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Precision Cancer Diagnostics

Australian Innovation,
Global Potential

Geneseq Biosciences designs, validates, and launches pioneering genomic cancer tests, distributed globally through licensing and partnerships.

The Science Our Portfolio About Melaseq™
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Patient samples tested
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Peer-reviewed publications
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International patent family
The Science

Detecting Cancer's First Signals

Cancer cells alter the profile of microRNA sequences circulating in the bloodstream, often before clinical symptoms emerge. Our diagnostic platform reads that molecular signal from a routine blood draw, beginning with Melaseq for melanoma, with additional cancer types to follow.

Explore the pipeline
01 — From Tumour to Blood

Cancer rewrites the circulating miRNA landscape

Tumour cells, immune cells, and the microenvironment all contribute to a distinctive circulating miRNA signature. Protected within extracellular vesicles and protein complexes, these molecules are exceptionally stable in plasma and reflect disease biology at a stage when other biomarkers may not yet be detectable.

Signature spans tumour, immune, and microenvironment biology
Stable in circulation within EVs and AGO2 complexes
Detectable earlier than cell-free DNA approaches
02 — Sample Collection

A routine blood draw

A single 10 mL EDTA blood draw is all that is required. Plasma is shipped to an accredited laboratory for processing under validated genomic protocols. A solid tissue (FFPE) pathway is also available.

Standard EDTA tube, routine phlebotomy
Compatible with existing pathology workflows
Suitable for screening and surveillance
03 — Sequencing

Next-generation small RNA sequencing

RNA is extracted from plasma and sequenced on Illumina platforms, generating millions of reads across the full miRNome. Every step is quality-controlled.

Optimised cell-free RNA extraction
UMI-tagged library preparation
Full miRNome coverage
04 — Analysis

Validated end-to-end analytical pipeline

Geneseq provides an end-to-end workflow integrating laboratory methods, quality control, miRNA signature analysis, and clinical reporting into a single locked pipeline. Reports are delivered in EMR-compatible formats.

End-to-end QC, sample receipt to report
Locked and reproducible analytical pipeline
EMR-compatible clinical reporting
05 — Clinical Result

A clear, clinically actionable report

Melaseq delivers a binary result: Class A (melanoma signal not identified) or Class B (melanoma signal identified), with a calibrated probability score and confidence interval as supporting metrics.

Class A: signal not identified, continue routine surveillance
Class B: signal identified, dermatological examination recommended
NATA-accredited, delivered to the referring clinician
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Diagnostics

Portfolio

NATA-accredited microRNA classifiers for melanoma detection and risk stratification.

NATA Accredited
Melaseq

Melaseq Solid Tissue Test

NATA-accredited microRNA classifier providing standardized, objective molecular assessment to complement histopathology in melanocytic lesion diagnosis.

93% Sensitivity
98% Specificity
NanoString or RNAseq
End-to-end QC pipeline
Clinical IVDFFPE
NATA Accredited
Melaseq

Melaseq Liquid Biopsy Test

World-first NATA-accredited melanoma blood test using microRNA profiling. Non-invasive molecular risk assessment for early detection, monitoring, and surveillance.

86% Sensitivity
98% Specificity
Standard blood collection
Validated & reproducible
Clinical IVDPlasma
AI Tool

PathologyReport.AI

Toolkit for transforming histopathology reports into prognostic assessments, including diagnostic ambiguity detection and strategic treatment summaries.

Upload text or PDF reports
Ambiguity detection
Tabular results output
AIPathology
In Development

Project META

Multi-indication diagnostic assay building on patented Melaseq technology. Scalable next-generation microRNA analysis platform for early cancer detection across multiple indications.

Multi-cancer detection
Next-gen microRNA platform
R&D
About Melaseq

From Discovery to Clinical Deployment

A decade of rigorous development, peer-reviewed validation, and regulatory achievement.

Discovery and Signature Development

Melaseq originated from multi-year research into the role of microRNAs in melanoma biology. Through systematic profiling of circulating and tissue-derived miRNAs across large patient cohorts, Geneseq identified a multi-gene signature, MEL38, capable of distinguishing melanoma from benign melanocytic lesions with high accuracy. The signature was designed to capture signal across three critical biological axes: tumour proliferation, immune modulation, and microenvironment remodelling.

BJC 2018
British Journal of Cancer
Development and validation of a plasma-based melanoma biomarker (MEL38)
2018
 PLOS ONE 2019
PLOS ONE
Characterisation and validation of Mel38; a multi-tissue microRNA signature of cutaneous melanoma
2019
 Melanoma Res 2019
Melanoma Research
A plasma microRNA biomarker of melanoma as a personalised assessment of treatment response
2019

Clinical Validation, Solid Tissue (FFPE)

The Melaseq Solid Tissue test was validated across independent patient cohorts using formalin-fixed paraffin-embedded (FFPE) specimens. Analytical and clinical validation studies demonstrated 93% sensitivity and 98% specificity for melanoma detection. The test provides an objective molecular assessment to complement histopathological review, addressing a recognised need for standardised second opinions in diagnostically ambiguous melanocytic lesions.

