Rare Disease Diagnostics Market Size & Outlook, 2025-2033

Rare Disease Diagnostics Market Size

The global rare disease diagnostics market size was valued at USD 1152.35 million in 2024 and is expected to grow from USD 1317.14 million in 2025 to reach USD 3837.08 million in 2033, growing at a CAGR of 14.3% during the forecast period (2025–2033).

Rare disease diagnostics are undergoing a transformative shift, thanks to decreasing costs in genomic sequencing and advancements in translational research. These innovations are making genetic testing more accessible and affordable, providing patients with quicker and more accurate diagnostic options. Early detection of rare diseases has historically been challenging, but the use of next-generation sequencing (NGS) technology is helping to identify previously undetected mutations. By enabling more precise diagnostics, these technologies are improving patient outcomes and paving the way for personalized treatments.

Further accelerating industry growth is the collaborative effort seen in initiatives like the European Rare Diseases Research Alliance (ERDERA). Launched in September 2024, with a substantial budget of USD 422.61 million (€380 million), the alliance aims to significantly enhance the lives of 30 million rare disease patients across Europe. By integrating over 170 public and private organizations, ERDERA focuses on improving research in prevention, diagnosis, and treatment. As these efforts expand, genetic testing will become a critical component of rare disease diagnostics, driving substantial growth and innovation in the sector for years to come.

Latest Market Trends

Advancements in Genomic Technologies

The rapid advancements in genomic technologies, particularly next-generation sequencing (NGS) and microarrays, are significantly transforming the landscape of rare disease diagnostics. These technologies enable faster, more accurate, and cost-effective genetic testing, revolutionizing rare genetic disorders identification and treatment.

In response to this market trend, key players in the industry are actively adopting and integrating these advanced technologies into their diagnostic solutions. For instance, in April 2023, CENTOGENE announced the launch of “NEW CentoGenome,” a cutting-edge Whole Genome Sequencing (WGS) test designed to improve the diagnosis of rare and neurodegenerative diseases.

Rising Government Initiatives and Regulatory Support

Favorable government initiatives and regulatory frameworks are playing a pivotal role in accelerating the growth of the market. Many governments around the world have recognized the need for enhanced support in rare disease research and diagnosis, leading to the creation of various programs and policies aimed at addressing this critical healthcare gap.

These initiatives are helping to drive innovation in genetic testing and making advanced diagnostic tools more accessible to patients and healthcare providers.

• For instance, in June 2022, the U.S. FDA launched a 5-year program focused on rare neurodegenerative diseases aimed at improving and extending the lives of affected individuals by advancing the development of safe, effective medical products and enhancing patient access to innovative treatments.

To get more insights about this report Download Free Sample Report

Rare Disease Diagnostics Market Growth Factors

Growing Availability of Patient Registries

The increasing number of patient registries is a key driver in the rare disease genetic testing market. These registries enable the pooling of patient data, which is essential for achieving adequate sample sizes for both epidemiological studies and clinical research. By supporting the planning and execution of clinical trials, including patient recruitment and enrollment, registries enhance the feasibility of research efforts.

Moreover, they provide valuable insights to researchers, aid in public health initiatives, and contribute to the dissemination of new clinical findings, all of which help improve diagnostic accuracy and patient care in rare disease management. For instance, a March 2022 article in the Journal Frontiers in Endocrinology highlighted that patient registries serve multiple purposes in rare disease research. They enhance understanding of disease progression and assess the effectiveness of preventive care, diagnostics, and therapies.

Increasing Demand for Early Diagnosis

The growing emphasis on early diagnosis is significantly boosting the adoption of advanced genetic testing solutions. Early detection is vital in rare diseases, as it allows healthcare providers to intervene promptly and tailor treatment plans, improving patient outcomes. Traditionally, rare disease patients endure prolonged diagnostic journeys, often facing years of uncertainty. By implementing early diagnosis, patients gain quicker access to the necessary treatments, enhancing their quality of life.

To support this demand, major research institutions and industry players are focusing on developing AI-powered tools to improve diagnostic accuracy. A prime example is the October 2023 launch of STARVar, an AI-driven tool developed by KAUST researchers. STARVar integrates genomic data, scientific literature, and patient records to efficiently pinpoint disease-causing genetic variants, significantly improving the precision of rare disease diagnosis. These technological innovations are propelling the market, facilitating early diagnosis, and driving industry expansion.

Restraining Factors

Lack of Reimbursement Policies

The lack of consistent reimbursement policies for genetic testing, such as whole-genome sequencing (WGS) or next-generation sequencing (NGS), poses a major challenge, as many insurance providers do not fully cover these costs, leaving patients to bear substantial out-of-pocket expenses. This creates financial barriers, especially for lower-income patients, further leading to delays in diagnosis and treatment. Moreover, the lack of a standardized global approach to reimbursement exacerbates disparities in access, hindering the adoption and availability of advanced diagnostic technologies across different regions.

