캐리어 스크리닝 시장 규모, 점유율과 동향 분석 리포트 : 질환별, 유형별, 기술별, 용도별, 지역별, 부문 예측(2025-2033년)

Carrier Screening Market Summary

The global carrier screening market size was estimated at USD 1,532.24 million in 2024 and is projected to reach USD 4,045.29 million by 2033, growing at a CAGR of 11.95% from 2025 to 2033. The rising prevalence of genetic disorders, technological advancements in genetic testing, growing awareness, and demand for personalized medicine are major factors driving the market's growth.

For instance, according to the World Health Organization, around 10 in every 1,000 individuals are affected by rare single-gene disorders, translating to between 70 million and 80 million people worldwide living with such conditions. Sickle cell disease (SCD) alone impacts more than 100,000 people in the U.S., with a particularly high prevalence among people of African American origin.

The growing technological advancement in screening techniques, particularly in next-generation sequencing (NGS) and bioinformatics, has transformed the carrier screening market by improving accuracy, speed, and affordability. Traditional genetic screening tests typically focused on a limited set of conditions, targeting specific populations or high-risk groups. In contrast, modern NGS-based panels screen hundreds of genetic mutations in a single run, providing a much broader and more comprehensive assessment. For instance, in February 2025, F. Hoffmann-La Roche AG (Switzerland) introduced a new category of next-generation sequencing by expansion (SBX) technology, which is playing a vital role in decoding complex diseases like cancer, immune disorders and neurodegenerative conditions. This technology uses high throughput sensor module along with synthetic molecules in order to determine the DNA sequence of a target molecule.

Moreover, the expansion of the carrier screening industry is propelled by rising awareness of genetic risks and the global shift toward personalized medicine. Individuals and couples are becoming increasingly proactive in managing reproductive health, seeking genetic counseling along with screening. This reflects a growing understanding that carrier status has direct implications for family planning, pregnancy outcomes, and the health of future generations.

The foundation of carrier screening lies in raising awareness to improve health outcomes through early detection programs. Early programs such as Tay-Sachs disease screening in Ashkenazi Jewish communities demonstrated how education and testing could drastically reduce disease prevalence. Similarly, community-driven sickle cell screening efforts in African American populations underscored the importance of proactive engagement, though later government-led initiatives revealed the risks of poor implementation and misinformation. These historical lessons emphasize a broader trend toward personalized medicine, where individuals and communities increasingly seek genetic insights to make informed reproductive and healthcare decisions.

However, one of the major challenges in the market emerges as traditional short-read NGS struggles with complex regions of the genome, including repeat expansions, structural variants, methylation signatures, and high-homology genes. To address these gaps, innovations such as highly accurate long-read sequencing, including HiFi technologies, are emerging. For instance, in September 2025, PacBio launched its expanded PureTarget portfolio for high-throughput carrier screening, powered by HiFi sequencing technology. The solutions streamline workflows by consolidating multiple assays into a single scalable test, enabling accurate analysis of challenging genes.

Global Carrier Screening Market Report Segmentation

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest trends in each of the sub-segments from 2021 to 2033. For this study, Grand View Research has segmented the global carrier screening market report based on medical conditions, type, technology, end-use, and region:

• Medical Conditions Outlook (Revenue, USD Million, 2021 - 2033)
• Spinal Muscular Atrophy
• Cystic Fibrosis
• Tay-Sachs
• Gaucher Disease
• Sickle Cell Disease
• Others
• Type Outlook (Revenue, USD Million, 2021 - 2033)
• Expanded Carrier Screening
• Targeted Disease Carrier Screening
• Technology Outlook (Revenue, USD Million, 2021 - 2033)
• DNA Sequencing
• Polymerase Chain Reaction
• Microarrays
• Other Technologies (MLPA, Genotyping, Enzyme Screening)
• End-use Outlook (Revenue, USD Million, 2021 - 2033)
• Hospitals
• Laboratories
• Physician Offices & Clinics
• Other End Users
• Regional Outlook (Revenue, USD Million, 2021 - 2033)
• North America
  • U.S.
  • Canada
  • Mexico
• Europe
  • UK
  • Germany
  • France
  • Italy
  • Spain
  • Denmark
  • Sweden
  • Norway
• Asia Pacific
  • Japan
  • China
  • India
  • Australia
  • South Korea
  • Thailand
• Latin America
  • Brazil
  • Argentina
• Middle East & Africa
  • South Africa
  • Saudi Arabia
  • UAE
  • Kuwait

