OVERVIEW

WHAT IS ForeSENTIA?

ForeSENTIA is a tumor profiling genetic test that can identify a spectrum of genetic alterations and genomic biomarkers, such as Microsatellite Instability (MSI) and Tumor Mutational Burden (TMB).

The information provided by ForeSENTIA can offer guidance on treatment decisions, prognostic value, and improved clinical management through precision medicine and targeted therapies.

WHY CHOOSE ForeSENTIA ?

● Option to test for clinically actionable genetic alterations, and immunotherapy biomarkers MSI and TMB in a single test
● Testing of thoroughly selected genetic alterations and biomarkers:
• Genes recommended by NCCN guidelines for solid tumors
• Genes that currently serve as selection criteria in active clinical trials
● Tumor-agnostic biomarkers
● Guidance on available targeted therapies, including immunotherapies. Tailored therapies can reduce the risk of ineffective therapy and adverse side effects, and avoid a ‘one-size-fits-all’ approach.

WHO IS ForeSENTIA FOR?

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Patients diagnosed with a
solid type of tumor and
require genetic test analysis for targeted therapy

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Patients with treatment resistance
who require alternative treatment options,
including immunotherapy

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Patients diagnosed with a
solid type of tumor and want to increase
the possibilities of identifying treatment options
by testing for immunotherapy biomarkers MSI and TMB

OUR TESTS

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Extended Tumor Profile Panels

Extended tumor profile panels target genetic alterations in an extended number of genes, and include testing for MSI via Next Generation Sequencing (NGS).

Genetic alterations tested include single nucleotide variants (SNVs), insertions and deletions (INDELs), copy number alterations (CNAs) and rearrangements.

Pan-Cancer Plus (222 genes)

ForeSENTIA Pan-Cancer Plus tests for all exonic regions* in an extended number of genes and includes immunotherapy biomarkers MSI and TMB assessment via NGS

*Exceptions on regions containing repeats, sequences of high homology (pseudogenes and segmental duplications) or high GC-content.

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Pan-Cancer (80 genes)

ForeSENTIA Pan-Cancer tests for an extended number of genes and includes immunotherapy biomarker MSI assessment via NGS.

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Cancer-Specific Tumor Profile Panels

Cancer-Specific tumor profile panels target specific genetic alterations in several genes, and can optionally include MSI assessment via NGS. Genetic alterations tested include single nucleotide variants (SNVs), insertions and deletions (INDELs), copy number alterations (CNAs) and rearrangements.

Breast/Gynecological (48 genes)

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Colorectal (34 genes)

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Glioma (22 genes)

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Lung (NSCLC) (36 genes)

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Prostate (36 genes)

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Melanoma (22 genes)

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Gene-Focused Panels

Gene-Focused panels target genetic alterations in one or two genes. Genetic alterations tested include single nucleotide variants (SNVs), insertions and deletions (INDELs).

Gene-Focused Panels

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GENETIC ALTERATIONS AND BIOMARKERS TESTED PER PANEL

TESTING OF GENETIC ALTERATIONS AND GENOMIC BIOMAKERS

POSSIBLE OUTCOMES OF THE TEST

The ForeSENTIA report will have information on the following:
• IMMUNOTHERAPY BIOMARKERS
MSI status and TMB score is reported, accompanied with the FDA/EMA-approved drugs which are eligible for the biomarker detected.

• GENOMIC FINDINGS
All the genetic variants (alterations) identified are reported. The results will also indicate which approved FDA/EMA targeted therapies are suitable as treatment options. Depending on the results identified, the report will also provide information on the drugs the patient will not benefit from.
Variants of strong and of potential clinical significance as well as variants of uncertain significance (VUS) are also reported.

• CLINICAL TRIALS
Information on clinical trials which are relevant to the genetic alterations identified.

• INTERPRETATION
The biological and therapeutical classification of results are reported in detail according to NCCN guidelines

Download Positive Report
Download Negative Report

WHAT CAN I DO AFTER ForeSENTIA?

Personalised targeted therapy and immunotherapy options which provide novel therapeutic avenues and can enhance clinical management and care.

