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市場調查報告書
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2048057

基因檢測市場－全球產業規模、佔有率、趨勢、機會、預測：按疾病類型、技術、地區和競爭格局分類，2021-2031年

Hereditary Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Disease Type, By Technology, By Region & Competition, 2021-2031F
出版日期: | 出版商: TechSci Research | 英文 182 Pages | 商品交期: 2-3個工作天內

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簡介目錄

全球基因檢測市場預計將從 2025 年的 67.3 億美元大幅成長至 2031 年的 106.1 億美元，複合年成長率為 7.88%。

基因檢測是指透過實驗室分析人類DNA、染色體或蛋白質，以識別與遺傳性疾病或疾病易感性相關的基因變異。其主要成長要素包括具有遺傳因素的慢性疾病盛行率不斷上升以及基因組定序成本的降低。這些因素正推動預防性基因篩檢融入標準醫療實踐。美國癌症協會預測，到2025年，美國將新增2,041,910例癌症病例，因此，早期風險識別的需求迫在眉睫。然而，該市場成長的主要障礙在於缺乏標準化的報銷政策和一致的基因檢測服務保險覆蓋範圍。地區間支付結構的差異造成了經濟壁壘，限制了患者獲得重要基因檢測的機會，並阻礙了醫療機構的廣泛應用。

市場概覽
預測期 2027-2031
市場規模：2025年 67.3億美元
市場規模：2031年 106.1億美元
複合年成長率：2026-2031年 7.88%
成長最快的細分市場 生物化學
最大的市場 北美洲

市場促進因素

全球遺傳疾病檢測市場正受到次世代定序(NGS) 技術快速發展的顯著推動，該技術大大提高了檢測的處理能力和可近性。基因測序平台的持續發展使實驗室能夠更快、更經濟高效地處理大量檢體，從而促進了攜帶者篩檢和產前檢測的廣泛應用。主要產業參與者已證實了這種擴充性；根據2025年2月的報告，Natera在2024年處理了約3,064,600份檢測樣本。這反映了在技術能力的支持下，檢測處理量大幅成長，使醫療服務提供者能夠將更廣泛的遺傳資訊融入日常患者照護中，並從有限的基因檢測轉向更廣泛的EXOME和基因組分析。此外，對個人化和精準醫療日益成長的需求正在推動市場擴張，尤其是在腫瘤學領域，基因譜分析對於治療方法的選擇至關重要。臨床醫生擴大利用基因和體細胞檢測來識別特定的突變，從而指南標靶治療，並確保治療方案與個別基因組特徵相符。這種向生物標記主導醫療的轉變，在精準腫瘤診斷的日益普及中得到了清晰的體現。 Guardant Health 報告稱，截至 2025 年 2 月，該公司在 2024 年進行了約 206,700 例腫瘤臨床檢測，凸顯了基因診斷在癌症管理中的關鍵作用。此外，這些服務的商業性價值在整個行業中依然強勁，Myriad Genetics 報告稱，其在 2025 年第三季的銷售額達到 2.057 億美元，這表明基因檢測領域持續的投資和價值創造勢頭強勁。

市場挑戰

全球基因檢測市場面臨的主要限制因素在於缺乏標準化的報銷政策和統一的保險覆蓋範圍。不同地區和保險公司支付模式的顯著差異，為檢測實驗室和醫療機構帶來了財務上的不確定性。這種不一致迫使醫療機構限制基因篩檢計畫的實施，因為他們無法指望獲得足夠的報銷。因此，患者往往面臨高額的自付費用和繁瑣的行政程序，這實際上阻礙了他們獲得必要的檢測。這些財務和行政障礙直接導致基因檢測數量的下降。根據美國醫學會 (AMA) 2024 年的數據，94% 的醫生表示，由於預先核准程序，必要的治療被延誤。如此高的報銷門檻阻礙了醫療服務提供者將基因檢測作為預防措施，使其主要用於高風險的診斷情況。只要保險覆蓋範圍仍然分散，核准流程仍然繁瑣，永續的市場成長和廣泛的應用就難以實現。

