유전성 질환 진단 시장 규모, 점유율, 동향 분석 보고서 : 기술별, 유통 경로별, 용도별, 제품별, 최종 용도별, 지역별, 부문별 예측(2025-2033년)

Genetic Disease Diagnostics Market Summary

The global genetic disease diagnostics market size was estimated at USD 11.71 billion in 2024 and is projected to reach USD 57.83 billion by 2033, growing at a CAGR of 19.1% from 2025 to 2033. The market is primarily driven by technological advancements, increasing demand for personalized medicine, and growing demand for newborn screening..

Genetic testing in maternity care is undergoing a major transformation, driven by advancements in carrier screening, non-invasive prenatal testing (NIPT), and IVF-related genetic analyses. These innovations are fueling consistent market growth, especially across both established and emerging economies.

Pharmacogenomics testing is increasingly vital in helping clinicians choose the most effective medications and appropriate dosages for patients. The Association for Molecular Pathology (AMP) has made strides toward standardizing these tests across laboratories. In August 2022, the AMP released recommendations for designing and validating clinical genotyping assays for genes like NUDT15 and TPMT. These guidelines provide a minimum set of alleles for laboratories to identify patients who may be at a higher risk of thiopurine toxicity, thereby improving treatment safety and efficacy.

The introduction of new tests that can considerably reduce treatment costs and help lower pharmaceutical expenses by preventing overprescription and excessive dosing, while also reducing the risk of complications and hospitalizations resulting from adverse drug reactions, is expected to impact market growth positively. For instance, in October 2025, AIG Hospitals, a Hyderabad (India) based hospital, in collaboration with GenepowerRx, launched a pharmacogenomics test that would help doctors to prescribe medicines or decide on a treatment plan based on the patient's genetic makeup.

Driven primarily by advancements in Next-Generation Sequencing (NGS) technology, WGS costs are falling toward the sub-USD 100 threshold. Many companies have launched new tests based on next-generation sequencing (NGS), whole-genome sequencing, and advanced array technologies, offering higher accuracy, coverage, and rapid results. For instance, CENTOGENE launched CentoGenome Ultra-Fast, a whole-genome sequencing tool for diagnosing genetic diseases in five business days. Rapid diagnosis and early intervention facilitate timely treatment, which in turn improves patient outcomes and reduces complications in emergency cases and the ICU.

Despite these advancements, the high cost of the test may impede market growth in developing countries. Depending on the test's complexity, costs can range from under $100 to over $2,000, with higher costs associated with tests that require multiple family samples. Results may also take weeks to arrive. In some instances, health insurance covers these tests when prescribed by a medical professional, but coverage varies widely across insurers and policies.

Global Genetic Disease Diagnostics Market Report Segmentation

This report forecasts revenue growth at global, regional & country levels and provides an analysis of the industry trends in each of the sub-segments from 2021 to 2033. For this study, Grand View Research has segmented the global genetic disease diagnostics market report based on technology, application, product, channel, end use, and region:

• Technology Outlook (Revenue, USD Million, 2021 - 2033)
• Next Generation Sequencing
• Array Technology
• PCR-based Testing
• FISH
• Others
• Application Outlook (Revenue, USD Million, 2021 - 2033)
• Ancestry & Ethnicity
• Traits Screening
• Genetic Disease Carrier Status
• New Baby Screening
• Health and Wellness-Predisposition/Risk/Tendency
• Product Outlook (Revenue, USD Million, 2021 - 2033)
• Consumables
• Equipment
• Software & Services
• Channel Outlook (Revenue, USD Million, 2021 - 2033)
• Online
• Offline
• End Use Outlook (Revenue, USD Million, 2021 - 2033)
• Hospitals & Clinics
• Diagnostic Laboratories
• Others
• Regional Outlook (Revenue, USD Million, 2021 - 2033)
• North America
  • U.S.
  • Canada
  • Mexico
• Europe
  • UK
  • Germany
  • France
  • Italy
  • Spain
  • Denmark
  • Sweden
  • Norway
• Asia Pacific
  • China
  • Japan
  • India
  • Australia
  • Thailand
  • South Korea
• Latin America
  • Brazil
  • Argentina
• Middle East & Africa
  • South Africa
  • Saudi Arabia
  • UAE
  • Kuwait

