Product Code: ETC6189734 | Publication Date: Sep 2024 | Updated Date: May 2025 | Product Type: Market Research Report | |
Publisher: 6Wresearch | Author: Dhaval Chaurasia | No. of Pages: 75 | No. of Figures: 35 | No. of Tables: 20 |
The rare disease genetic testing market in Australia is growing rapidly, driven by the increasing integration of genomics into routine clinical care and government support through initiatives like the Genomics Health Futures Mission. High demand for next-generation sequencing (NGS) and whole exome/genome testing is improving diagnostic rates and facilitating precision medicine.
The rare disease genetic testing market in Australia is expanding rapidly with technological advancements in whole genome and exome sequencing. Trends indicate a rise in government-supported screening programs, partnerships with international genetic research organizations, and the integration of AI for faster diagnosis and interpretation.
Key challenges include limited public awareness and clinician familiarity with genetic testing services for rare diseases. Reimbursement policies are inconsistent, making it difficult for patients to access affordable testing. Moreover, the countrys healthcare infrastructure is not uniformly equipped to provide timely and accurate genetic diagnostics, particularly in rural areas.
As genomics becomes integral to healthcare, Australias rare disease genetic testing market offers vast investment opportunities. Growth is fueled by advancements in whole genome sequencing, public health programs, and increased awareness among clinicians and patients. Investors can focus on next-generation sequencing platforms, data interpretation software, and mobile genetic counseling services.
Government support for genetic testing in rare diseases is evident through Medicare-funded testing under the Medicare Benefits Schedule (MBS). Genomics Australia and the Australian Genomics Health Alliance receive federal funding to improve access to rare disease genetic diagnostics. Policies also support the integration of genomic testing into routine healthcare through pilot programs and national genomics data sharing frameworks.
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 Rare Disease Genetic Testing Market Overview |
3.1 Australia Country Macro Economic Indicators |
3.2 Australia Rare Disease Genetic Testing Market Revenues & Volume, 2021 & 2031F |
3.3 Australia Rare Disease Genetic Testing Market - Industry Life Cycle |
3.4 Australia Rare Disease Genetic Testing Market - Porter's Five Forces |
3.5 Australia Rare Disease Genetic Testing Market Revenues & Volume Share, By Disease Type, 2021 & 2031F |
3.6 Australia Rare Disease Genetic Testing Market Revenues & Volume Share, By Technology, 2021 & 2031F |
3.7 Australia Rare Disease Genetic Testing Market Revenues & Volume Share, By Specialty, 2021 & 2031F |
3.8 Australia Rare Disease Genetic Testing Market Revenues & Volume Share, By End use, 2021 & 2031F |
4 Australia Rare Disease Genetic Testing Market Dynamics |
4.1 Impact Analysis |
4.2 Market Drivers |
4.3 Market Restraints |
5 Australia Rare Disease Genetic Testing Market Trends |
6 Australia Rare Disease Genetic Testing Market, By Types |
6.1 Australia Rare Disease Genetic Testing Market, By Disease Type |
6.1.1 Overview and Analysis |
6.1.2 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Disease Type, 2021- 2031F |
6.1.3 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Neurological Disorders, 2021- 2031F |
6.1.4 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Immunological Disorders, 2021- 2031F |
6.1.5 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Hematology Diseases, 2021- 2031F |
6.1.6 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Endocrine & Metabolism Diseases, 2021- 2031F |
6.1.7 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Cancer, 2021- 2031F |
6.1.8 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Musculoskeletal Disorders, 2021- 2031F |
6.1.9 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Dermatology Disease, 2021- 2031F |
6.1.10 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Dermatology Disease, 2021- 2031F |
6.2 Australia Rare Disease Genetic Testing Market, By Technology |
6.2.1 Overview and Analysis |
6.2.2 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Next Generation Sequencing, 2021- 2031F |
6.2.3 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Whole Exome Sequencing, 2021- 2031F |
6.2.4 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Whole Genome Sequencing, 2021- 2031F |
6.2.5 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Array Technology, 2021- 2031F |
6.2.6 Australia Rare Disease Genetic Testing Market Revenues & Volume, By PCR-based Testing, 2021- 2031F |
6.2.7 Australia Rare Disease Genetic Testing Market Revenues & Volume, By FISH, 2021- 2031F |
6.2.8 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Karyotyping, 2021- 2031F |
6.2.9 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Karyotyping, 2021- 2031F |
6.3 Australia Rare Disease Genetic Testing Market, By Specialty |
6.3.1 Overview and Analysis |
6.3.2 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Molecular Genetic Tests, 2021- 2031F |
6.3.3 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Chromosomal Genetic Tests, 2021- 2031F |
6.3.4 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Biochemical Genetic Tests, 2021- 2031F |
6.4 Australia Rare Disease Genetic Testing Market, By End use |
6.4.1 Overview and Analysis |
6.4.2 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Research Laboratories & CROs, 2021- 2031F |
6.4.3 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Hospitals & Clinics, 2021- 2031F |
6.4.4 Australia Rare Disease Genetic Testing Market Revenues & Volume, By Diagnostic Laboratories, 2021- 2031F |
7 Australia Rare Disease Genetic Testing Market Import-Export Trade Statistics |
7.1 Australia Rare Disease Genetic Testing Market Export to Major Countries |
7.2 Australia Rare Disease Genetic Testing Market Imports from Major Countries |
8 Australia Rare Disease Genetic Testing Market Key Performance Indicators |
9 Australia Rare Disease Genetic Testing Market - Opportunity Assessment |
9.1 Australia Rare Disease Genetic Testing Market Opportunity Assessment, By Disease Type, 2021 & 2031F |
9.2 Australia Rare Disease Genetic Testing Market Opportunity Assessment, By Technology, 2021 & 2031F |
9.3 Australia Rare Disease Genetic Testing Market Opportunity Assessment, By Specialty, 2021 & 2031F |
9.4 Australia Rare Disease Genetic Testing Market Opportunity Assessment, By End use, 2021 & 2031F |
10 Australia Rare Disease Genetic Testing Market - Competitive Landscape |
10.1 Australia Rare Disease Genetic Testing Market Revenue Share, By Companies, 2024 |
10.2 Australia Rare Disease Genetic Testing Market Competitive Benchmarking, By Operating and Technical Parameters |
11 Company Profiles |
12 Recommendations |
13 Disclaimer |