세계의 희귀질환 진단 시장 보고서(2025년)
Rare Disease Diagnostics Global Market Report 2025
상품코드 : 1824452
리서치사 : The Business Research Company
발행일 : On Demand Report
페이지 정보 : 영문 250 Pages
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한글목차

희귀질환 진단 시장 규모는 향후 수년간 급성장할 것으로 전망됩니다. 2029년 연평균 복합 성장률(CAGR) 10.1%로 560억 8,000만 달러로 성장할 것으로 예상됩니다. 예측기간의 성장은 희귀질환의 유병률 증가, 정부 이니셔티브 증가, 병원 및 진단 실험실 수 증가, 혈액 질환 증가, 헬스케어 인프라 증가로 인한 것으로 예측됩니다. 예측 기간의 주요 동향으로는 유전자 검사 기술의 진보, 전체 유전체 시퀀싱과 차세대 시퀀싱(NGS)의 도입, 연구 이니셔티브를 위한 대규모 투자와 전략적 공동 연구 등이 있습니다.

향후 5년간의 성장률 10.1%라고 하는 예측은 전회의 예측으로부터 0.2%의 소폭 감소를 반영하고 있습니다. 이 감소는 주로 미국과 다른 국가 간의 관세의 영향 때문입니다. 관세 상승은 영국과 한국에서 조달하는 차세대 시퀀싱 패널과 CRISPR 기반 검출 키트의 비용을 늘리고 진단 지연을 악화시키고 유전자 검사 비용을 높여 미국 공급자에게 부담을 줄 가능성이 높습니다. 또한 상호관세와 무역의 긴장과 한계 증가로 인한 세계경제와 무역에 대한 악영향으로 인해 그 영향이 더욱 광범위해질 것으로 보입니다.

희귀질환 진단 시장은 희귀질환의 이환율이 증가함에 따라 성장하는 태세에 있습니다. 희귀질환은 집단에서의 유병률이 낮은 것이 특징이며, 효과적인 관리, 잠재적인 치료법의 식별, 불필요한 치료의 회피를 위해 전문적인 진단이 필요합니다. 예를 들어, 2021년 2월 국제 골다공증 재단(IOF)이 발표한 데이터에 따르면, 희귀 질병을 앓고 있는 사람은 세계에서 3억명을 넘고 있으며, 세계 인구의 3.5%에서 5.9%가 이환되고 있습니다. 또한 헬스매치는 2022년 11월에 미국과 유럽에는 인구 10만명당 60-80명의 유병률을 가진 약 150개의 희귀신장병이 있다고 보고했습니다. 따라서, 희귀질환의 발생률의 상승이 희귀질환 진단 시장의 성장의 원동력이 되고 있습니다.

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

제6장 시장 세분화

제7장 지역별/국가별 분석

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

제31장 기타 주요 기업 및 혁신 기업

제32장 세계 시장 경쟁 벤치마킹과 대시보드

제33장 주요 인수합병(M&A)

제34장 최근 시장 동향

제35장 시장의 잠재력이 높은 국가, 부문, 전략

제36장 부록

SHW
영문 목차

영문목차

Rare disease diagnostics involves the identification and diagnosis of medical conditions that are considered rare or uncommon. These diagnostics play a crucial role in early detection and diagnosis, aiding in the selection of targeted and personalized treatment plans for uncommon disorders.

The primary tests included in rare disease diagnostics are genetic tests, general lab tests, and imaging tests. Genetic tests are laboratory procedures that examine chromosomes, genes, or gene expression in human cells or tissue. Various technologies, including capillary sequencing, whole genome sequencing, whole exome sequencing, and microarrays, utilize different samples such as DNA samples, buccal swab samples, blood, and saliva for the diagnosis of various diseases. These diseases include gastroenterology diseases, endocrine and metabolism disorders, hematology and oncology diseases, dermatology diseases, cardiovascular disorders, and neurology diseases. Rare disease diagnostics are employed by various end-users, including hospital laboratories, diagnostics laboratories, genetic testing laboratories, and cancer research laboratories.