Table of Contents

Chapter 1. Methodology and Scope

• 1.1. Market Segmentation & Scope
• 1.2. Segment Definitions
  • 1.2.1. Technology
  • 1.2.2. Application
  • 1.2.3. Product
  • 1.2.4. Channel
  • 1.2.5. End Use
  • 1.2.6. Regional scope
  • 1.2.7. Estimates and forecasts timeline
• 1.3. Research Methodology
• 1.4. Information Procurement
  • 1.4.1. Purchased database
  • 1.4.2. GVR's internal database
  • 1.4.3. Secondary sources
  • 1.4.4. Primary research
  • 1.4.5. Details of primary research
    • 1.4.5.1. Data for primary interviews in North America
    • 1.4.5.2. Data for primary interviews in Europe
    • 1.4.5.3. Data for primary interviews in Asia Pacific
    • 1.4.5.4. Data for primary interviews in Latin America
    • 1.4.5.5. Data for Primary interviews in MEA
• 1.5. Information or Data Analysis
  • 1.5.1. Data analysis models
• 1.6. Market Formulation & Validation
• 1.7. Model Details
  • 1.7.1. Commodity flow analysis (Model 1)
  • 1.7.2. Approach 1: Commodity flow approach
  • 1.7.3. Volume price analysis (Model 2)
  • 1.7.4. Approach 2: Volume price analysis
• 1.8. List of Secondary Sources
• 1.9. List of Primary Sources
• 1.10. Objectives

Chapter 2. Executive Summary

• 2.1. Market Outlook
• 2.2. Segment Outlook
  • 2.2.1. Technology outlook
  • 2.2.2. Application outlook
  • 2.2.3. Product outlook
  • 2.2.4. Channel outlook
  • 2.2.5. End Use outlook
  • 2.2.6. Regional outlook
• 2.3. Competitive Insights

Chapter 3. Genetic Disease Diagnostics Market Variables, Trends & Scope

• 3.1. Market Lineage Outlook
  • 3.1.1. Parent market outlook
  • 3.1.2. Related/ancillary market outlook
• 3.2. Market Dynamics
  • 3.2.1. Market driver analysis
    • 3.2.1.1. Technological Advancements in Diagnostic Testing
    • 3.2.1.2. Growing Burden of Chronic and Infection Diseases
    • 3.2.1.3. Rising Awareness and Demand for Personalized Medicine
  • 3.2.2. Market restraint analysis
    • 3.2.2.1. Required Skilled Labors
• 3.3. Genetic Disease Diagnostics Market Analysis Tools
  • 3.3.1. Industry Analysis - Porter's
    • 3.3.1.1. Supplier power
    • 3.3.1.2. Buyer power
    • 3.3.1.3. Substitution threat
    • 3.3.1.4. Threat of new entrant
    • 3.3.1.5. Competitive rivalry
  • 3.3.2. PESTEL Analysis
    • 3.3.2.1. Political landscape
    • 3.3.2.2. Technological landscape
    • 3.3.2.3. Economic landscape

Chapter 4. Genetic Disease Diagnostics Market: Technology Estimates & Trend Analysis

• 4.1. Technology Market Share, 2024 & 2033
• 4.2. Segment Dashboard
• 4.3. Global Genetic Disease Diagnostics Market by Technology Outlook
• 4.4. Market Size & Forecasts and Trend Analyses, 2021 to 2033, for the following
  • 4.4.1. Next-Generation Sequencing
    • 4.4.1.1. Market estimates and forecasts, 2021 - 2033 (USD million)
  • 4.4.2. Array Technology
    • 4.4.2.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 4.4.3. PCR - Based Testing
    • 4.4.3.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 4.4.4. FISH
    • 4.4.4.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 4.4.5. Others
    • 4.4.5.1. Market estimates and forecasts, 2021 - 2033 (USD Million)

Chapter 5. Genetic Disease Diagnostics Market: Application Estimates & Trend Analysis

• 5.1. Application Market Share, 2024 & 2033
• 5.2. Segment Dashboard
• 5.3. Global Genetic Disease Diagnostics Market by Application Outlook
• 5.4. Market Size & Forecasts and Trend Analyses, 2021 to 2033, for the following
  • 5.4.1. Ancestry & Ethnicity
    • 5.4.1.1. Market estimates and forecasts, 2021 - 2033 (USD million)
  • 5.4.2. Traits Screening
    • 5.4.2.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 5.4.3. Genetic Disease Carrier Status
    • 5.4.3.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 5.4.4. New Baby Screening
    • 5.4.4.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 5.4.5. Health and Wellness - Predisposition/ Risk/tendency
    • 5.4.5.1. Market estimates and forecasts, 2021 - 2033 (USD Million)