市場趨勢

將人工智慧 (AI) 整合到變異解讀中，從根本上改變了檢查室的工作流程，解決了高通量定序固有的數據分析瓶頸。由於識別出的遺傳變異數量龐大，遠遠超出了人工處理能力，檢查室正擴大採用機器學習演算法來自動化致病性評估，並優先處理具有臨床意義的觀察。這種做法不僅縮短了檢測週期，還維持了精準醫療發展所需的高診斷準確率。 SeqOne 公司於 2025 年 12 月發布的報告《人工智慧在臨床基因組學中的應用》指出，其人工智慧驅動的分析解決方案能夠準確識別出精簡候選清單中 96% 的診斷變異，凸顯了自動化解讀工具在臨床環境中的顯著效率和有效性。同時，市場正將關注點從傳統的癌症相關應用擴展到非腫瘤性遺傳疾病，拓寬了基因檢測的效用。臨床醫生正擴大將基因組分析應用於循環系統和藥物基因體學等領域，以實現早期療育並最佳化多種慢性疾病的藥物選擇。隨著醫療系統日益認知到預防性篩檢對多種心血管和代謝疾病的益處，不斷擴大的臨床應用範圍正在推動該細分市場的成長。根據Myread Genetics於2025年2月發布的“2024年第四季度及全年業績報告”，該季度藥物基因體學檢測銷售額成長了14%，表明基因疾病診斷在更廣泛的醫療專科領域中呈現出強勁的商業性勢頭。

目錄

第1章概述

第2章：調查方法

第3章執行摘要

第4章：客戶心聲

第5章：全球基因檢測市場展望

  • 市場規模及預測
    • 按金額
  • 市佔率及預測
    • 疾病類型（遺傳性癌症檢測、遺傳性非癌症檢測）
    • 依技術（細胞遺傳學檢測、生化檢驗、分子檢測）
    • 按地區
    • 按公司（2025 年）
  • 市場地圖

第6章：北美基因檢測市場展望

  • 市場規模及預測
  • 市佔率及預測
  • 北美洲：國別分析
    • 美國
    • 加拿大
    • 墨西哥

第7章：歐洲基因檢測市場展望

  • 市場規模及預測
  • 市佔率及預測
  • 歐洲：國別分析
    • 德國
    • 法國
    • 英國
    • 義大利
    • 西班牙

第8章：亞太地區基因檢測市場展望

  • 市場規模及預測
  • 市佔率及預測
  • 亞太地區：國別分析
    • 中國
    • 印度
    • 日本
    • 韓國
    • 澳洲

第9章：中東和非洲基因檢測市場展望

  • 市場規模及預測
  • 市佔率及預測
  • 中東與非洲：國別分析
    • 沙烏地阿拉伯
    • 阿拉伯聯合大公國
    • 南非

第10章：南美洲基因檢測市場展望

  • 市場規模及預測
  • 市佔率及預測
  • 南美洲：國別分析
    • 巴西
    • 哥倫比亞
    • 阿根廷

第11章 市場動態

  • 促進因素
  • 任務

第12章 市場趨勢與發展

  • 併購
  • 產品發布
  • 近期趨勢

第13章：全球基因檢測市場：SWOT分析

第14章：波特五力分析

  • 產業競爭
  • 新進入者的潛力
  • 供應商的議價能力
  • 顧客權力
  • 替代品的威脅

第15章 競爭格局

  • Myriad Genetics, Inc.
  • Illumina, Inc.
  • Natera, Inc.
  • Laboratory Corporation of America Holdings
  • F. Hoffmann-La Roche Ltd.
  • Quest Diagnostics Incorporated
  • COOPERSURGICAL, INC.
  • Agilent Technologies, Inc.
  • Thermo Fisher Scientific, Inc.
  • SOPHiA GENETICS SA

