VERUM - Oncological Biome for Early Cancer Detection

Description

Oncological Biome for Early Cancer Detection

VERUM is a revolutionary test that combines the analysis of genetic predisposition to cancer with the detection of circulating tumor DNA, enabling the identification of cancers at such early stages that they can hardly be detected by other conventional tests.

Germline Analysis

Assessment of more than 100 genes for hereditary cancer predisposition.

• BRCA1 and BRCA2 genes
• Lynch syndrome (MLH1, MSH2, MSH6, PMS2)
• DNA repair genes
• Oncogenes and tumor suppressor genes
• Known pathogenic variants

Circulating Tumor DNA (ctDNA)

Detection of tumor DNA fragments released into the bloodstream.

• Somatic tumor mutations
• Resistance biomarkers
• Molecular tumor burden
• Response monitoring
• Detection of minimal residual disease

Genes Analyzed (Main Selection)

Tumor Suppressors

• APC
• BRCA1/BRCA2
• TP53
• RB1
• CDKN2A

Oncogenes

• KRAS
• EGFR
• MYC
• HER2
• PIK3CA

DNA Repair

• MLH1/MSH2
• MSH6/PMS2
• ATM
• PALB2
• CHEK2

Gene Fusions

• BCR/ABL
• ALK/NPM
• AML1/MTG8
• E2A/PBX1
• DEK/NUP214

Advantages of the Oncological Biome

Early Detection

• Pre-symptomatic identification
• Early stages (I-II)
• Continuous monitoring
• Post-treatment follow-up

Non-Invasive Procedure

• Simple blood draw
• No discomfort for the patient
• Frequently repeatable
• Universal access

Technology

Nanopore NGS Technology for the Oncological Biome

We use Nanopore NGS technology optimized for the analysis of circulating tumor DNA, providing long reads and high sensitivity to detect mutations at extremely low concentrations.

Ultra-high Sensitivity

• Detection limit: 0.01% allele frequency
• Minimum ctDNA: 0.1 ng/ml of plasma
• Specificity: >99.9%
• Sensitivity: >95% for tumors >1cm
• Reproducibility: CV <5%

Oncological Pipeline

• Preparation: Optimized cfDNA extraction
• Enrichment: Targeted capture of targets
• Sequencing: GridION/PromethION
• Analysis: ctDNA detection algorithms
• Validation: Confirmation by ddPCR

Advanced Bioinformatic Analysis

Variant Detection

• SNVs and INDELs
• Copy number variations
• Gene fusions
• Structural rearrangements

Filtering and Annotation

• COSMIC databases
• ClinVar pathogenicity
• OncoKB actionability
• Strict quality filters

Machine Learning

• Tumor/normal classification
• Prediction of tissue of origin
• Malignancy score
• Progression risk

Quality Control and Validation

Rigorous quality controls at each stage:

• Positive and negative controls in each run
• Cross-validation with orthogonal methods (ddPCR, qPCR)
• Participation in external evaluation programs
• ISO 15189 certification for clinical laboratory
• Complete traceability of samples and results

Sample

Sample Collection Protocol

The quality of the blood sample is critical to the success of the oncological biome analysis. We follow strict protocols to preserve the integrity of circulating tumor DNA.

Blood Draw

• Volume: 20 ml of venous blood
• Tubes: Streck Cell-Free DNA BCT
• Amount: 2 tubes of 10 ml
• Anticoagulant: Specific EDTA
• Fasting: Not required

Storage and Transport

• Temperature: Room temperature
• Stability: 7 days post-draw
• Transport: Specialized courier
• Processing: <24 hours of receipt
• Traceability: Unique QR code

Plasma Processing

Plasma Separation

• Centrifugation at 1,600g × 10 min
• Careful transfer of the plasma
• Second centrifugation 16,000g × 10 min
• Aliquots of cell-free plasma
• Immediate freezing at -80°C

cfDNA Extraction

• QIAamp Circulating Nucleic Acid Kit
• Input volume: 4-5 ml plasma
• Quantification by Qubit dsDNA HS
• Integrity analysis by Bioanalyzer
• Quality control by qPCR

Critical Considerations

• Avoid hemolysis during the draw
• Do not shake the tubes vigorously
• Process within 6 hours if possible
• Report current oncological medication
• Avoid drawing during active chemotherapy
• Coordinate with the oncology team

Collection Kit Includes

• 2 Streck Cell-Free DNA BCT tubes (10 ml each)
• Detailed draw instructions
• Identification labels with QR code
• Specialized clinical form
• Packaging material for transport
• Courier service included

Results

Comprehensive Oncological Report

Our report provides a complete assessment of oncological risk with predictive analysis, specialized clinical interpretation and personalized follow-up recommendations.