Identify applicable clinical trials for patient enrolment

Expert medical genetic counselling and support is provided to help patients through their journey for cancer treatment.

HOW CAN I TAKE THE ForeSENTIA TEST?
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Recommend ForeSENTIA to your patient

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Let the histopathology lab know that additional testing will be required on the tissue biopsy sample

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The histopathology lab will send the tumor sections to Medicover Genetics

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The sample will be analyzed in our laboratory

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The results will be sent to you in 2-3 weeks

ACCEPTED MATERIAL

FFPE tissue sample from a biopsy

TURNAROUND TIME

2-3 weeks

TECHNOLOGY

gDNA is extracted using a standardized methodology and subjected to enzymatic fragmentation and DNA library preparation.
DNA enrichment for the genomic regions of interest is carried out using a solution-based hybridization method, followed by next generation sequencing (NGS). Single nucleotide variants, small insertions and deletions (≤50bp), and copy number variations (CNVs) are reported. All positive CNVs are confirmed using an orthogonal method. The test aims to detect all coding exons, of MANE and/or Canonical transcripts, and 10bp of adjacent intronic sequence.
Exceptions may include: regions containing repeats, sequences of high homology such as segmental duplications and pseudogenes, as well as regions of extreme GC-content.

Test Methodology
SEQUENCING

Next generation sequencing (Illumina)

ENRICHMENT

Proprietary Target Capture Enrichment Technology (Click here to see our Publications)

SNV AND CNV DATA ANALYSIS

Vardict variant caller, targeted CNV calling using a proprietary bioinformatics pipeline utilizing a circular binary segmentation algorithm. Rearrangement calling utilizing discordant pair and split-read alignments following local assembly, realignment, and a filtering pipeline to refine the set of candidate events.

DATA EVALUATION

Varsome Clinical by Saphetor

REFERENCE GENOME

hg19, NCBI GRCh37

QUALITY CRITERIA

≥Q30, 99.9% base call accuracy in >80% of the bases.

CLASSIFICATION OF VARIANTS

MM Li et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.J Mol Diagn. 2017 Jan;19(1):4-23.

IN SILICO ALGORITHMS

ALoFT, BayesDel, DEOGEN2, Eigen, Eigen-PC, FATHMM, FATHMM-XF, FATHMM-MKL, fitCons, LIST-S2, LRT, M-CAP, MetaLR, MetaRNN, MetaSVM, MPC, MutationAssessor, MutationTaster, MutPred, MVP, Polyphen-2, PrimateAI, PROVEAN, REVEL, SIFT, SIFT4G, dbscSNV

DATABASES

More than 100 databases including cancer somatic databases: COSMIC, ICGC, cbio portal, IARC TP53 somatic, Cancer hotspots, GDC, Fusion GDB. Somatic variant interpretaiton databases incuding: JAX CKB, PMKB, CIViC, OncoKB, DoCM. Drug-gene interaction databases including PharmGKB, FDA, DGI. CLinical trials database: AACT Clinical trials.

PAN-CANCER PLUS PANEL DETECTION ACCURACY

SENSITIVITY AND SPECIFICITY OF TESTED VARIANTS
SNVs

(VAF≥ 5%)
Sensitivity 100% (95% CI: 96-100%)
Specificity 100% (95% CI: 92-100%)

INDELS

(VAF≥ 10%)
Sensitivity 100% (95% CI :96-100%)
Specificity 100% (95% CI: 92-100%)

COPY NUMBER ALTERATIONS

≥4-fold (with tumor DNA purity >30%) or ≥6-fold (with tumor DNA purity at 20%)
Copy number deletions: Biallelic deletions (with tumor DNA purity>50%)
Sensitivity: 100% (95% CI: 79-100%)
Specificity: 100% (95% CI: 96-99.8%)

REARRANGEMENTS

(VAF≥20%)
Sensitivity:100% (95% CI :66-100%)
Specificity 100% (95% CI: 72-100%)