The Prohibitive Cost of Treatment

Rare diseases, commonly known as "orphan diseases," encounter significant treatment costs due to their limited market size. With only a few pharmaceutical companies working on these treatments, prices are often exorbitant, typically ranging from USD 100 million to over USD 1 billion per therapy, particularly for lifelong treatments. Although initiatives like the Orphan Drug Act (ODA) in the U.S. offer incentives, the persistent high costs pose challenges and raise concerns about the long-term sustainability of funding programs for rare diseases worldwide.

Market Opportunity

Integration of Ai and Machine Learning

The integration of AI and machine learning (ML) offers transformative opportunities in the global rare disease diagnostics market by enhancing diagnostic accuracy and speed. AI algorithms can analyze vast datasets of genetic information, medical histories, and clinical data to identify patterns that may be missed by traditional methods. This technology helps in reducing the time to diagnosis, which is often lengthy for rare diseases, thus improving patient outcomes.

• For example, AI-driven platforms like IBM Watson Health have been utilized to analyze genomic data, enabling the early detection of diseases like Gaucher or Pompe disease. By integrating AI, healthcare providers can quickly pinpoint rare diseases, reducing diagnostic errors and healthcare costs. This approach is particularly beneficial in underserved regions where specialized healthcare professionals may not be available, expanding the reach of rare disease diagnosis globally.

Regional Insights

North America holds a leading position in global rare disease diagnostics, attributed to numerous disease registries and a significant number of R&D facilities focused on ultra-rare diseases and the high incidence of rare diseases.

For instance,

• In 2024, according to the American Cancer Society estimates, approximately 20,800 people in the U.S. will be diagnosed with acute myeloid leukemia (AML), with most cases occurring in adults.
• In 2023, statistics from the Public Health Agency of Canada reported that nearly 2.5 million Canadians aged 40 and older were diagnosed with osteoporosis, with women accounting for 81% of these cases.

Thus, the rising incidence of such rare diseases is contributing to the growing adoption of Next-generation sequencing technology-based devices, which in turn is driving market growth in the region.

U.s. Rare Disease Diagnostics Market Trends

The U.S. leads the market, driven by medical innovation and technology, holding the largest market share. In September 2022, Predicine Inc. received USFDA approval for the PredicineCARE cfDNA Assay, an NGS device for tumor mutation profiling. This marked a significant advancement in the U.S. rare disease genetic testing market.

In March 2023, the Government of Canada allocated USD 32 million over five years to the Canadian Institutes of Health Research (CIHR) to advance rare disease research, focusing on developing better diagnostic tools and establishing a robust Canadian rare disease clinical trials network.

Asia Pacific Rare Disease Diagnostics Market Trends

The Asia Pacific region is expected to witness the fastest growth rate in the rare disease diagnostics market, driven by increased awareness and improved diagnostic capabilities, along with the introduction of supportive policies and frameworks to reduce rare disease incidences in the region.

For instance,

• In March 2021, the government launched the National Policy for Rare Diseases (NPRD), aiming to reduce the incidence of rare diseases by addressing resource constraints and improving access to affordable healthcare for affected patients.

In India, as of July 2022, an estimated 72 to 96 million people were affected by rare diseases, according to the Observer Research Foundation (ORF). Highlighting the critical need for rare disease diagnostics, the National Registry for Rare Diseases, established by the Indian Council of Medical Research (ICMR) in October 2021, documented 4,001 distinct rare diseases. This growing registry underscores the pressing demand for specialized diagnostic solutions across the country. Common conditions such as Haemophilia, Thalassemia, and Lysosomal storage disorders drive demand for advanced diagnostic solutions to enable early detection and management.

China's National Rare Diseases Registry System, the country's first national registry covering multiple rare diseases, plays a key role in advancing rare disease diagnostics. In September 2023, the National Health Commission of China released the Second List of Rare Diseases, featuring 86 conditions. This prompted the Chinese government to implement policies aimed at improving the diagnosis, treatment, and availability of medications, significantly enhancing access to diagnostic tools and therapies for rare disease patients.

Japan's rare disease diagnostics market is expanding due to regulatory reforms aimed at streamlining drug approvals and enhancing access to innovative therapies. In 2024, Japan introduced measures to ease multi-regional clinical trials and reduce the "drug loss" gap, improving access to treatments that were previously unavailable. These changes are making Japan a more attractive market for rare disease diagnostics and orphan drug companies, accelerating patient access to advanced diagnostics and therapies.

Europe Rare Disease Diagnostics Market Trends

According to the Federal Ministry of Health, over four million people are affected by rare diseases. Despite the collective prevalence of rare diseases being comparable to major chronic conditions, individual diseases remain poorly understood due to the small number of affected patients. This knowledge gap is driving increased demand for advanced diagnostic solutions, fueling the growth of the market as awareness and efforts to improve diagnosis and treatment options have gained momentum in recent years.

