Artificial Intelligence (AI)-Powered Rare Disease Diagnosis Global Market Report 2025
상품코드:1855796
리서치사:The Business Research Company
발행일:On Demand Report
페이지 정보:영문 250 Pages
라이선스 & 가격 (부가세 별도)
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한글목차
AI 희귀질환 진단 시장 규모는 최근 급격히 확대되고 있습니다. 2024년 15억 4,000만 달러로 평가되었고, 2025년에는 19억 9,000만 달러에 달하고, CAGR 29.1%로 성장할 전망입니다. 역사적인 기간에 나타난 성장은 건강 관리에서 인공지능(AI) 채택 증가, 희귀질환 연구에 대한 투자 증가, 조기 진단에 대한 인식 증가, 건강 관리 인프라 확대, 디지털 건강 이니셔티브에 대한 정부 지원 강화와 관련이 있습니다.
AI 희귀질환 진단 시장 규모는 향후 수년간 비약적인 성장이 예상됩니다. 2029년에는 CAGR 28.9%로 55억 달러로 성장할 전망입니다. 예측 기간에 예측되는 성장은 머신러닝 알고리즘의 광범위한 통합, 맞춤형 의료에 대한 수요 증가, AI 신흥 기업과 병원 간의 협력 관계 확대, 유전체 데이터 가용성 증가, 의료 디지털화의 진행으로 인한 것으로 예측됩니다. 예측 기간 동안의 주요 동향에는 딥러닝 모델의 진보, 예측 진단 혁신, 의료 데이터의 자연 언어 처리 개발, 멀티오믹스 통합 연구, AI 구동 이미징 기술의 지속적인 강화 등이 포함됩니다.
자가면역 질환의 유병률 증가는 AI 희귀질환 진단 시장의 확대를 촉진할 것으로 예측됩니다. 자가면역 질환은 면역계가 실수로 신체의 건강한 세포를 공격하고 염증과 조직 손상을 유발하여 발생합니다. 면역계의 기능 장애를 경험하는 개인의 수가 증가함에 따라 조기 진단, 고급 치료 및 지속적인 증상 관리에 대한 수요가 증가하고 있습니다. AI 희귀질환 진단은 복잡한 질환을 신속하게 확인하고, 맞춤 치료 계획을 지원하며, 진단 정확도를 향상시켜 자가면역 질환을 관리하는 데 도움이 됩니다. 예를 들어 호주 보건복지연구소는 2024년 6월 호주에서는 2022년 약 51만 4,000명(2.0%)이 류마티스 관절염과 공존하고 있다고 보고하여 정확한 진단과 치료의 필요성이 커지고 있음을 강조합니다. 이와 같이 자가면역질환의 발생률 증가는 AI 희귀질환 진단 시장 성장을 가속하고 있습니다.
AI 희귀질환 진단 시장의 각 사는 진단 정밀도 향상, 대기 시간 단축, 복잡한 유전 질환에 대한 보다 깊은 통찰력 제공을 목적으로 한 통합 유전체 진단 솔루션 등 첨단 기술 개발에 주력하고 있습니다. 통합 유전체 진단 솔루션은 전체 유전체 시퀀싱와 AI 주도 분석을 통합하여 종합적인 유전학적 통찰력을 제공합니다. 예를 들어, 2023년 10월 영국의 생명공학 기업인 Oxford Nanopore Technologies와 미국의 AI 구동 기업인 Fabric Genomics는 통합된 전체 유전체 시퀀싱 솔루션을 발표했습니다. 이 협업은 신속한 시퀀싱와 인공지능 기반 변형 해석을 결합하여 희귀질환의 신속하고 정확한 진단을 가능하게합니다. 이 시스템은 실시간 나노포어 시퀀싱과 AI를 활용한 유전체 분석을 통합하여 희귀 유전자 변이를 신속하게 검출함으로써 임상의에 실행 가능한 인사이트력을 제공하며, 특히 소아 의료에서의 진단 속도와 정밀도를 향상시킵니다.
