Australia Monogenic Disease Testing Market (2025-2031) | Segmentation, Trends, Industry, Value, Outlook, Competitive Landscape, Growth, Analysis, Forecast, Size & Revenue, Share, Companies

Market Forecast By Test Type (Carrier Testing, Diagnostic Testing, New-Born Screening, Predictive and Pre-Symptomatic Testing, Prenatal Testing), By Disease Type (Cystic fibrosis, Sickle Cell Anemia, Severe Combined Immunodeficiency (SCID), Tay-Sachs Disorder, Polycystic Kidney Disorder, Others), By End use (Hospitals, Ambulatory Surgical Centers, Specialized Clinics) And Competitive Landscape
Product Code: ETC6185561 Publication Date: Sep 2024 Updated Date: Apr 2025 Product Type: Market Research Report
Publisher: 6Wresearch Author: Vasudha No. of Pages: 75 No. of Figures: 35 No. of Tables: 20

Australia Monogenic Disease Testing Market Overview

Genetic testing for monogenic diseases is expanding rapidly across Australia, supported by growing awareness among patients and clinicians, along with integration into prenatal and neonatal screening programs. Technological improvements in next-generation sequencing and bioinformatics have made these tests more accurate and accessible. Government initiatives to enhance genetic diagnostics and investments in precision medicine are also contributing to market growth, though privacy concerns and limited genetic counseling infrastructure remain barriers.

Trends of the market

In Australia, monogenic disease testing is experiencing rapid adoption, particularly in prenatal and neonatal care. The trend toward personalized medicine is leading to the widespread implementation of genetic screening for inherited disorders. With the National Health Genomics Policy supporting integration into clinical settings, diagnostic companies are scaling up high-throughput sequencing capabilities. Additionally, growing public awareness and better accessibility through online genetic testing services are accelerating market penetration.

Challenges of the market

In Australia, the monogenic disease testing market struggles with several obstacles, including limited awareness among healthcare providers and patients about the availability and utility of these tests. Testing for monogenic diseases often requires sophisticated genetic analysis, which may not be readily available in all regions of the country. The high costs associated with genetic testing and insufficient insurance coverage create further barriers to widespread adoption. Moreover, the ethical and privacy concerns related to genetic data handling continue to hinder the full-scale implementation of such testing services.

Investment opportunities in the Market

The monogenic disease testing market in Australia presents attractive investment prospects through digital health platforms, lab automation technologies, and next-generation sequencing services. Private equity and venture capital can find opportunities in companies offering prenatal and pediatric genetic screening, as well as firms developing AI-based interpretation tools. Collaborations with hospitals and public health authorities for widespread screening programs also present scalable investment models.

Government Policy of the market

In Australia, policies related to genetic testing are heavily regulated, particularly due to concerns around genetic privacy and ethical implications. The National Health and Medical Research Council (NHMRC) provides ethical guidelines for genetic testing, but there remains a lack of comprehensive regulation specifically for monogenic disease testing. The government`s role in funding genetic testing services through the PBS is currently limited, and only a few monogenic tests are covered, creating disparities in access. Additionally, government efforts to promote awareness about genetic disorders and testing are still in the early stages, and healthcare professionals may lack training in the latest testing options, which affects the widespread adoption of these services.

Key Highlights of the Report:

  • Australia Monogenic Disease Testing Market Outlook
  • Market Size of Australia Monogenic Disease Testing Market, 2024
  • Forecast of Australia Monogenic Disease Testing Market, 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Revenues & Volume for the Period 2021- 2031
  • Australia Monogenic Disease Testing Market Trend Evolution
  • Australia Monogenic Disease Testing Market Drivers and Challenges
  • Australia Monogenic Disease Testing Price Trends
  • Australia Monogenic Disease Testing Porter's Five Forces
  • Australia Monogenic Disease Testing Industry Life Cycle
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Test Type for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Carrier Testing for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Diagnostic Testing for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By New-Born Screening for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Predictive and Pre-Symptomatic Testing for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Prenatal Testing for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Disease Type for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Cystic fibrosis for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Sickle Cell Anemia for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Severe Combined Immunodeficiency (SCID) for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Tay-Sachs Disorder for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Polycystic Kidney Disorder for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Others for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By End use for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Hospitals for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Ambulatory Surgical Centers for the Period 2021- 2031
  • Historical Data and Forecast of Australia Monogenic Disease Testing Market Revenues & Volume By Specialized Clinics for the Period 2021- 2031
  • Australia Monogenic Disease Testing Import Export Trade Statistics
  • Market Opportunity Assessment By Test Type
  • Market Opportunity Assessment By Disease Type
  • Market Opportunity Assessment By End use
  • Australia Monogenic Disease Testing Top Companies Market Share
  • Australia Monogenic Disease Testing Competitive Benchmarking By Technical and Operational Parameters
  • Australia Monogenic Disease Testing Company Profiles
  • Australia Monogenic Disease Testing Key Strategic Recommendations

