The rare disease genetic testing market was valued based on a 2024 base year and is projected to grow at an approximate CAGR of 13% during the forecast period from 2025 to 2035. This growth is driven by advancements in genetic testing technologies and increasing demand for early, accurate diagnosis.
Market Demand
- Rapid Technological Advancements: Test efficiency and accuracy have increased thanks to innovations including targeted gene panels, AI-driven diagnostics, and next-generation sequencing (NGS). These advancements enable precise identification of genetic mutations, support personalized treatment, and open new avenues for research and drug discovery—boosting patient outcomes and market growth.
- Rising Prevalence of Genetic Disorders: The increasing incidence of genetic and congenital disorders is driving demand for comprehensive diagnostic solutions. Global market expansion is being driven by expanded testing programs, RD activities, customized medical initiatives, and encouraging government regulations.
- Focus on Early Detection in Pediatrics: Early rare illness detection and prevention are becoming more and more important, particularly for young patients. Demand for genetic testing solutions is being fueled and acceptance is rising due to increased knowledge, expanded testing programs, better insurance coverage, and supportive healthcare legislation.
Industrial Impact
The global rare disease genetic testing market has witnessed significant growth, driven by the increasing demand for early detection of rare diseases and the rising prevalence of these conditions. The market is expanding as a result of the increased focus on early diagnosis and prevention, especially in pediatric populations around the world. Genetic testing for rare diseases has the potential to completely transform healthcare by facilitating more sophisticated diagnostic techniques, enhancing patient outcomes, and speeding up research. Furthermore, the market is expanding because to reasons including the shorter turnaround time for rare illness genetic testing and the rise in patient demand, which makes it an essential part of contemporary precision medicine.
Recent Developments
- In April 2023, Agilent Technologies, Inc. and Theragen Bio collaborated in South Korea to enhance bioinformatic solutions for cancer genomic profiling, further advancing precision medicine.
- In April 2023, 3billion received accreditation from the California Department of Public Health (CDPH) as a clinical laboratory. With this accreditation, hospitals across California can now utilize 3 billion's rare disease genetic testing services for diagnostics and claim insurance coverage for these tests.
- In February 2023, Akili Labs and BGI Genomics established the first commercial clinical sequencing facility in Africa, strengthening access to rare disease genetic testing and advanced genomic diagnostics in the region.
- In January 2023, Premier Research and CENTOGENE formed a strategic partnership to accelerate and reduce the risk of clinical development for rare diseases, facilitating advancements in rare disease genetic testing and therapeutic research.
- In February 2023, Illumina introduced the first NovaSeq X Plus sequencer and unveiled workflow insights on Illumina Complete Long Reads at the Advances in Genome Biology and Technology (AGBT) conference, supporting advancements in genomic sequencing and rare disease genetic testing.
- In March 2023, Invitae announced a partnership with Epic to streamline rare disease genetic testing through Aura, Epic’s specialty diagnostics suite. This collaboration aims to integrate genetic test results seamlessly into provider workflows, making genetic insights more accessible for informed treatment decisions.
Want to learn more about Healthcare Vertical. Click Here!
Conclusion
The rare disease genetic testing market is set for significant growth, driven by advances in technologies like next-generation sequencing and AI that enhance diagnostic accuracy and enable personalized treatments. The need for thorough testing programs is growing as genetic and congenital illnesses become more commonplace globally. Market adoption is also being accelerated by an increasing emphasis on early detection and prevention, particularly in pediatric populations, which is being bolstered by increased knowledge, better healthcare policy, and wider insurance coverage. All of these elements working together are revolutionizing the diagnosis and treatment of rare diseases, opening up new avenues for study and innovation in this crucial area of healthcare, improving patient outcomes, and enabling early treatments.