목차
제1장 주요 요약
제2장 시장 특징
제3장 시장 동향과 전략
제4장 시장 : 금리, 인플레이션, 지정학, 무역전쟁과 관세, 그리고 코로나 및 회복이 시장에 미치는 영향을 포함한 거시경제 시나리오
제5장 세계의 성장 분석과 전략 분석 프레임워크
세계의 AI 희귀질환 진단 시장 : PESTEL 분석(정치, 사회, 기술, 환경, 법적 요인, 촉진요인과 억제요인)
최종 이용 산업의 분석
세계의 AI 희귀질환 진단 시장 : 성장률 분석
세계의 AI 희귀질환 진단 시장 실적 : 규모와 성장, 2019년-2024년
세계의 AI 희귀질환 진단 시장 예측 : 규모와 성장, 2024년-2029년, 2034년
세계의 AI 희귀질환 진단 : 총잠재시장 규모(TAM)
제6장 시장 세분화
세계의 AI 희귀질환 진단 시장 : 컴포넌트별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
소프트웨어
하드웨어
서비스
세계의 AI 희귀질환 진단 시장 :기술별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
머신러닝
딥러닝
자연언어처리
컴퓨터 비전
기타 기술
세계의 AI 희귀질환 진단 시장 : 전개 모드별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
클라우드 기반
On-Premise
세계의 AI 희귀질환 진단 시장 :진단 유형별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
유전자 질환
자가면역질환
대사질환
감염증
기타 진단 유형
세계의 AI 희귀질환 진단 시장 : 최종 사용자별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
병원
진단센터
연구기관
전문 클리닉
기타 최종 사용자
세계의 AI 희귀질환 진단 시장 : 세분화 소프트웨어, 유형별, 분석과 예측
임상 의사 결정 지원
데이터 분석 플랫폼
유전체 분석 도구
머신러닝 알고리즘
진단 보고서 소프트웨어
세계의 AI 희귀질환 진단 시장 : 세분화 하드웨어, 유형별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
시퀀싱 기기
영상 기기
실험실 장비
컴퓨팅 서버
진단 센서
세계의 AI 희귀질환 진단 시장 : 세분화 서비스, 유형별, 분석과 예측
컨설팅 서비스
구현 및 통합
교육 및 지원
데이터 관리 서비스
유지보수 및 업그레이드
제7장 지역별/국가별 분석
세계의 AI 희귀질환 진단 시장 : 지역별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
세계의 AI 희귀질환 진단 시장 : 국가별, 분석과 예측, 2019년-2024년, 2024년-2029년, 2034년
제8장 아시아태평양 시장
제9장 중국 시장
제10장 인도 시장
제11장 일본 시장
제12장 호주 시장
제13장 인도네시아 시장
제14장 한국 시장
제15장 서유럽 시장
제16장 영국 시장
제17장 독일 시장
제18장 프랑스 시장
제19장 이탈리아 시장
제20장 스페인 시장
제21장 동유럽 시장
제22장 러시아 시장
제23장 북미 시장
제24장 미국 시장
제25장 캐나다 시장
제26장 남미 시장
제27장 브라질 시장
제28장 중동 시장
제29장 아프리카 시장
제30장 경쟁 구도와 기업 프로파일
AI 희귀질환 진단 시장 : 경쟁 구도
AI 희귀질환 진단 시장 : 기업 프로파일
Ambry Genetics Corporation : 개요, 제품 및 서비스, 전략 및 재무 분석
MedGenome Inc. : 개요, 제품 및 서비스, 전략 및 재무 분석
Sophia Genetics SA : 개요, 제품 및 서비스, 전략 및 재무 분석
Variantyx Inc. : 개요, 제품 및 서비스, 전략 및 재무 분석
Facial Dysmorphology Novel Analysis : 개요, 제품 및 서비스, 전략 및 재무 분석
제31장 기타 주요 기업 및 혁신 기업
Atropos Health Inc.
Congenica Ltd.
Saventic Care Sp. z oo
Rapid Innovation LLC
Centogene NV
Impilo AB
ThinkGenetic Inc.
ClairLabs Ltd.