Biomarkers Med 2021
Biomarkers in Medicine
Translation of a circulating miRNA signature of melanoma to tissue
2021

Clinical Validation, Liquid Biopsy (Plasma)

Geneseq subsequently translated the MEL38 signature to plasma, creating the world's first blood-based melanoma diagnostic test. Validation across 828 plasma samples demonstrated 86% sensitivity and 98% specificity. The liquid biopsy format enables non-invasive screening, surveillance, and monitoring from a standard 10 mL EDTA blood draw, compatible with existing pathology collection workflows.

BJD 2023
British Journal of Dermatology
Validation of a microRNA liquid biopsy assay for diagnosis and risk stratification of invasive cutaneous melanoma
2023
 AACR 2023
AACR Annual Meeting
Liquid biopsy test for Australia's National Cancer, clinical validation poster
2023

NATA Accreditation and Commercial Launch

Both the Solid Tissue and Liquid Biopsy variants achieved accreditation from the National Association of Testing Authorities (NATA), the regulatory standard for clinical laboratory testing in Australia. Melaseq is commercially available through Australian Clinical Labs under a 10-year royalty agreement, making it the first NATA-accredited microRNA-based cancer diagnostic in the country.

Platform Transition to RNA Sequencing

Melaseq was originally developed on the NanoString nCounter platform. Geneseq has completed a full platform validation to next-generation RNA sequencing (Illumina), with cross-platform equivalence demonstrated across all clinical endpoints. This transition enables higher throughput, lower per-sample costs, and provides the analytical foundation for expanded multi-cancer applications.

BMC Med Genomics 2024
BMC Medical Genomics
RNA-seq validation of microRNA expression signatures for precision melanoma diagnosis and prognostic stratification
2024

Future: Prognostic Risk Stratification

The MEL12 prognostic signature, developed in parallel, stratifies early-stage melanoma patients by risk of disease progression. Integration of prognostic reporting into the Melaseq platform is planned, pending additional regulatory approvals. This will enable a single test to provide both diagnostic classification and risk assessment, informing surveillance intensity and treatment decisions.

Ordering and Availability

Available through Australian Clinical Labs

Melaseq Solid Tissue and Liquid Biopsy tests can be ordered by a referring clinician through Australian Clinical Labs. Standard pathology request forms accepted. Results are returned within the validated turnaround time.

Not yet available

Melaseq is not currently available in the United States. For partnership or licensing enquiries, please contact us.

Not yet available

Melaseq is currently available in Australia only. For international licensing or distribution enquiries, please contact us.

Publications

Peer-Reviewed Research

YearTitleJournal
2024RNA-seq validation of microRNA expression signatures for precision melanoma diagnosis and prognostic stratificationBMC Medical Genomics
2023Validation of a microRNA liquid biopsy assay for diagnosis and risk stratification of invasive cutaneous melanomaBritish Journal of Dermatology
2023Liquid biopsy test for Australia's National Cancer, clinical validation posterAACR Annual Meeting
2021Translation of a circulating miRNA signature of melanoma to tissueBiomarkers in Medicine
2019Characterisation and validation of Mel38; a multi-tissue microRNA signature of cutaneous melanomaPLOS ONE
2019A plasma microRNA biomarker of melanoma as a personalised assessment of treatment responseMelanoma Research
2018Circulating microRNA biomarkers in melanomaBiomolecules
2018Development and validation of a plasma-based melanoma biomarker (MEL38)British Journal of Cancer
Intellectual Property

Patent Portfolio

Family of patents protecting core microRNA diagnostic technology. Source: WO2019068139A1 and national phase entries.

AU
Australia
AU2018344761B2
Granted, 27 Feb 2025
JP
Japan
JP7354099B2
Granted, 2 Oct 2023
US
United States
US20200239967A1 / US20240110249A1
Granted, 1 Oct 2025
KR
South Korea
KR20200059293A
Pending
EU
Europe
EP3692175A1
Pending
CA
Canada
CA3077233A1
Pending
CN
China
CN111183235A
Pending
Partnerships

Licensing

Models

  • Territory license with tech transfer
  • Reference lab service with volume pricing
  • Co-development for local validation

What We Provide

  • Assay protocols and QC materials
  • Locked pipelines and reference distributions
  • Training and ongoing support
About

Melbourne-Based
Genomics Company

Geneseq Biosciences was founded by Dr Ryan Van Laar, PhD, who brings over 15 years of international experience spanning cancer genomics research, clinical assay development, and IVD commercialisation. Prior roles at Agendia, Regeneron, and Signal Genetics provided deep expertise in regulated diagnostic workflows including CLIA, CAP, and FDA pathways, which informed Geneseq's approach to building clinically deployable products from the ground up.

The company is supported by a multidisciplinary team with specialist capabilities in bioinformatics, laboratory science, regulatory affairs, and clinical operations. Geneseq combines rigorous analytical validation with scalable bioinformatics pipelines and regulatory know-how to translate microRNA research into NATA-accredited, clinically actionable diagnostic tests.

Geneseq Biosciences
Contact

Get in Touch

Reach out for partnership enquiries, licensing discussions, investor relations, or general information.

Melbourne, Victoria, Australia
info@geneseq.com.au