Global AI in Rare Disease Diagnostics Market Size is valued at USD 1.7 Bn in 2025 and is predicted to reach USD 19.4 Bn by the year 2035 at a 28.7% CAGR during the forecast period for 2026 to 2035.
AI in Rare Disease Diagnostics Market Size, Share & Trends Analysis Distribution By Component (Hardware, Software, and Services), By Deployment Mode (Cloud-based and On-premise), By Technology (Computer Vision, Machine Learning, Natural Language Processing, Deep Learning, and Others), By Application (Metabolic Disorders, Genetic Disorders, Oncology Disorders, Neurological Disorders, and Others), By End-user (Hospitals, Research Institutes, Diagnostic Centers, and Others), and Segment Forecasts, 2026 to 2035
The use of sophisticated computational methods like machine learning, deep learning, and natural language processing to recognize, evaluate, and interpret complicated medical data for the early and precise identification of rare diseases is known as artificial intelligence (AI) in rare disease diagnostics. Large volumes of data, such as genetic sequencing data, medical images, electronic health records, and clinical notes, can be processed by AI systems to identify subtle patterns and correlations that are frequently challenging for clinicians to identify because rare disorders are uncommon and present in a variety of ways. The rising incidence of chronic illnesses, the growing need for precision diagnostics, and notable developments in machine learning algorithms that improve diagnostic precision and shorten clinical decision-making times are driving the AI in rare disease diagnostics market's expansion.
The AI in rare disease diagnostics market is anticipated to grow substantially due to the expansion of newborn screening programs worldwide, an increased emphasis on precision medicine and individualized treatment, the incorporation of artificial intelligence and machine learning in diagnostics, and improved healthcare systems in emerging markets. Moreover, leveraging AI for customized medicine, fostering partnerships between AI startups and healthcare providers, developing genomic diagnostics, and taking advantage of growing awareness of early detection are some of the major business prospects in the AI-powered rare illness diagnosis sector. Furthermore, the incorporation of AI-driven technologies in the diagnosis of rare diseases is further supported by the growing funding of rare illness research projects by governments and non-profits. Thus, this is anticipated to boost the AI in rare disease diagnostics market expansion over the forecast period.
In addition, the AI in rare disease diagnostics market is being driven by the increasing cooperation between research groups, tech firms, and healthcare institutions, which is encouraging innovation and knowledge exchange. The spread of biobanks, next-generation sequencing technologies, and electronic health records (EHRs) has produced a wealth of data that AI systems may use to learn. These partnerships are helping to create standardized procedures and legal frameworks in addition to improving the training and validation of AI models. Furthermore, an aging population, the expansion of healthcare infrastructure in emerging nations, and the rising incidence of rare illnesses worldwide are all contributing to the AI in rare disease diagnostics market's growth. However, there are significant barriers to the AI in rare disease diagnostics market, especially in the areas of data security, privacy, and regulatory compliance. The adoption of AI is hampered by the sensitive nature of patient data and the difficulty of exchanging data across borders, particularly in areas with strict data security regulations.
Which are the Leading Players in AI in Rare Disease Diagnostics Market?
Driver
Growing Need for Early and Accurate Diagnosis of Rare Diseases
The AI in rare disease diagnostics market is primarily driven by the urgent need for early and accurate diagnosis of rare diseases, which frequently have complicated and confusing symptoms. It can take years for traditional diagnostic techniques to produce definitive results, which causes major treatment delays and higher patient morbidity. By quickly evaluating enormous and varied datasets, including genomic, phenotypic, and clinical data, AI-powered systems that make use of cutting-edge machine learning and deep learning techniques are transforming this field. This greatly reduces diagnostic odysseys and improves patient outcomes by allowing clinicians to find illness patterns and correlations that would otherwise go undiscovered. Additionally, the ongoing development of AI algorithms guarantees that diagnostic precision increases with time, solidifying AI's role in identifying uncommon diseases.