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1 Executive Summary

2 Introduction

2.1 Key Highlights of the Report

2.2 Report Description

2.3 Market Scope & Segmentation

2.4 Research Methodology

2.5 Assumptions

3 Australia Monogenic Disease Testing Market Overview

3.1 Australia Country Macro Economic Indicators

3.2 Australia Monogenic Disease Testing Market Revenues & Volume, 2021 & 2031F

3.3 Australia Monogenic Disease Testing Market - Industry Life Cycle

3.4 Australia Monogenic Disease Testing Market - Porter's Five Forces

3.5 Australia Monogenic Disease Testing Market Revenues & Volume Share, By Test Type, 2021 & 2031F

3.6 Australia Monogenic Disease Testing Market Revenues & Volume Share, By Disease Type, 2021 & 2031F

3.7 Australia Monogenic Disease Testing Market Revenues & Volume Share, By End use, 2021 & 2031F

4 Australia Monogenic Disease Testing Market Dynamics

4.1 Impact Analysis

4.2 Market Drivers

4.3 Market Restraints

5 Australia Monogenic Disease Testing Market Trends

6 Australia Monogenic Disease Testing Market, By Types

6.1 Australia Monogenic Disease Testing Market, By Test Type

6.1.1 Overview and Analysis

6.1.2 Australia Monogenic Disease Testing Market Revenues & Volume, By Test Type, 2021- 2031F

6.1.3 Australia Monogenic Disease Testing Market Revenues & Volume, By Carrier Testing, 2021- 2031F

6.1.4 Australia Monogenic Disease Testing Market Revenues & Volume, By Diagnostic Testing, 2021- 2031F

6.1.5 Australia Monogenic Disease Testing Market Revenues & Volume, By New-Born Screening, 2021- 2031F

6.1.6 Australia Monogenic Disease Testing Market Revenues & Volume, By Predictive and Pre-Symptomatic Testing, 2021- 2031F

6.1.7 Australia Monogenic Disease Testing Market Revenues & Volume, By Prenatal Testing, 2021- 2031F

6.2 Australia Monogenic Disease Testing Market, By Disease Type

6.2.1 Overview and Analysis

6.2.2 Australia Monogenic Disease Testing Market Revenues & Volume, By Cystic fibrosis, 2021- 2031F

6.2.3 Australia Monogenic Disease Testing Market Revenues & Volume, By Sickle Cell Anemia, 2021- 2031F

6.2.4 Australia Monogenic Disease Testing Market Revenues & Volume, By Severe Combined Immunodeficiency (SCID), 2021- 2031F

6.2.5 Australia Monogenic Disease Testing Market Revenues & Volume, By Tay-Sachs Disorder, 2021- 2031F

6.2.6 Australia Monogenic Disease Testing Market Revenues & Volume, By Polycystic Kidney Disorder, 2021- 2031F

6.2.7 Australia Monogenic Disease Testing Market Revenues & Volume, By Others, 2021- 2031F

6.3 Australia Monogenic Disease Testing Market, By End use

6.3.1 Overview and Analysis

6.3.2 Australia Monogenic Disease Testing Market Revenues & Volume, By Hospitals, 2021- 2031F

6.3.3 Australia Monogenic Disease Testing Market Revenues & Volume, By Ambulatory Surgical Centers, 2021- 2031F

6.3.4 Australia Monogenic Disease Testing Market Revenues & Volume, By Specialized Clinics, 2021- 2031F

7 Australia Monogenic Disease Testing Market Import-Export Trade Statistics

7.1 Australia Monogenic Disease Testing Market Export to Major Countries

7.2 Australia Monogenic Disease Testing Market Imports from Major Countries

8 Australia Monogenic Disease Testing Market Key Performance Indicators

9 Australia Monogenic Disease Testing Market - Opportunity Assessment

9.1 Australia Monogenic Disease Testing Market Opportunity Assessment, By Test Type, 2021 & 2031F

9.2 Australia Monogenic Disease Testing Market Opportunity Assessment, By Disease Type, 2021 & 2031F

9.3 Australia Monogenic Disease Testing Market Opportunity Assessment, By End use, 2021 & 2031F

10 Australia Monogenic Disease Testing Market - Competitive Landscape

10.1 Australia Monogenic Disease Testing Market Revenue Share, By Companies, 2024

10.2 Australia Monogenic Disease Testing Market Competitive Benchmarking, By Operating and Technical Parameters

11 Company Profiles

12 Recommendations

13 Disclaimer

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