第16章 策略建議

第17章：關於研究公司及免責聲明

簡介目錄
Product Code: 16282

The Global Hereditary Testing Market is expected to expand significantly, growing from USD 6.73 Billion in 2025 to USD 10.61 Billion by 2031, demonstrating a Compound Annual Growth Rate (CAGR) of 7.88%. Hereditary testing involves the laboratory examination of human DNA, chromosomes, or proteins to identify genetic variations linked to inherited conditions or disease predispositions. Key growth catalysts include the increasing prevalence of chronic diseases with genetic components and the declining expenses associated with genomic sequencing. These elements facilitate the integration of preventative genetic screening into standard healthcare practices, underscored by projections of 2,041,910 new cancer cases in the United States in 2025, according to the American Cancer Society, emphasizing the urgent need for accessible early risk identification.However, a major obstacle to this market's growth is the absence of standardized reimbursement policies and consistent insurance coverage for genetic services. Varied payment structures across regions lead to financial impediments, limiting patient access to crucial hereditary tests and hindering wider adoption by medical facilities.

Market Overview
Forecast Period2027-2031
Market Size 2025USD 6.73 Billion
Market Size 2031USD 10.61 Billion
CAGR 2026-20317.88%
Fastest Growing SegmentBiochemical
Largest MarketNorth America

Market Driver

The Global Hereditary Testing Market is significantly propelled by rapid advancements in Next-Generation Sequencing (NGS) technologies, which substantially improve test throughput and accessibility. Ongoing developments in genomic sequencing platforms allow laboratories to process large quantities of samples more quickly and affordably, thereby fostering the widespread integration of carrier screening and prenatal testing. This enhanced scalability is demonstrated by key industry players, with Natera processing approximately 3,064,600 tests in 2024, as reported in February 2025, reflecting significant volume growth driven by technological capacity and enabling healthcare providers to incorporate extensive genetic insights into routine patient care, moving from narrow panels to broader exome and genome analyses.Furthermore, increasing demand for personalized medicine and precision therapeutics fuels market expansion, especially in oncology where genetic profiling is crucial for treatment selection. Clinicians are increasingly utilizing hereditary and somatic testing to pinpoint specific mutations that guide targeted therapies, ensuring treatments are customized to individual genomic profiles. This transition to biomarker-driven care is evident in the rising use of precision oncology diagnostics, with Guardant Health reporting approximately 206,700 oncology clinical tests in 2024, as of February 2025, emphasizing the vital role of genetic diagnostics in cancer management. Additionally, the commercial strength of these services is robust across the sector, with Myriad Genetics reporting third-quarter revenue of $205.7 million in 2025, highlighting sustained financial investment and value creation within the hereditary testing field.

Market Challenge

A significant constraint on the Global Hereditary Testing Market stems from the absence of standardized reimbursement policies and consistent insurance coverage. The considerable variation in payment models among different regions and insurance providers introduces substantial financial unpredictability for laboratories and medical facilities. This inconsistency compels healthcare institutions to restrict the implementation of genetic screening programs, as they cannot rely on adequate reimbursement for the expenses of these advanced diagnostic services. As a result, patients often face prohibitive out-of-pocket costs or complicated administrative procedures, effectively impeding their access to crucial testing.These financial and administrative obstacles directly contribute to a reduction in the volume of hereditary tests conducted. Data from the American Medical Association in 2024 indicates that 94% of physicians reported delays in necessary care due to prior authorization protocols. This high level of friction in the reimbursement system discourages healthcare providers from ordering hereditary tests for preventative measures, largely confining their use to high-risk diagnostic situations. Sustained market growth and widespread adoption will remain elusive as long as coverage remains fragmented and approval processes continue to be burdensome.

Market Trends

The integration of Artificial Intelligence (AI) into variant interpretation is profoundly transforming laboratory workflows by addressing the data analysis bottleneck inherent in high-throughput sequencing. As the sheer volume of identified genetic variants exceeds human curation capabilities, laboratories are increasingly deploying machine learning algorithms to automate pathogenicity assessments and prioritize clinically significant findings. This implementation not only speeds up test turnaround times but also sustains high diagnostic accuracy, which is essential for scaling precision medicine. A report from SeqOne in December 2025, 'AI in Clinical Genomics,' noted that their AI-driven analysis solution accurately identified 96% of diagnostic variants within streamlined shortlists, underscoring the substantial efficiency gains and validation of automated interpretation tools in clinical settings.Concurrently, the market is expanding its focus beyond traditional cancer applications to encompass non-oncology hereditary disease applications, thereby broadening the utility of genetic testing. Clinicians are progressively incorporating genomic profiling into fields such as cardiology and pharmacogenomics to enable earlier interventions and optimize medication choices for various chronic conditions. This expansion of clinical scope is driving segment growth as healthcare systems increasingly acknowledge the benefits of preventative screening for a diverse range of cardiovascular and metabolic disorders. Myriad Genetics' 'Fourth Quarter and Full-Year 2024 Financial Results,' released in February 2025, reported a 14% increase in pharmacogenomics testing revenue for the quarter, illustrating the strong commercial momentum of hereditary diagnostics across broader medical specialties.

