What Genomic Diagnostics does

Genomic Diagnostics is an Australian genetic testing provider operating as a trading brand of Healius Pathology Pty Ltd, a wholly-owned subsidiary of Healius Ltd (ASX: HLS). Founded in 1992 and headquartered in Sydney with a laboratory in Heidelberg (Melbourne), the company offers a portfolio of non-invasive and invasive genetic tests across four clinical categories: reproductive health (NIPT, expanded carrier screening via Natera, fetal Rhesus D), oncology (a family of BRAoVO™ hereditary cancer panels plus solid tumour panels for thyroid, breast, gastrointestinal stromal tumours, and melanocytic lesions), pharmacogenomics (PGx Kit and PGx Collect covering 100+ medications), and cardiology (familial hypercholesterolaemia testing).

The company's core technology layer combines proprietary test menus (notably the BRAoVO™ panel brand) with third-party assay technology (Natera Horizon carrier screen) and AI-assisted pathologist interpretation. Sample collection is delivered through the Healius Pathology network of 2,000+ collection centres across Australia, supplemented by kit-based self-collection for selected tests. Integration with Australia's My Health Record is enabled for clinician-ordered tests, while self-referred purchases bypass this upload.

The business model is a hybrid direct-to-consumer and clinician-referred model. Tests are sold as one-time fee-per-test units priced from A$127.85 (Fetal Rhesus D) to A$1,299 (BRAoVO HBOC Specialist), with payment required via the e-commerce portal before testing. Patients can self-refer for certain tests (e.g., PGx) or be referred by a GP or specialist. A bundled telehealth offering with MedMate extends the PGx product into a fully integrated clinical service. Revenue is not separately disclosed; the business operates inside Healius Pathology's broader pathology operations.

Name

Genomic Diagnostics

Legal name

Healius Pathology Pty Ltd

Website

https://genomicdiagnostics.com.au

Company type

Private

Operating status

Operating

Headcount range

11–50 employees

Short description

Genomic Diagnostics is an Australian genetic testing provider offering reproductive, oncology, pharmacogenomics, and cardiology tests to patients and clinicians via a 2,000+ collection centre network and direct-to-consumer e-commerce, operating within Healius Pathology.

Ownership category

akta.pro rank

Product category

Clinical Genetic Diagnostic Services

NAICS

Medical Laboratories (621511), Medical and Diagnostic Laboratories (6215)

SIC

Services-Medical Laboratories (8071), In Vitro & In Vivo Diagnostic Substances (2835)

akta.pro primary industry

Molecular Diagnostics & Genomics Laboratories (HLAFAMAE)

akta.pro secondary industries

Genetic & Genomic Testing (germline, somatic, carrier, pharmacogenomics) (HLAAALAD), Prenatal, Newborn & Reproductive Diagnostics (NIPT, IVF/PGT, newborn screening) (HLAAALAJ), Genetic, Cytogenetic & Prenatal Screening IVD (HLAHAAAI)

Keywords

• Genetic diagnostic testing
• Hereditary cancer panels
• Prenatal genetic screening
• Pharmacogenomics testing
• Carrier screening services

Headquarters

HQ city

Sydney

HQ country

Australia

HQ region

Oceania

Offices3 records

Markets served

GTM type

B2B and B2C

Offering type

Services

Cost components

Personnel, Operations, Technology or R&D, Marketing or Sales, Infrastructure

Revenue model

1. Genetic Testing Services: One-time fee per genetic test performed. Tests are purchased via the e-commerce portal (pay.genomicdiagnostics.com.au) with payment required before processing. Fees are non-refundable once sample has been collected or testing has commenced. The company operates through the Healius Pathology collection network across 2,000+ locations nationally.

Pricing tiers

Go-to-market motion2 records

Distribution channels4 records

Marketing channels4 records

Core offering

Genomic Diagnostics is a clinical genetic testing laboratory that performs and sells consumer- and clinician-ordered genetic tests across reproductive health (NIPT, carrier screening, fetal Rhesus D screening), hereditary and somatic oncology (the proprietary BRAoVO™ hereditary cancer panel line plus solid tumour mutation panels), pharmacogenomics (PGx Kit and PGx Collect), and cardiology (familial hypercholesterolaemia testing). Tests are processed in its NATA-accredited laboratory, interpreted by specialist pathologists, and accessed either directly by patients via its e-commerce portal or through GP/specialist referrals across the Healius Pathology collection network.

