Artificial Intelligence Powered Rare Disease Diagnosis Research Report 2025: Market to Surpass $5.5 Billion by 2029 on Accelerated Adoption of Predictive and Personalized Healthcare - Forecast to 2034

Dublin, Nov. 04, 2025 (GLOBE NEWSWIRE) -- The "Artificial Intelligence (AI)-Powered Rare Disease Diagnosis Market Report 2025" report has been added to ResearchAndMarkets.com's offering.

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.

Key Attributes:

Report Scope

Markets Covered:

• Component: Software; Hardware; Services
• Technology: Machine Learning; Deep Learning; Natural Language Processing; Computer Vision; Other Technologies
• Deployment Mode: Cloud-Based; On-Premises
• Diagnosis Type: Genetic Disorders; Autoimmune Disorders; Metabolic Disorders; Infectious Diseases; Other Diagnosis Types
• End-User: Hospitals; Diagnostic Centers; Research Institutes; Specialty Clinics; Other End-Users

Subsegments:

• Software: Clinical Decision Support; Data Analytics Platforms; Genomic Interpretation Tools; Machine Learning Algorithms; Diagnostic Reporting Software
• Hardware: Sequencing Instruments; Imaging Devices; Laboratory Equipment; Computational Servers; Diagnostic Sensors
• Services: Consulting Services; Implementation And Integration; Training And Support; Data Management Services; Maintenance And Upgrades

Companies Featured

• 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

For more information about this report visit https://www.researchandmarkets.com/r/9dgq43

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