Restrain/Challenge
Lack of Representative, High-Quality Data Needed to Develop and Assess Reliable Models
The scarcity of high-quality, representative data required to train and evaluate trustworthy models is a major barrier to the AI in rare disease diagnostics market. Due to the limited patient populations associated with rare diseases, datasets are frequently dispersed between hospitals, nations, and registries, with different formats, missing clinical information, and inconsistent imaging or genomic standards. Additionally, many areas still lack interoperable health records, and stringent privacy regulations and consent requirements can make cross-institution data sharing costly and time-consuming. Due to the "data sparsity" and bias that result from this combination, physicians and regulators are hesitant since AI systems may perform well in one center but fail to generalize to new populations, age ranges, or ethnicities.
The software segment held the largest share in the AI in rare disease diagnostics market in 2024. The foundation of AI-powered systems is software, which includes specialized diagnostic algorithms, data analytics tools, and machine learning platforms. Clinicians may make well-informed judgments more quickly and accurately thanks to these software tools, which handle data intake, processing, pattern identification, and result interpretation. Furthermore, the widespread acceptance of AI solutions is being fueled by the ongoing improvement of software architectures and the incorporation of user-friendly interfaces, which are making AI solutions more accessible to healthcare professionals.
In 2024, the genetic disorders segment dominated the AI in rare disease diagnostics market because genetics plays a crucial role in diagnosis, and because inherited uncommon diseases are becoming more common. AI-powered systems are excellent at finding harmful mutations, processing complex genomic data, and linking genotypic data to clinical symptoms. Early diagnosis and treatment of diseases such as muscular dystrophies, uncommon congenital syndromes, and cystic fibrosis are greatly improved by this skill. Additionally, the use of AI in conjunction with next-generation sequencing and genomic data processing has made it possible to identify novel genetic mutations and variants that cause disease with previously unheard-of speed and precision.
The AI in rare disease diagnostics market was dominated by North America region in 2024 attributed to the existence of top AI technology firms, significant expenditures in healthcare IT, sophisticated legal frameworks that encourage AI innovation, and the extensive use of electronic health record systems that enable AI integration. Strong cooperation between IT firms and healthcare providers benefits the area by fostering an environment that is favorable to the development and implementation of AI diagnostic solutions.
Additionally, the adoption of AI diagnostic tools is also made possible by the region's strong healthcare infrastructure, high healthcare spending, and significant emphasis on technology innovation. North America is leading the world in the application of AI medical diagnostics due to the implementation of comprehensive AI strategies by major U.S. healthcare systems that include clinical decision support, predictive analytics, and diagnostic imaging.
| Report Attribute | Specifications |
| Market size value in 2025 | USD 1.7 Bn |
| Revenue forecast in 2035 | USD 19.4 Bn |
| Growth Rate CAGR | CAGR of 28.7% from 2026 to 2035 |
| Quantitative Units | Representation of revenue in US$ Bn and CAGR from 2024 to 2034 |
| Historic Year | 2022 to 2025 |
| Forecast Year | 2026-2035 |
| Report Coverage | The forecast of revenue, the position of the company, the competitive market structure, growth prospects, and trends |
| Segments Covered | By Component, By Deployment Mode, By Technology, By Application, By End-user, and By Region |
| Regional Scope | North America; Europe; Asia Pacific; Latin America; Middle East & Africa |
| Country Scope | U.S.; Canada; U.K.; Germany; China; India; Japan; Brazil; Mexico; The UK; France; Italy; Spain; China; Japan; India; South Korea; Southeast Asia; South Korea; Southeast Asia |
| Competitive Landscape | Deep Genomics, Bayer, Congenica, Enlitic, Face2Gene, BioMind, Fabric Genomics, FDNA, IBM Watson Health, Invitae, Freenome, GeneDx, Mendel.ai, Nostos Genomics, PathAI, SOPHiA GENETICS, Tempus Labs, PhenoTips, and Raremark |
| Customization Scope | Free customization report with the procurement of the report, Modifications to the regional and segment scope. Geographic competitive landscape. |
| Pricing and Available Payment Methods | Explore pricing alternatives that are customized to your particular study requirements. |