MSI

(VAF≥5%)
Sensitivity:100% (95% CI: 85-100%)
Specificity:100% (95% CI: 80-100%)

TMB

Correlation with WES: 0.84 (p-value: <0.0001)

PAN-CANCER and CANCER-SPECIFIC PANELS DETECTION ACCURACY

SENSITIVITY AND SPECIFICITY OF TESTED VARIANTS
SNVs

(VAF≥ 5%)
Sensitivity ≥97% (95% CI: 94.5-98.5%)
Specificity ≥99.96% (95% CI: 99.9-99.999%)

INDELS

(VAF≥ 10%)
Sensitivity ≥97% (95%CI :94.5-98.5%)
Specificity ≥99.96% (95%CI: 99.9-99.999%)

COPY NUMBER ALTERATIONS

≥4-fold (with tumor DNA purity >30%) or ≥6-fold (with tumor DNA purity at 20%)
Copy number deletions: Biallelic deletions (with tumor DNA purity>50%)
Sensitivity 100% (95%CI: 83.9-100%)
Specificity 100% (95%CI: 95.3-100%)

Rearrangements

(VAF≥20%)
Sensitivity: 100% (95% CI: 66-100%)
Specificity: 100% (95% CI: 72-100%)

MSI

(VAF≥5%)
Sensitivity: 100% (95% CI: 85-100%)
Specificity: 100% (95% CI: 80-100%)

SUPPORTING DOCUMENTS

DOCUMENTATION (click to download)
PAN-CANCER AND CANCER-SPECIFIC SPECIFICATIONS
PAN-CANCER PLUS SPECIFICATIONS
ForeSENTIA PANELS

OUR TESTS

ForeSENTIA BRAF PANEL

Genes: BRAF

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

Genes: AKT1, ATM, BARD1, BRAF, BRCA1, BRCA2, BRIP1, CHEK2, CTNNB1, DICER1, EGFR, ERBB2, ERBB3, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FOXA1, FOXL2, GATA3, KIT, KRAS, MAP3K1, MET, MLH1, MRE11A, MSH2, MSH6, MTOR, NBN, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAD51C, RAD51D, RAF1, RET, RUNX1, SMAD4, TP53

ForeSENTIA COLORECTAL PANEL

Genes: AKT1, APC, ATM, BRAF, BRCA1, BRCA2, CTNNB1, EGFR, ERBB2, FBXW7, FGFR1, FGFR2, FGFR3, GNAS, KRAS, MET, MLH1, MSH2, MSH6, MTOR, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PDGFRA, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAF1, SMAD4, TP53

ForeSENTIA EGFR PANEL

Genes: EGFR

ForeSENTIA GLIOMA PANEL

Genes: ATRX, BRAF, CDKN2A, CIC, CTNNB1, EGFR, FGFR3, FUBP1, H3F3A, IDH1, IDH2, MET, MYC, MYCN, NF1, NTRK1, NTRK2, NTRK3, POLE, PTEN, TERT, TP53, 1p/19q codeletion

ForeSENTIA IDH1 & IDH2 PANEL

Genes: IDH1, IDH2

ForeSENTIA KRAS & NRAS PANEL

Genes: KRAS, NRAS

ForeSENTIA LUNG (NSCLC) PANEL

Genes: AKT1, ALK, APC, ARAF, ATM, BRAF, BRCA2, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, JAK2, KEAP1, KRAS, MAP2K1, MET, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, POLE, PTEN, RAF1, RET, ROS1, SMAD4, STK11, TP53

ForeSENTIA MELANOMA PANEL

Genes: AKT1, ALK, BRAF, CTNNB1, ERBB2, GNA11, GNAQ, KIT, KRAS, MAP2K1, MYC, NF1, NRAS, NTRK1, NTRK2, NTRK3, PIK3CA, POLE, PTEN, RET, ROS1, TP53

ForeSENTIA PAN-CANCER PANEL

Genes: AKT1, ALK, APC, AR, ARAF, ATM, ATRX, BARD1, BRAF, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CIC, CTNNB1, DDR2, DICER1, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, FOXA1, FOXL2, FUBP1, GATA3, GNA11, GNAQ, GNAS, H3F3A, IDH1, IDH2, JAK2, KEAP1, KIT, KRAS, MAP2K1, MAP3K1, MET, MLH1, MRE11A, MSH2, MSH6, MTOR, MYC, MYCN, NBN, NF1, NPM1, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PDGFRA, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAD51C, RAD51D, RAF1, RB1, RET, ROS1, RUNX1, SMAD4, SPOP, STK11, TERT, TMPRSS2, TP53, 1p/19q codeletion* *1p/19q codeletion is reported only in the context of glioma diagnosis.

