Artificial Intelligence (AI)-Powered Rare Disease Diagnosis Market Report 2025

The artificial intelligence (AI)-powered rare disease diagnosis market size has grown exponentially in recent years. It will grow from $1.54 billion in 2024 to $1.99 billion in 2025 at a compound annual growth rate (CAGR) of 29.1%. The growth observed during the historic period can be linked to increasing adoption of artificial intelligence (AI) in healthcare, higher investment in rare disease research, greater awareness of early diagnosis, expansion of healthcare infrastructure, and stronger government support for digital health initiatives.

The artificial intelligence (AI)-powered rare disease diagnosis market size is expected to see exponential growth in the next few years. It will grow to $5.5 billion in 2029 at a compound annual growth rate (CAGR) of 28.9%. The growth projected for the forecast period can be attributed to wider integration of machine learning algorithms, rising demand for personalized medicine, growing collaborations between AI startups and hospitals, increased availability of genomic data, and ongoing digitalization of healthcare. Key trends during the forecast period include advancements in deep learning models, innovations in predictive diagnostics, developments in natural language processing for medical data, research in multi-omics integration, and continuous enhancements in AI-driven imaging technologies.

The growing prevalence of autoimmune disorders is expected to drive the expansion of the AI-powered rare disease diagnosis market. Autoimmune disorders occur when the immune system mistakenly attacks the body’s healthy cells, resulting in inflammation and tissue damage. The rising number of individuals experiencing immune system dysfunctions has led to a higher demand for early diagnosis, advanced treatments, and continuous symptom management. AI-powered rare disease diagnosis helps manage autoimmune conditions by quickly identifying complex diseases, supporting personalized treatment plans, and improving diagnostic accuracy. For example, the Australian Institute of Health and Welfare reported in June 2024 that approximately 514,000 people (2%) in Australia were living with rheumatoid arthritis in 2022, highlighting the growing need for accurate diagnosis and treatment. As such, the increasing incidence of autoimmune disorders is driving market growth in AI-powered rare disease diagnosis.

Companies in the AI-powered rare disease diagnosis market are focusing on developing cutting-edge technologies such as unified genomic diagnostic solutions to improve diagnostic precision, reduce waiting times, and offer deeper insights into complex genetic conditions. A unified genomic diagnostics solution integrates whole-genome sequencing with AI-driven analysis to provide comprehensive genetic insights. For example, in October 2023, Oxford Nanopore Technologies, a UK-based biotechnology firm, and Fabric Genomics, a US-based AI-driven company, launched a unified whole-genome sequencing solution. This collaboration combines rapid sequencing with AI-based variant interpretation, enabling faster and more accurate diagnosis of rare diseases. The system integrates real-time nanopore sequencing with AI-powered genomic analysis to quickly detect rare genetic variants, offering clinicians actionable insights that enhance diagnostic speed and accuracy, especially in pediatric care.

In May 2022, Sema4, a US-based AI-driven genomic and clinical data intelligence platform, acquired GeneDx Holdings Corp. in a bid to strengthen its position in rare disease diagnostics. The acquisition, which was made for an undisclosed amount, allows Sema4 to merge GeneDx's vast genomic data resources with its AI-powered platforms. This integration is aimed at improving diagnostic precision and accelerating personalized medicine. GeneDx Holdings, a US-based biotechnology and medical diagnostics company, specializes in using genomics and artificial intelligence to diagnose rare genetic diseases.

Major players in the artificial intelligence (AI)-powered rare disease diagnosis market are Ambry Genetics Corporation, MedGenome Inc., Sophia Genetics SA, Variantyx Inc., Facial Dysmorphology Novel Analysis, Atropos Health Inc., Congenica Ltd., Saventic Care Sp. z o.o., Rapid Innovation LLC, Centogene N.V., Impilo AB, ThinkGenetic Inc., ClairLabs Ltd., 3billion Inc., OpenEvidence Inc., GenomeUp S.R.L., Mendel.ai Inc., RareSum GmbH, DeepRare AI Solutions, Zebra-Llama Project.

North America was the largest region in the artificial intelligence (AI)-powered rare disease diagnosis market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in artificial intelligence (AI)-powered rare disease diagnosis report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the artificial intelligence (AI)-powered rare disease diagnosis market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report’s Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the healthcare sector, particularly in the supply of critical medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are facing higher costs for imported surgical instruments, imaging equipment, and consumables such as syringes and catheters, many of which have limited domestic alternatives. These increased costs are straining healthcare budgets, leading some providers to delay equipment upgrades or pass on expenses to patients. Additionally, tariffs on raw materials and components are disrupting the production of essential drugs and devices, causing supply chain bottlenecks. In response, the industry is diversifying sourcing strategies, boosting local manufacturing where possible, and advocating for tariff exemptions on life-saving medical products.

Artificial intelligence (AI)-powered rare disease diagnosis involves the application of advanced algorithms and machine learning techniques to accurately identify uncommon medical conditions. These systems process complex patient data, including genetic, clinical, and imaging information, to uncover patterns that may be overlooked by traditional diagnostic approaches.

The primary components of artificial intelligence (AI)-powered rare disease diagnosis include software, hardware, and services. Software comprises programs, data, and instructions that guide a computer or device in performing specific tasks. Technologies involved include machine learning, deep learning, natural language processing, computer vision, and others. Deployment modes consist of cloud-based and on-premises solutions. Diagnosis types cover genetic disorders, autoimmune disorders, metabolic disorders, infectious diseases, and more, with end users including hospitals, diagnostic centers, research institutes, specialty clinics, and other healthcare organizations.

The artificial intelligence (AI)-powered rare disease diagnosis market research report is one of a series of new reports that provides artificial intelligence (AI)-powered rare disease diagnosis market statistics, including the artificial intelligence (AI)-powered rare disease diagnosis industry global market size, regional shares, competitors with the artificial intelligence (AI)-powered rare disease diagnosis market share, detailed artificial intelligence (AI)-powered rare disease diagnosis market segments, market trends, and opportunities, and any further data you may need to thrive in the artificial intelligence (AI)-powered rare disease diagnosis industry. This artificial intelligence (AI)-powered rare disease diagnosis market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenarios of the industry.

The artificial intelligence (AI)-powered rare disease diagnosis market includes revenues earned by entities by providing services such as genomic sequencing analysis, clinical data integration, artificial intelligence (AI)-based imaging interpretation, predictive analytics for rare diseases, and personalized treatment recommendations. The market value includes the value of related goods sold by the service provider or included within the service offering. The artificial intelligence (AI)-powered rare disease diagnosis market also includes sales of genetic testing kits, imaging scanners, biosensors, lab automation instruments, point-of-care testing devices, wearable health monitors, sequencing machines, microfluidic chips, and pathology slide scanners. Values in this market are ‘factory gate’ values, that is the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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