Chapter 6. Genetic Disease Diagnostics Market: Product Estimates & Trend Analysis

• 6.1. Product Market Share, 2024 & 2033
• 6.2. Segment Dashboard
• 6.3. Global Genetic Disease Diagnostics Market by Product Outlook
• 6.4. Market Size & Forecasts and Trend Analyses, 2021 to 2033, for the following
  • 6.4.1. Consumables
    • 6.4.1.1. Market estimates and forecasts, 2021 - 2033 (USD million)
  • 6.4.2. Equipment
    • 6.4.2.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 6.4.3. Software & Services
    • 6.4.3.1. Market estimates and forecasts, 2021 - 2033 (USD Million)

Chapter 7. Genetic Disease Diagnostics Market: Channel Estimates & Trend Analysis

• 7.1. Channel Market Share, 2024 & 2033
• 7.2. Segment Dashboard
• 7.3. Global Genetic Disease Diagnostics Market by Channel Outlook
• 7.4. Market Size & Forecasts and Trend Analyses, 2021 to 2033, for the following
  • 7.4.1. Online
    • 7.4.1.1. Market estimates and forecasts, 2021 - 2033 (USD million)
  • 7.4.2. Offline
    • 7.4.2.1. Market estimates and forecasts, 2021 - 2033 (USD Million)

Chapter 8. Genetic Disease Diagnostics Market: End Use Estimates & Trend Analysis

• 8.1. End Use Market Share, 2024 & 2033
• 8.2. Segment Dashboard
• 8.3. Global Genetic Disease Diagnostics Market by End Use Outlook
• 8.4. Market Size & Forecasts and Trend Analyses, 2021 to 2033, for the following
  • 8.4.1. Hospitals & Clinics
    • 8.4.1.1. Market estimates and forecasts, 2021 - 2033 (USD million)
  • 8.4.2. Diagnostic Laboratories
    • 8.4.2.1. Market estimates and forecasts, 2021 - 2033 (USD Million)
  • 8.4.3. Others
    • 8.4.3.1. Market estimates and forecasts, 2021 - 2033 (USD Million)

Chapter 9. Genetic Disease Diagnostics Market: Regional Estimates & Trend Analysis