In September 2023, a report from the National Institute for Health and Care Research (NIHR) revealed that over USD 1.46 billion was invested in rare disease research in the UK between 2016 and 2021, benefiting 3.5 million individuals living with rare diseases. This investment significantly boosted research capabilities, expanded access to advanced diagnostic technologies, and promoted early detection and targeted therapies, ultimately improving healthcare outcomes for affected patients.

Product Type Insights

The market is bifurcated into kits and assays and panels. The kits and assays segment dominates the market, holding the largest market revenue due to their extensive use in clinical and research applications for detecting rare genetic disorders. These products provide standardized, reliable methods for identifying disease biomarkers, driving their dominance in the market.

• For instance, in February 2023, Thermo Fisher Scientific introduced over 50 Absolute Q liquid biopsy assays for research use, enhancing the ability to detect rare genetic variants in liquid biopsies and further supporting advancements in rare disease diagnostics.

Disease Type Insights

The market is bifurcated into gastroenterology disease, endocrine and metabolism disorders disease, cardiovascular disorders, neurology disease, hematology and oncology disease, dermatology disease, and others. The endocrine & metabolism diseases segment dominates the market, holding the largest market revenue. This surge is driven by advancements in understanding the genetic causes of endocrine disorders like Cushing's syndrome, which has boosted the adoption of genetic testing for these diseases. Moreover, the identification of inherited mutations in conditions like primary pigmented nodular adrenocortical disease is accelerating the development of genetic testing tools.

• For instance, in May 2023, NCBI reported that around 13 million people in the U.S., or dszSdga major endocrine zzxxdx¸, whole exome sequencing, microarrays, and others.

Technology Insights

The market is bifurcated into next-generation sequencing, whole genome sequencing, whole exome sequencing, microarrays, and others. The next-generation sequencing (NGS) segment dominates the market holding the largest market revenue due to the widespread availability and use of NGS-based gene panels in diagnosing cancer, neurologic diseases, cardiovascular diseases, and other conditions. NGS is supported by strategic initiatives from industry players, such as Avesthagen Ltd.’s alliance with Wipro Ltd. for genetic testing commercialization.

• For instance, in September 2022, Illumina Inc. launched the NovaSeq X Series (NovaSeq X and NovaSeq X Plus), production-scale next-generation sequencers designed to deliver faster, more powerful, and sustainable sequencing capabilities.

End-User Insights

The market is divided into hospitals & clinics, diagnostics laboratories, and research laboratories & CROs. The research laboratories and contract research organizations (CROs) segment dominates the market due to their critical role in handling complex diagnostic procedures, facilitating clinical trials, and supporting ongoing research for targeted treatments. These facilities possess advanced technologies and expertise required for in-depth analysis of rare genetic conditions, enabling precise diagnoses that are crucial for personalized therapies. Moreover, the rise in molecular genetic testing has significantly boosted the demand for specialized laboratories, many of which are accredited for clinical genetics and pathology testing.

Company Market Share

Key players in the rare disease genetic testing market are adopting various strategies such as mergers and acquisitions, geographical expansions, and strategic collaborations to strengthen their market presence.

Invitae Corporation: An Emerging Player in the Market

Invitae Corporation emerged as a key player in the market and is known for offering accessible and affordable genetic testing services. In July 2024, Invitae launched the “Unlock Behind the Seizure” program, aimed at providing affordable genetic testing for pediatric epilepsy patients. This initiative enhances genetic testing access and contributes valuable genetic and clinical data to strengthen Invitae’s rare disease database.

Recent developments at Invitae Corporation include:

• In January 2024, Invitae Corporation partnered with BridgeBio Pharma to leverage genetic insights for rare disease drug discovery. The collaboration aims to identify genetic modifiers and novel therapeutic targets to develop new treatments for rare genetic diseases, enhancing Invitae's role in genetics-based drug development.

List of key players in Rare Disease Diagnostics Market

1. 23andMe Inc.
2. 3billion Inc.
3. Agilent Technologies Inc.
4. Beijing Genomics Institute (BGI)
5. CENTOGENE N.V.
6. Eurofins Scientific SE
7. GENEWIZ Inc.
8. Illumina Inc.
9. In-Depth Genomics
10. Invitae Corporation
11. Laboratory Corporation of America Holdings
12. OPKO Health
13. PerkinElmer Inc.
14. Quest Diagnostics Incorporated
15. Travere Therapeutics Inc.

To get more findings about this report Download Market Share

Recent Developments

• March 2024- CENTOGENE N.V. extended its strategic partnership with Takeda to provide continued access to genetic testing for patients with rare diseases known as Lysosomal Storage Disorders (LSDs), such as Fabry disease, Gaucher disease, and Hunter syndrome.

Analyst Opinion

According to our analyst, the global rare disease diagnostics market presents strong growth potential due to the rising demand for early and accurate diagnoses. Companies that strategically invest in advanced technologies like genetic testing and establish partnerships will likely secure a competitive advantage.

However, overcoming regulatory challenges and addressing the high costs associated with diagnostics will be critical. By focusing on expanding access through cost-effective solutions, businesses can unlock substantial market opportunities and enhance their positioning in this evolving landscape.