ForeSENTIA PAN-CANCER PLUS PANEL

Genes: ABL1, ABL2, AKT1, AKT2, ALK, ANKRD26, APC, AR, ARAF, ASXL1, ATM, ATRX, B2M, BAP1, BARD1, BCL2, BCL6, BCOR, BCORL1, BCR, BMPR1A, BRAF , BRCA1, BRCA2, BRIP1, CALR, CBFB, CBL, CBLB, CBLC, CCND1, CCND2, CCND3, CCNE1, CD274, CD74, CDC25C, CDH1, CDK12, CDK4, CDK6, CDKN2A, CEBPA, CHEK2, CIC, CSF1R, CSF3R, CTLA4, CTNNB1, CUX1, CXCR4, DCK, DDR2, DDX41, DEK, DHX15, DICER1, DNMT3A, DUSP22, EGFR, EIF1AX, EPCAM, ERBB2, ERBB3, ERBB4, ERCC4, ERG, ESR1, ETNK1, ETV1, ETV4, ETV6, EWSR1, EZH2, FANCA, FBXW7, FGF13, FGF19, FGF2, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FRS2, FUBP1, GATA1, GATA2, GATA3, GNA11, GNAQ, GNAS, H3F3A, HDAC2, HOXB13, HRAS, IDH1, IDH2, IKZF1, IL3, INHA, INSRR, IRF4, JAK1, JAK2, JAK3, KDM6A, KDR, KEAP1, KIT, KMT2A, KMT2C, KMT2D, KRAS, LUC7L2, MALT1, MAP2K1, MAP2K2, MAP3K1, MDM2, MECOM, MET, MITF, MLH1, MLLT3, MPL, MRE11, MSH2, MSH6, MTOR, MUTYH, MYC, MYCN, MYD88, MYH11, MYOD1, NBN, NCOA3, NF1, NF2, NFE2L2, NOTCH1, NPM1, NRAS, NRG1, NTRK1, NTRK2, NTRK3, NUP214, NUTM1, PALB2, PARP1, PBX1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PGR, PHF6, PIK3CA, PIK3CB, PIK3R1, PML, PMS2, POLD1, POLE, PPM1D, PPP2R1A, PTCH1, PTEN, PTPN11, RAD21, RAD51C, RAD51D, RAF1, RARA, RB1, RBBP6, RET, RNF43, ROS1, RPS14, RUNX1, RUNX1T1, SETBP1, SF3B1, SH2B3, SLC29A1, SMAD4, SMARCA4, SMARCB1, SMC1A, SMC3, SMO, SOX10, SPOP, SRSF2, STAG2, STAT3, STAT5B, STK11, SUZ12, TCF3, TCL1A, TERT, TET2, TMPRSS2, TP53, TSC1, TSC2, U2AF1, VEGFA, VHL, WT1, XPO1, ZRSR2, 1p/19q codeletion *1p/19q codeletion is reported only in the context of glioma diagnosis.

ForeSENTIA PIK3CA & AKT1 PANEL

Genes: PIK3CA, AKT1

ForeSENTIA PROSTATE PANEL

Genes: AKT1, APC, AR, ATM, BARD1, BRAF, BRCA1, BRCA2, CHEK2, CTNNB1, ERBB2, FGFR1, FGFR2, FGFR3, FOXA1, MLH1, MSH2, MSH6, MYC, MYCN, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAD51C, RAD51D, RB1, SPOP, TMPRSS2, TP53

OUR NETWORK