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 sharp rise in U.S. tariffs and the resulting trade tensions in spring 2025 are having a significant impact on the healthcare sector, especially in the supply of essential medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are grappling with higher costs for imported surgical tools, imaging systems, and consumables like syringes and catheters, many of which have limited domestic substitutes. These escalating expenses are putting pressure on healthcare budgets, prompting some providers to delay equipment upgrades or pass increased costs on to patients. Furthermore, tariffs on raw materials and components are disrupting the manufacturing of vital drugs and devices, leading to supply chain delays. In response, the industry is adopting diversified sourcing strategies, expanding local production where feasible, and pushing for tariff exemptions on critical medical products.

The rare disease diagnostics market research report is one of a series of new reports from The Business Research Company that provides rare disease diagnostics market statistics, including rare disease diagnostics industry global market size, regional shares, competitors with a rare disease diagnostics market share, detailed rare disease diagnostics market segments, market trends and opportunities, and any further data you may need to thrive in the rare disease diagnostics industry. This rare disease diagnostics market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

The rare disease diagnostics market size has grown strongly in recent years. It will grow from $35.23 billion in 2024 to $38.14 billion in 2025 at a compound annual growth rate (CAGR) of 8.3%. The growth in the historic period can be attributed to the rise in demand for cloud-based diagnostics, increased focus on improving efficiency, increased prevalence of neurological disease, increased immunological disorders, increased healthcare spending.

The rare disease diagnostics market size is expected to see rapid growth in the next few years. It will grow to $56.08 billion in 2029 at a compound annual growth rate (CAGR) of 10.1%. The growth in the forecast period can be attributed to increasing prevalence of rare diseases, increasing government initiatives, increasing number of hospitals and diagnostic laboratories, growing hematology diseases, increasing healthcare infrastructure. Major trends in the forecast period include advancements in genetic testing technologies, introduction of whole-genome sequencing and next-generation sequencing (NGS), extensive investments, strategic collaborations for research initiatives.

The forecast of 10.1% growth over the next five years reflects a slight reduction of 0.2% from the previous projection. This reduction is primarily due to the impact of tariffs between the US and other countries. Tariff escalations are likely to burden U.S. providers by driving up the cost of next-generation sequencing panels and CRISPR-based detection kits sourced from the UK and South Korea, exacerbating diagnostic delays and raising genetic testing expenses. The effect will also be felt more widely due to reciprocal tariffs and the negative effect on the global economy and trade due to increased trade tensions and restrictions.

The rare disease diagnostics market is poised for growth, driven by the increasing incidence of rare diseases. Rare diseases, characterized by their low prevalence in the population, necessitate specialized diagnostics for effective management, identification of potential therapeutics, and avoidance of unnecessary treatments. For instance, data from the International Osteoporosis Foundation (IOF) in February 2021 highlighted that over 300 million people worldwide suffer from rare diseases, affecting 3.5% to 5.9% of the global population. Additionally, Health Match reported in November 2022 that there are approximately 150 rare kidney ailments with a prevalence of 60-80 incidences per 100,000 people in America and Europe. Hence, the rising incidence of rare diseases is a driving force for the growth of the rare disease diagnostics market.

The growing aging population is another factor propelling the expansion of the rare disease diagnostics market. With an aging population, there is an increased need for early identification and personalized treatment approaches facilitated by rare disease diagnostics. According to The United States Census Bureau's June 2023 report, the median age in the United States rose to 38.9 years in 2022, indicating a continuous aging trend in the population. This demographic shift is contributing to the growth of the rare disease diagnostics market by improving the overall management of health conditions in the elderly.

Advancements in technology have become a prominent trend in the rare disease diagnostics market, with major companies adopting new technologies to sustain their market position. For example, in April 2023, Centogene GmbH introduced CentoGenome, a whole genome sequencing solution designed for diagnosing rare and neurodegenerative diseases. This advanced next-generation sequencing (NGS)-based assay covers a wide range of disease-causing variants, offering a comprehensive approach to rare disease diagnostics.

Major companies in the rare disease diagnostics market are also focusing on developing innovative products, such as genetic testing, to enhance their market share. Genetic testing for rare cancers involves using advanced genetic analysis techniques to identify and understand genetic components associated with these diseases. Illumina, a biotechnology company, launched the TruSight Oncology Comprehensive test kit in March 2022, which analyzes 517 cancer-related genes across nearly 30 solid tumor types in a single tissue sample.