Germline Analysis

• Pathogenic variants detected
• Hereditary risk by gene
• Estimated penetrance
• Genetic counseling

ctDNA Detected

• Somatic mutations
• Molecular tumor burden
• Predicted tissue of origin
• Estimated stage

Risk Stratification

• Integrated risk score
• Probability of malignancy
• Estimated time to progression
• Screening recommendations

Interpretation by Cancer Type

Most Frequent Cancers

Colorectal cancer APC, KRAS

Breast cancer BRCA1/2, TP53

Lung cancer EGFR, KRAS

Prostate cancer AR, PTEN

Hematological Cancers

Myeloid leukemia BCR/ABL

Lymphoma BCL-2, MYC

Lymphoblastic leukemia E2A/PBX1

Multiple myeloma MYC, RAS

Therapeutic Actionability

• Targeted therapies: Specific inhibitors
• Immunotherapy: Predictive biomarkers
• Chemotherapy: Sensitivity/resistance
• Clinical trials: Trial eligibility
• Precision medicine: Optimal combinations

Personalized Follow-up

• Monitoring: Recommended frequency
• Biomarkers: Parameters to track
• Imaging: Complementary techniques
• Schedule: Personalized calendar
• Alerts: Progression criteria

Specialized Oncological Interpretation

Each report includes:

• Assessment of personalized oncological risk
• Correlation with clinical and family history
• Specific screening recommendations
• Primary and secondary prevention strategies
• Genetic counseling for relatives
• Coordination with the multidisciplinary oncology team

Clinical indications

Clinical Indications for VERUM

Early Detection

• Asymptomatic individuals at high risk
• Family history of cancer
• Carriers of pathogenic variants
• Exposure to known carcinogens
• Cancer predisposition syndromes
• Precision population screening
• Preventive medicine programs

Active Monitoring

• Post-treatment oncological follow-up
• Detection of minimal residual disease
• Monitoring of therapeutic response
• Identification of emerging resistances
• Surveillance of second primaries
• Control of pre-malignant lesions
• Follow-up of complete remission

Genetic Counseling

• Assessment of hereditary risk
• Informed family planning
• Identification of at-risk relatives
• Reproductive counseling
• Prophylactic surgery decisions
• Risk reduction strategies
• Psycho-oncological counseling

Precision Medicine

• Selection of targeted therapies
• Prediction of response to immunotherapy
• Identification of biomarkers
• Stratification for clinical trials
• Optimization of therapeutic combinations
• Prevention of toxicities
• Personalized medicine

Specific Populations

High Genetic Risk

• Lynch syndrome
• BRCA1/BRCA2 syndrome
• Familial adenomatous polyposis
• Li-Fraumeni syndrome
• Cowden syndrome

Acquired Risk Factors

• Occupational exposure
• Prior ionizing radiation
• Prior chemotherapy
• Chronic immunosuppression
• Oncogenic infections

Recommended Analysis Frequency

Initial Screening

• First baseline assessment
• Individuals >40 years
• Positive family history

Regular Follow-up

• Every 6-12 months
• According to stratified risk
• Post-treatment

Intensive Monitoring

• Every 3-6 months
• Prior positive ctDNA
• During active treatment

Clinical Advantages of VERUM

For the Patient

• Early detection when treatment is most effective
• Non-invasive and comfortable procedure
• Reduced anxiety from uncertainty
• Empowerment in health decisions

For the Clinician

• Objective information for decision-making
• Accurate risk stratification
• Optimization of follow-up resources
• Evidence-based preventive medicine