Key Market Players

  • Myriad Genetics, Inc.
  • Illumina, Inc.
  • Natera, Inc.
  • Laboratory Corporation of America Holdings
  • F. Hoffmann-La Roche Ltd.
  • Quest Diagnostics Incorporated
  • COOPERSURGICAL, INC.
  • Agilent Technologies, Inc.
  • Thermo Fisher Scientific, Inc.
  • SOPHiA GENETICS SA

Report Scope

In this report, the Global Hereditary Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Hereditary Testing Market, By Disease Type

  • Hereditary Cancer Testing
  • Hereditary Non-cancer Testing

Hereditary Testing Market, By Technology

  • Cytogenetic
  • Biochemical
  • Molecular Testing

Hereditary Testing Market, By Region

  • North America
    • United States
    • Canada
    • Mexico
  • Europe
    • France
    • United Kingdom
    • Italy
    • Germany
    • Spain
  • Asia Pacific
    • China
    • India
    • Japan
    • Australia
    • South Korea
  • South America
    • Brazil
    • Argentina
    • Colombia
  • Middle East & Africa
    • South Africa
    • Saudi Arabia
    • UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Hereditary Testing Market.

Available Customizations:

Global Hereditary Testing Market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

  • Detailed analysis and profiling of additional market players (up to five).

Table of Contents

1. Product Overview

  • 1.1. Market Definition
  • 1.2. Scope of the Market
    • 1.2.1. Markets Covered
    • 1.2.2. Years Considered for Study
    • 1.2.3. Key Market Segmentations

2. Research Methodology

  • 2.1. Objective of the Study
  • 2.2. Baseline Methodology
  • 2.3. Key Industry Partners
  • 2.4. Major Association and Secondary Sources
  • 2.5. Forecasting Methodology
  • 2.6. Data Triangulation & Validation
  • 2.7. Assumptions and Limitations

3. Executive Summary

  • 3.1. Overview of the Market
  • 3.2. Overview of Key Market Segmentations
  • 3.3. Overview of Key Market Players
  • 3.4. Overview of Key Regions/Countries
  • 3.5. Overview of Market Drivers, Challenges, Trends

4. Voice of Customer

5. Global Hereditary Testing Market Outlook

  • 5.1. Market Size & Forecast
    • 5.1.1. By Value
  • 5.2. Market Share & Forecast
    • 5.2.1. By Disease Type (Hereditary Cancer Testing, Hereditary Non-cancer Testing)
    • 5.2.2. By Technology (Cytogenetic, Biochemical, Molecular Testing)
    • 5.2.3. By Region
    • 5.2.4. By Company (2025)
  • 5.3. Market Map

6. North America Hereditary Testing Market Outlook

  • 6.1. Market Size & Forecast
    • 6.1.1. By Value
  • 6.2. Market Share & Forecast
    • 6.2.1. By Disease Type
    • 6.2.2. By Technology
    • 6.2.3. By Country
  • 6.3. North America: Country Analysis
    • 6.3.1. United States Hereditary Testing Market Outlook
      • 6.3.1.1. Market Size & Forecast
        • 6.3.1.1.1. By Value
      • 6.3.1.2. Market Share & Forecast
        • 6.3.1.2.1. By Disease Type
        • 6.3.1.2.2. By Technology
    • 6.3.2. Canada Hereditary Testing Market Outlook
      • 6.3.2.1. Market Size & Forecast
        • 6.3.2.1.1. By Value
      • 6.3.2.2. Market Share & Forecast
        • 6.3.2.2.1. By Disease Type
        • 6.3.2.2.2. By Technology
    • 6.3.3. Mexico Hereditary Testing Market Outlook
      • 6.3.3.1. Market Size & Forecast
        • 6.3.3.1.1. By Value
      • 6.3.3.2. Market Share & Forecast
        • 6.3.3.2.1. By Disease Type
        • 6.3.3.2.2. By Technology