• 9.1. Regional Market Share Analysis, 2024 & 2033
• 9.2. Regional Market Dashboard
• 9.3. Global Regional Market Snapshot
• 9.4. Market Size & Forecasts Trend Analysis, 2021 to 2033:
• 9.5. North America
  • 9.5.1. U.S.
    • 9.5.1.1. Key country dynamics
    • 9.5.1.2. Regulatory framework/ reimbursement structure
    • 9.5.1.3. Competitive scenario
    • 9.5.1.4. U.S. market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.5.2. Canada
    • 9.5.2.1. Key country dynamics
    • 9.5.2.2. Regulatory framework/ reimbursement structure
    • 9.5.2.3. Competitive scenario
    • 9.5.2.4. Canada market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.5.3. Mexico
    • 9.5.3.1. Key country dynamics
    • 9.5.3.2. Regulatory framework/ reimbursement structure
    • 9.5.3.3. Competitive scenario
    • 9.5.3.4. Mexico market estimates and forecasts, 2021 - 2033 (USD Million)
• 9.6. Europe
  • 9.6.1. UK
    • 9.6.1.1. Key country dynamics
    • 9.6.1.2. Regulatory framework/ reimbursement structure
    • 9.6.1.3. Competitive scenario
    • 9.6.1.4. UK market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.6.2. Germany
    • 9.6.2.1. Key country dynamics
    • 9.6.2.2. Regulatory framework/ reimbursement structure
    • 9.6.2.3. Competitive scenario
    • 9.6.2.4. Germany market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.6.3. France
    • 9.6.3.1. Key country dynamics
    • 9.6.3.2. Regulatory framework/ reimbursement structure
    • 9.6.3.3. Competitive scenario
    • 9.6.3.4. France market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.6.4. Italy
    • 9.6.4.1. Key country dynamics
    • 9.6.4.2. Regulatory framework/ reimbursement structure
    • 9.6.4.3. Competitive scenario
    • 9.6.4.4. Italy market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.6.5. Spain
    • 9.6.5.1. Key country dynamics
    • 9.6.5.2. Regulatory framework/ reimbursement structure
    • 9.6.5.3. Competitive scenario
    • 9.6.5.4. Spain market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.6.6. Norway
    • 9.6.6.1. Key country dynamics
    • 9.6.6.2. Regulatory framework/ reimbursement structure
    • 9.6.6.3. Competitive scenario
    • 9.6.6.4. Norway market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.6.7. Sweden
    • 9.6.7.1. Key country dynamics
    • 9.6.7.2. Regulatory framework/ reimbursement structure
    • 9.6.7.3. Competitive scenario
    • 9.6.7.4. Sweden market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.6.8. Denmark
    • 9.6.8.1. Key country dynamics
    • 9.6.8.2. Regulatory framework/ reimbursement structure
    • 9.6.8.3. Competitive scenario
    • 9.6.8.4. Denmark market estimates and forecasts, 2021 - 2033 (USD Million)
• 9.7. Asia Pacific
  • 9.7.1. Japan
    • 9.7.1.1. Key country dynamics
    • 9.7.1.2. Regulatory framework/ reimbursement structure
    • 9.7.1.3. Competitive scenario
    • 9.7.1.4. Japan market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.7.2. China
    • 9.7.2.1. Key country dynamics
    • 9.7.2.2. Regulatory framework/ reimbursement structure
    • 9.7.2.3. Competitive scenario
    • 9.7.2.4. China market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.7.3. India
    • 9.7.3.1. Key country dynamics
    • 9.7.3.2. Regulatory framework/ reimbursement structure
    • 9.7.3.3. Competitive scenario
    • 9.7.3.4. India market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.7.4. Australia
    • 9.7.4.1. Key country dynamics
    • 9.7.4.2. Regulatory framework/ reimbursement structure
    • 9.7.4.3. Competitive scenario
    • 9.7.4.4. Australia market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.7.5. South Korea
    • 9.7.5.1. Key country dynamics
    • 9.7.5.2. Regulatory framework/ reimbursement structure
    • 9.7.5.3. Competitive scenario
    • 9.7.5.4. South Korea market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.7.6. Thailand
    • 9.7.6.1. Key country dynamics
    • 9.7.6.2. Regulatory framework/ reimbursement structure
    • 9.7.6.3. Competitive scenario
    • 9.7.6.4. Thailand market estimates and forecasts, 2021 - 2033 (USD Million)
• 9.8. Latin America
  • 9.8.1. Brazil
    • 9.8.1.1. Key country dynamics
    • 9.8.1.2. Regulatory framework/ reimbursement structure
    • 9.8.1.3. Competitive scenario
    • 9.8.1.4. Brazil market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.8.2. Argentina
    • 9.8.2.1. Key country dynamics
    • 9.8.2.2. Regulatory framework/ reimbursement structure
    • 9.8.2.3. Competitive scenario
    • 9.8.2.4. Argentina market estimates and forecasts, 2021 - 2033 (USD Million)
• 9.9. MEA
  • 9.9.1. South Africa
    • 9.9.1.1. Key country dynamics
    • 9.9.1.2. Regulatory framework/ reimbursement structure
    • 9.9.1.3. Competitive scenario
    • 9.9.1.4. South Africa market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.9.2. Saudi Arabia
    • 9.9.2.1. Key country dynamics
    • 9.9.2.2. Regulatory framework/ reimbursement structure
    • 9.9.2.3. Competitive scenario
    • 9.9.2.4. Saudi Arabia market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.9.3. UAE
    • 9.9.3.1. Key country dynamics
    • 9.9.3.2. Regulatory framework/ reimbursement structure
    • 9.9.3.3. Competitive scenario
    • 9.9.3.4. UAE market estimates and forecasts, 2021 - 2033 (USD Million)
  • 9.9.4. Kuwait
    • 9.9.4.1. Key country dynamics
    • 9.9.4.2. Regulatory framework/ reimbursement structure
    • 9.9.4.3. Competitive scenario
    • 9.9.4.4. Kuwait market estimates and forecasts, 2021 - 2033 (USD Million)

