS DNA gene panel

    

Other: CGH

Mody et al. [20]

 

WES (Somatic)

 

mRNA-Seq

    

Marks et al. [19]

 

WES (Somatic)

DNA sequencing of 467

cancer associated genes

mRNA-Seq

  

Germline WES

 

Oberg et al. [21]

 

WES (Somatic)

 

mRNA-Seq

DNA methylation

profiling

 

Germline WES

 

George et al. [16]

  

circulating tumour DNA (ctDNA), Targeted NGS genetic panel

   

Germline WES

 

Harris et al. [27]

  

Targeted NGS (OncoPanel)

     

De Abreu Lourenco et al. [14]

       

Genomically guided approach,

no specific information given

McCullough et al. [28]

 

WES (Somatic)

    

Germline WES

 

Harttrampf et al. [17]

 

WES (Somatic)

 

mRNA-Seq

    

Eaton et al. [15]

     

Germline WGS

 

Functional ex vivo drug sensitivity testing

McCarthy [29]

       

Genomically guided approach,

no specific information given

Langenberg et al. [18]

lcWGS (Somatic)

WES (Somatic)

 

mRNA-Seq

DNA methylation

profiling

  

Affymetrix gene expression

Light grey = somatic

Dark Grey = germline

  1. This table depicts the sequencing test conducted by the included studies. lcWGS (Somatic), Low Coverage Whole Genome Sequencing. OncoPanel is a DNA hybrid capture-based NGS assay that detects single nucleotide variants (SNVs), insertions/deletions (indels) and copy number variants (CNVs) in cancer genes (V2: 300; V3: 447) and rearrangements in cancer genes (V2: 35; V3: 60). The OncoPanel cancer gene list was determined with input from many clinicians including paediatric oncologists and pathologists.
  2. WES whole exome sequencing, NGS next generation sequencing, mRNA-Seq mRNA-sequencing, Germline WGS germline whole genome sequencing, Germline WES germline whole exome sequencing, IHC immunohistochemistry, CGH comparative genomic hybridisation.