7. Europe Hereditary Testing Market Outlook

  • 7.1. Market Size & Forecast
    • 7.1.1. By Value
  • 7.2. Market Share & Forecast
    • 7.2.1. By Disease Type
    • 7.2.2. By Technology
    • 7.2.3. By Country
  • 7.3. Europe: Country Analysis
    • 7.3.1. Germany Hereditary Testing Market Outlook
      • 7.3.1.1. Market Size & Forecast
        • 7.3.1.1.1. By Value
      • 7.3.1.2. Market Share & Forecast
        • 7.3.1.2.1. By Disease Type
        • 7.3.1.2.2. By Technology
    • 7.3.2. France Hereditary Testing Market Outlook
      • 7.3.2.1. Market Size & Forecast
        • 7.3.2.1.1. By Value
      • 7.3.2.2. Market Share & Forecast
        • 7.3.2.2.1. By Disease Type
        • 7.3.2.2.2. By Technology
    • 7.3.3. United Kingdom Hereditary Testing Market Outlook
      • 7.3.3.1. Market Size & Forecast
        • 7.3.3.1.1. By Value
      • 7.3.3.2. Market Share & Forecast
        • 7.3.3.2.1. By Disease Type
        • 7.3.3.2.2. By Technology
    • 7.3.4. Italy Hereditary Testing Market Outlook
      • 7.3.4.1. Market Size & Forecast
        • 7.3.4.1.1. By Value
      • 7.3.4.2. Market Share & Forecast
        • 7.3.4.2.1. By Disease Type
        • 7.3.4.2.2. By Technology
    • 7.3.5. Spain Hereditary Testing Market Outlook
      • 7.3.5.1. Market Size & Forecast
        • 7.3.5.1.1. By Value
      • 7.3.5.2. Market Share & Forecast
        • 7.3.5.2.1. By Disease Type
        • 7.3.5.2.2. By Technology

8. Asia Pacific Hereditary Testing Market Outlook

  • 8.1. Market Size & Forecast
    • 8.1.1. By Value
  • 8.2. Market Share & Forecast
    • 8.2.1. By Disease Type
    • 8.2.2. By Technology
    • 8.2.3. By Country
  • 8.3. Asia Pacific: Country Analysis
    • 8.3.1. China Hereditary Testing Market Outlook
      • 8.3.1.1. Market Size & Forecast
        • 8.3.1.1.1. By Value
      • 8.3.1.2. Market Share & Forecast
        • 8.3.1.2.1. By Disease Type
        • 8.3.1.2.2. By Technology
    • 8.3.2. India Hereditary Testing Market Outlook
      • 8.3.2.1. Market Size & Forecast
        • 8.3.2.1.1. By Value
      • 8.3.2.2. Market Share & Forecast
        • 8.3.2.2.1. By Disease Type
        • 8.3.2.2.2. By Technology
    • 8.3.3. Japan Hereditary Testing Market Outlook
      • 8.3.3.1. Market Size & Forecast
        • 8.3.3.1.1. By Value
      • 8.3.3.2. Market Share & Forecast
        • 8.3.3.2.1. By Disease Type
        • 8.3.3.2.2. By Technology
    • 8.3.4. South Korea Hereditary Testing Market Outlook
      • 8.3.4.1. Market Size & Forecast
        • 8.3.4.1.1. By Value
      • 8.3.4.2. Market Share & Forecast
        • 8.3.4.2.1. By Disease Type
        • 8.3.4.2.2. By Technology
    • 8.3.5. Australia Hereditary Testing Market Outlook
      • 8.3.5.1. Market Size & Forecast
        • 8.3.5.1.1. By Value
      • 8.3.5.2. Market Share & Forecast
        • 8.3.5.2.1. By Disease Type
        • 8.3.5.2.2. By Technology