Chapter 10. Competitive Landscape

• 10.1. Recent Developments & Impact Analysis, By Key Market Participants
• 10.2. Company/Competition Categorization
• 10.3. Vendor Landscape
  • 10.3.1. List of key distributors and channel partners
  • 10.3.2. Key customers
  • 10.3.3. Key company market share analysis, 2024
  • 10.3.4. 24 genetics
    • 10.3.4.1. Company overview
    • 10.3.4.2. Financial performance
    • 10.3.4.3. Product benchmarking
    • 10.3.4.4. Strategic initiatives
  • 10.3.5. Circle DNA
    • 10.3.5.1. Company overview
    • 10.3.5.2. Financial performance
    • 10.3.5.3. Product benchmarking
    • 10.3.5.4. Strategic initiatives
  • 10.3.6. TellmeGen
    • 10.3.6.1. Company overview
    • 10.3.6.2. Financial performance
    • 10.3.6.3. Product benchmarking
    • 10.3.6.4. Strategic initiatives
  • 10.3.7. 23andme
    • 10.3.7.1. Company overview
    • 10.3.7.2. Financial performance
    • 10.3.7.3. Product benchmarking
    • 10.3.7.4. Strategic initiatives
  • 10.3.8. AncestryDNA
    • 10.3.8.1. Company overview
    • 10.3.8.2. Financial performance
    • 10.3.8.3. Product benchmarking
    • 10.3.8.4. Strategic initiatives
  • 10.3.9. MyDNA
    • 10.3.9.1. Company overview
    • 10.3.9.2. Financial performance
    • 10.3.9.3. Product benchmarking
    • 10.3.9.4. Strategic initiatives
  • 10.3.10. Igenomix
    • 10.3.10.1. Company overview
    • 10.3.10.2. Financial performance
    • 10.3.10.3. Product benchmarking
    • 10.3.10.4. Strategic initiatives
  • 10.3.11. Myriad Genetics, Inc
    • 10.3.11.1. Company overview
    • 10.3.11.2. Financial performance
    • 10.3.11.3. Product benchmarking
    • 10.3.11.4. Strategic initiatives
  • 10.3.12. Illumina, Inc.
    • 10.3.12.1. Company overview
    • 10.3.12.2. Financial performance
    • 10.3.12.3. Product benchmarking
    • 10.3.12.4. Strategic initiatives
  • 10.3.13. MyHeritage Ltd.
    • 10.3.13.1. Company overview
    • 10.3.13.2. Financial performance
    • 10.3.13.3. Product benchmarking
    • 10.3.13.4. Strategic initiatives
  • 10.3.14. Everly Well.
    • 10.3.14.1. Company overview
    • 10.3.14.2. Financial performance
    • 10.3.14.3. Product benchmarking
    • 10.3.14.4. Strategic initiatives
  • 10.3.15. VitaGen
    • 10.3.15.1. Company overview
    • 10.3.15.2. Financial performance
    • 10.3.15.3. Product benchmarking
    • 10.3.15.4. Strategic initiatives
  • 10.3.16. Mapmygenome
    • 10.3.16.1. Company overview
    • 10.3.16.2. Financial performance
    • 10.3.16.3. Product benchmarking
    • 10.3.16.4. Strategic initiatives
  • 10.3.17. Helix OpCo LLC
    • 10.3.17.1. Company overview
    • 10.3.17.2. Financial performance
    • 10.3.17.3. Product benchmarking
    • 10.3.17.4. Strategic initiatives
  • 10.3.18. Color Genomics, Inc.
    • 10.3.18.1. Company overview
    • 10.3.18.2. Financial performance
    • 10.3.18.3. Product benchmarking
    • 10.3.18.4. Strategic initiatives
  • 10.3.19. Amgen, Inc.
    • 10.3.19.1. Company overview
    • 10.3.19.2. Financial performance
    • 10.3.19.3. Product benchmarking
    • 10.3.19.4. Strategic initiatives
  • 10.3.20. Beyond Nutrition Health and Wellness Services DMCC.
    • 10.3.20.1. Company overview
    • 10.3.20.2. Financial performance
    • 10.3.20.3. Product benchmarking
    • 10.3.20.4. Strategic initiatives