Product overview

Genomic Diagnostics is an Australian genetic testing company offering a comprehensive portfolio of genetic diagnostic tests across multiple categories. The core offerings include reproductive health tests (NIPT, Genetic Carrier Screening, Fetal Rhesus D Screening), oncology testing (Hereditary Breast and Ovarian Cancer, Colorectal Cancer Syndromes, Pancreatic and Prostate Cancer, Comprehensive and Rare Tumour Cancer Panels, and Solid Tumour Testing including Thyroid, Breast, GIST, Melanocytic, and other specific panels), pharmacogenomics testing (PGx), and cardiology testing. The company operates through the Healius Pathology network with over 2,000 collection centres nationwide. Products are sold through both clinical referral (for healthcare providers) and direct-to-consumer e-commerce platforms. Notable branded sub-products include the BRAoVO™ series of hereditary cancer panels (Pan Cancer, Extended Gene, HBOC, ICC, and organ-specific panels) and the Natera Horizon Expanded Carrier Screen.

Differentiator

Problem solved

Functional benefit

Products and services

• NIPT (Non-Invasive Prenatal Testing) A safe maternal blood test that screens for chromosomal changes in a fetus without risk to the pregnancy, providing early, accurate information. Ordered by clinicians or self-referred and processed in the Genomic Diagnostics laboratory.
• Genetic Carrier Screening Screening for carriers of common and rare genetic conditions to help inform family planning decisions, offered as individual or couple's testing via the Natera Horizon Expanded Carrier Screen covering over 600 genetic conditions.
• Fetal Rhesus D Test Detection of fetal RHD gene fragments in maternal blood to predict fetal RhD status and guide decisions about prophylactic anti-D injections during pregnancy.
• Hereditary Breast and Ovarian Cancer (HBOC) Testing Detects inherited genetic changes (including BRCA1/BRCA2) that significantly increase the risk of developing breast, ovarian, and related cancers, helping to guide personalised screening and prevention.
• Inherited Colorectal Cancer Syndromes Testing Detects inherited genetic changes linked to 5–10% of colorectal cancers (including Lynch and polyposis syndromes), to guide screening and preventive care.
• Comprehensive Hereditary Cancer Panel Testing A broader genetic panel approach to understanding inherited cancer risk across multiple cancer types, implemented via the BRAoVO™ Pan Cancer Test and related panels.
• Rare Tumour Hereditary Cancer Panel Testing Targeted genetic panels (skin and nerve; kidney and endocrine; soft tissue and brain) to identify inherited genes that increase the risk of rare tumours and guide personalised care decisions.
• Solid Tumour Panel Tests Genetic panel testing for somatic mutations in solid tumours including thyroid, breast, gastrointestinal stromal tumours (GIST), and melanocytic tumours, supporting personalised oncology treatment decisions.
• Pharmacogenomics (PGx) Testing DNA testing to determine how quickly or slowly a patient metabolises over 100 medications — particularly mental health medications (antidepressants), opioids, NSAIDs, statins, and proton pump inhibitors — helping clinicians prescribe the right medication and dose the first time.
• Cardiology Genetic Testing Genetic testing to support the diagnosis and management of familial hypercholesterolaemia (FH) and other cardiology risks, enabling personalised cardiology care.

Quantifiable outcome

• Over 600 genetic conditions screened via Natera Horizon Expanded Carrier Screen
• +1 more outcomes

Named customers3 records

Segments5 records

Ideal customer profiles4 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration1 record

AI capability2 records

Feature5 records

Partnerships

Three partnerships are on record, tiered core.

• MedMatecoreStrategic or Co-development PartnerMedMate provides telehealth GP consultations as part of the PGx plus Telehealth bundle offered by Genomic Diagnostics. Genomic Diagnostics provides the PGx Home Swab Kit while MedMate clinicians provide two telehealth consultations and determine clinical appropriateness for the test referral. Test results are shared with MedMate clinicians for interpretation and follow-up care management.
• Healius Pathology Pty LtdcoreOthersGenomic Diagnostics is a trading name of Healius Pathology Pty Ltd. The company operates within the Healius Pathology network, which includes multiple pathology brands across Australia: Laverty Pathology (NSW/ACT), Dorevitch Pathology (VIC), QML Pathology (QLD), Abbott Pathology (SA), Western Diagnostic Pathology (WA/NT), and TML Pathology (TAS). The Genomic Diagnostics logo is a registered trademark of Healius Pathology Pty Ltd.
• NateracoreTechnology or IntegrationNatera provides the Horizon Expanded Carrier Screen tests used by Genomic Diagnostics for expanded carrier screening. The Horizon screen covers over 600 genetic conditions and is available as individual or couple's testing. Genomic Diagnostics offers these tests through its e-commerce platform.

Scale indicators4 records

Recent moves7 records

Expansion highlights7 records

Market position

Competitive moat5 records

Key highlights6 records

Customer concentration

• LinkedInlinkedin.com/company/genomic-diagnostics

Revenue estimate

Valuation estimate

Number of profiles

Profiles9 records

Funding overview

Funding rounds

Investors

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about Genomic Diagnostics