9. Middle East & Africa Hereditary Testing Market Outlook

  • 9.1. Market Size & Forecast
    • 9.1.1. By Value
  • 9.2. Market Share & Forecast
    • 9.2.1. By Disease Type
    • 9.2.2. By Technology
    • 9.2.3. By Country
  • 9.3. Middle East & Africa: Country Analysis
    • 9.3.1. Saudi Arabia Hereditary Testing Market Outlook
      • 9.3.1.1. Market Size & Forecast
        • 9.3.1.1.1. By Value
      • 9.3.1.2. Market Share & Forecast
        • 9.3.1.2.1. By Disease Type
        • 9.3.1.2.2. By Technology
    • 9.3.2. UAE Hereditary Testing Market Outlook
      • 9.3.2.1. Market Size & Forecast
        • 9.3.2.1.1. By Value
      • 9.3.2.2. Market Share & Forecast
        • 9.3.2.2.1. By Disease Type
        • 9.3.2.2.2. By Technology
    • 9.3.3. South Africa Hereditary Testing Market Outlook
      • 9.3.3.1. Market Size & Forecast
        • 9.3.3.1.1. By Value
      • 9.3.3.2. Market Share & Forecast
        • 9.3.3.2.1. By Disease Type
        • 9.3.3.2.2. By Technology

10. South America Hereditary Testing Market Outlook

  • 10.1. Market Size & Forecast
    • 10.1.1. By Value
  • 10.2. Market Share & Forecast
    • 10.2.1. By Disease Type
    • 10.2.2. By Technology
    • 10.2.3. By Country
  • 10.3. South America: Country Analysis
    • 10.3.1. Brazil Hereditary Testing Market Outlook
      • 10.3.1.1. Market Size & Forecast
        • 10.3.1.1.1. By Value
      • 10.3.1.2. Market Share & Forecast
        • 10.3.1.2.1. By Disease Type
        • 10.3.1.2.2. By Technology
    • 10.3.2. Colombia Hereditary Testing Market Outlook
      • 10.3.2.1. Market Size & Forecast
        • 10.3.2.1.1. By Value
      • 10.3.2.2. Market Share & Forecast
        • 10.3.2.2.1. By Disease Type
        • 10.3.2.2.2. By Technology
    • 10.3.3. Argentina Hereditary Testing Market Outlook
      • 10.3.3.1. Market Size & Forecast
        • 10.3.3.1.1. By Value
      • 10.3.3.2. Market Share & Forecast
        • 10.3.3.2.1. By Disease Type
        • 10.3.3.2.2. By Technology

11. Market Dynamics

  • 11.1. Drivers
  • 11.2. Challenges

12. Market Trends & Developments

  • 12.1. Merger & Acquisition (If Any)
  • 12.2. Product Launches (If Any)
  • 12.3. Recent Developments

13. Global Hereditary Testing Market: SWOT Analysis

14. Porter's Five Forces Analysis

  • 14.1. Competition in the Industry
  • 14.2. Potential of New Entrants
  • 14.3. Power of Suppliers
  • 14.4. Power of Customers
  • 14.5. Threat of Substitute Products

15. Competitive Landscape

  • 15.1. Myriad Genetics, Inc.
    • 15.1.1. Business Overview
    • 15.1.2. Products & Services
    • 15.1.3. Recent Developments
    • 15.1.4. Key Personnel
    • 15.1.5. SWOT Analysis
  • 15.2. Illumina, Inc.
  • 15.3. Natera, Inc.
  • 15.4. Laboratory Corporation of America Holdings
  • 15.5. F. Hoffmann-La Roche Ltd.
  • 15.6. Quest Diagnostics Incorporated
  • 15.7. COOPERSURGICAL, INC.
  • 15.8. Agilent Technologies, Inc.
  • 15.9. Thermo Fisher Scientific, Inc.
  • 15.10. SOPHiA GENETICS SA

16. Strategic Recommendations

17. About Us & Disclaimer