3billion Inc.
OpenEvidence Inc.
GenomeUp SRL
Mendel.ai Inc.
RareSum GmbH
DeepRare AI Solutions
Zebra-Llama Project
제32장 세계 시장 경쟁 벤치마킹과 대시보드
제33장 주요 인수합병(M&A)
제34장 최근 시장 동향
제35장 시장의 잠재력이 높은 국가, 부문, 전략
AI 희귀질환 진단 시장 2029년 : 새로운 기회를 제공하는 국가
AI 희귀질환 진단 시장 2029년 : 새로운 기회를 제공하는 부문
AI 희귀질환 진단 시장 2029년 : 성장 전략
시장 동향에 기초한 전략
경쟁 전략
제36장 부록
SHW
영문 목차
영문목차
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.
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.
The artificial intelligence (AI)-powered rare disease diagnosis market research report is one of a series of new reports from The Business Research Company 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 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 $5.50 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 (2.0%) 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.
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.
Artificial Intelligence (AI)-Powered Rare Disease Diagnosis Global Market Report 2025 from The Business Research Company provides strategists, marketers and senior management with the critical information they need to assess the market.
This report focuses on artificial intelligence (ai)-powered rare disease diagnosis market which is experiencing strong growth. The report gives a guide to the trends which will be shaping the market over the next ten years and beyond.
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Where is the largest and fastest growing market for artificial intelligence (ai)-powered rare disease diagnosis ? How does the market relate to the overall economy, demography and other similar markets? What forces will shape the market going forward, including technological disruption, regulatory shifts, and changing consumer preferences? The artificial intelligence (ai)-powered rare disease diagnosis market global report from the Business Research Company answers all these questions and many more.
The report covers market characteristics, size and growth, segmentation, regional and country breakdowns, competitive landscape, market shares, trends and strategies for this market. It traces the market's historic and forecast market growth by geography.
The market characteristics section of the report defines and explains the market.
The market size section gives the market size ($b) covering both the historic growth of the market, and forecasting its development.
The forecasts are made after considering the major factors currently impacting the market. These include:
The forecasts are made after considering the major factors currently impacting the market. These include the technological advancements such as AI and automation, Russia-Ukraine war, trade tariffs (government-imposed import/export duties), elevated inflation and interest rates.
Market segmentations break down the market into sub markets.
The regional and country breakdowns section gives an analysis of the market in each geography and the size of the market by geography and compares their historic and forecast growth.
The competitive landscape chapter gives a description of the competitive nature of the market, market shares, and a description of the leading companies. Key financial deals which have shaped the market in recent years are identified.
The trends and strategies section analyses the shape of the market as it emerges from the crisis and suggests how companies can grow as the market recovers.
Scope
Markets Covered:1) By Component: Software; Hardware; Services
2) By Technology: Machine Learning; Deep Learning; Natural Language Processing; Computer Vision; Other Technologies
3) By Deployment Mode: Cloud-Based; On-Premises
4) By Diagnosis Type: Genetic Disorders; Autoimmune Disorders; Metabolic Disorders; Infectious Diseases; Other Diagnosis Types
5) By End-User: Hospitals; Diagnostic Centers; Research Institutes; Specialty Clinics; Other End-Users
Subsegments:
1) By Software: Clinical Decision Support; Data Analytics Platforms; Genomic Interpretation Tools; Machine Learning Algorithms; Diagnostic Reporting Software
4. Artificial Intelligence (AI)-Powered Rare Disease Diagnosis Market - Macro Economic Scenario Including The Impact Of Interest Rates, Inflation, Geopolitics, Trade Wars and Tariffs, And Covid And Recovery On The Market
4.1. Supply Chain Impact from Tariff War & Trade Protectionism
5. Global Artificial Intelligence (AI)-Powered Rare Disease Diagnosis Growth Analysis And Strategic Analysis Framework
5.1. Global Artificial Intelligence (AI)-Powered Rare Disease Diagnosis PESTEL Analysis (Political, Social, Technological, Environmental and Legal Factors, Drivers and Restraints)