In April 2022, Sema4 Holding Corp., a patient-centered health intelligence company, acquired GeneDx for $623 million. This strategic acquisition is expected to bolster Sema4's AI-driven genomic and clinical data analytics platform. GeneDx is a genomic testing service provider specializing in the diagnosis of rare and ultra-rare pediatric genetic illnesses.

Major companies operating in the rare disease diagnostics market include Thermo Fisher Scientific Inc., Roche Diagnostics, Laboratory Corporation of America Holdings, Quest Diagnostics Incorporated, Astellas Pharma Inc., Eurofins Scientific SE, Agilent Technologies Inc., PerkinElmer Inc., Sanofi Genzyme, Illumina Inc., Bio-Rad Laboratories Inc., Qiagen NV, BioMarin Pharmaceutical Inc., OPKO Health Inc., Sarepta Therapeutics Inc., Natera Inc., Invitae Corporation, Ultragenyx Pharmaceutical Inc., Travere Therapeutics Inc., BGI Genomics Co. Ltd., 23andMe Holding Co., Ambry Genetics Corporation, Centogene N.V., GENEWIZ Inc., Blueprint Genetics Inc., Oxford Gene Technology Limited, Strand Life Sciences Pvt. Ltd., Agios Pharmaceuticals Inc., Orphazyme A/S, RareCyte Inc.

North America was the largest region in the rare disease diagnostics market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in the rare disease diagnostics market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa

The countries covered in the rare disease diagnostics market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Italy, Spain, Canada.

The rare disease diagnostics market consists of revenues earned by entities by providing services such as clinical evaluation, parallel sequencing, targeted sequencing, laboratory testing, and specialist consultation. The market value includes the value of related goods sold by the service provider or included within the service offering. The rare disease diagnostics market also includes sales of vision evaluation instruments, blood pressure cuffs, cardiac monitors, and advanced imaging equipment. 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.

Rare Disease Diagnostics 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 rare disease diagnostics 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.

Reasons to Purchase

Where is the largest and fastest growing market for rare disease diagnostics ? 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 rare disease diagnostics 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 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.

Scope

Table of Contents

1. Executive Summary

2. Rare Disease Diagnostics Market Characteristics

3. Rare Disease Diagnostics Market Trends And Strategies

4. Rare Disease Diagnostics Market - Macro Economic Scenario Including The Impact Of Interest Rates, Inflation, Geopolitics, Trade Wars and Tariffs, And Covid And Recovery On The Market

5. Global Rare Disease Diagnostics Growth Analysis And Strategic Analysis Framework

6. Rare Disease Diagnostics Market Segmentation

7. Rare Disease Diagnostics Market Regional And Country Analysis

8. Asia-Pacific Rare Disease Diagnostics Market

9. China Rare Disease Diagnostics Market

10. India Rare Disease Diagnostics Market

11. Japan Rare Disease Diagnostics Market

12. Australia Rare Disease Diagnostics Market

13. Indonesia Rare Disease Diagnostics Market

14. South Korea Rare Disease Diagnostics Market

15. Western Europe Rare Disease Diagnostics Market

16. UK Rare Disease Diagnostics Market

17. Germany Rare Disease Diagnostics Market

18. France Rare Disease Diagnostics Market

19. Italy Rare Disease Diagnostics Market

20. Spain Rare Disease Diagnostics Market

21. Eastern Europe Rare Disease Diagnostics Market

22. Russia Rare Disease Diagnostics Market

23. North America Rare Disease Diagnostics Market

24. USA Rare Disease Diagnostics Market

25. Canada Rare Disease Diagnostics Market

26. South America Rare Disease Diagnostics Market

27. Brazil Rare Disease Diagnostics Market

28. Middle East Rare Disease Diagnostics Market

29. Africa Rare Disease Diagnostics Market

30. Rare Disease Diagnostics Market Competitive Landscape And Company Profiles

31. Rare Disease Diagnostics Market Other Major And Innovative Companies

32. Global Rare Disease Diagnostics Market Competitive Benchmarking And Dashboard

33. Key Mergers And Acquisitions In The Rare Disease Diagnostics Market

34. Recent Developments In The Rare Disease Diagnostics Market

35. Rare Disease Diagnostics Market High Potential Countries, Segments and Strategies

36. Appendix

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