Table of Contents

Chapter 1. Carrier Screening Market: Methodology and Scope

• 1.1. Market Segmentation and Scope
  • 1.1.1. Segment Definitions
    • 1.1.1.1. Medical Conditions
    • 1.1.1.2. Type Segment
    • 1.1.1.3. Technology Segment
    • 1.1.1.4. End Use Segment
• 1.2. Regional Scope
• 1.3. Estimates and Forecast Timeline
• 1.4. Objectives
  • 1.4.1. Objective - 1
  • 1.4.2. Objective - 2
  • 1.4.3. Objective - 3
• 1.5. Research Methodology
• 1.6. Information Procurement
  • 1.6.1. Purchased Database
  • 1.6.2. GVR's Internal Database
  • 1.6.3. Secondary Sources
  • 1.6.4. Primary Research
• 1.7. Information or Data Analysis
  • 1.7.1. Data Analysis Models
• 1.8. Market Formulation & Validation
• 1.9. Model Details
  • 1.9.1. Commodity Flow Analysis
• 1.10. List of Secondary Sources
• 1.11. List of Abbreviations

Chapter 2. Carrier Screening Market: Executive Summary

• 2.1. Market Snapshot
• 2.2. Medical Conditions
• 2.3. Type Snapshot
• 2.4. Technology Snapshot
• 2.5. End use Snapshot
• 2.6. Competitive Landscape Snapshot

Chapter 3. Carrier Screening Market Variables, Trends, & Scope

• 3.1. Market Segmentation and Scope
• 3.2. Market Lineage Outlook
  • 3.2.1. Parent Market Outlook
  • 3.2.2. Related/Ancillary Market Outlook
• 3.3. Market Dynamics
• 3.4. Market Drivers Analysis
  • 3.4.1. Rising prevalence of genetic disorders
  • 3.4.2. Technological advancements in genetic testing
  • 3.4.3. Growing awareness and demand for personalized medicine
• 3.5. Market Restraint Analysis
  • 3.5.1. Limited implementation of public health screening
• 3.6. Porter's Five Forces Analysis
• 3.7. PESTLE Analysis
• 3.8. Pipeline Analysis

Chapter 4. Carrier Screening Market: Medical Conditions Estimates & Trend Analysis

• 4.1. Carrier Screening Market: Medical Conditions Movement Analysis
• 4.2. Spinal Muscular Atrophy
  • 4.2.1. Market Estimates and Forecasts, 2021 - 2033 (USD Million)
• 4.3. Cystic Fibrosis
  • 4.3.1. Market Estimates and Forecasts, 2021 - 2033 (USD Million)
• 4.4. Tay-Sachs
  • 4.4.1. Market Estimates and Forecasts, 2021 - 2033 (USD Million)
• 4.5. Gaucher Disease
  • 4.5.1. Market Estimates and Forecasts, 2021 - 2033 (USD Million)
• 4.6. Sickle Cell Disease
  • 4.6.1. Market Estimates and Forecasts, 2021 - 2033 (USD Million)
• 4.7. Others
  • 4.7.1. Market Estimates and Forecasts, 2021 - 2033 (USD Million)

Chapter 5. Carrier Screening Market: Type Estimates & Trend Analysis

• 5.1. Carrier Screening Market: Type Movement Analysis
• 5.2. Expanded Carrier Screening
  • 5.2.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)
• 5.3. Targeted Disease Carrier Screening
  • 5.3.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)

Chapter 6. Carrier Screening Market: Technology Estimates & Trend Analysis

• 6.1. Carrier Screening Market: End Use Movement Analysis
• 6.2. DNA Sequencing
  • 6.2.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)
• 6.3. Polymerase Chain Reaction
  • 6.3.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)
• 6.4. Microarrays
  • 6.4.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)
• 6.5. Other Technologies (MLPA, Genotyping, Enzyme Screening)
  • 6.5.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)

Chapter 7. Carrier Screening Market: End Use Estimates & Trend Analysis

• 7.1. Carrier Screening Market: End Use Movement Analysis
• 7.2. Hospitals
  • 7.2.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)
• 7.3. Laboratories
  • 7.3.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)
• 7.4. Physician Offices & Clinics
  • 7.4.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)
• 7.5. Other End Users
  • 7.5.1. Market Revenue Estimates and Forecasts, 2021 - 2033 (USD Million)

Chapter 8. Carrier Screening Market: Regional Business Analysis

• 8.1. Regional Market Snapshot
• 8.2. North America
  • 8.2.1. North America Carrier Screening Market Estimates And Forecast, 2021 - 2033 (USD Million)
  • 8.2.2. U.S.
    • 8.2.2.1. U.S. Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.2.2.2. Key Country Dynamics
    • 8.2.2.3. Regulatory Framework
    • 8.2.2.4. Reimbursement Scenario
    • 8.2.2.5. Competitive Scenario
  • 8.2.3. Canada
    • 8.2.3.1. Canada Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.2.3.2. Key Country Dynamics
    • 8.2.3.3. Regulatory Framework
    • 8.2.3.4. Reimbursement Scenario
    • 8.2.3.5. Competitive Scenario
  • 8.2.4. Mexico
    • 8.2.4.1. Mexico Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.2.4.2. Key Country Dynamics
    • 8.2.4.3. Regulatory Framework
    • 8.2.4.4. Reimbursement Scenario
    • 8.2.4.5. Competitive Scenario
• 8.3. Europe
  • 8.3.1. Europe Carrier Screening Market, 2021 - 2033 (USD Million)
  • 8.3.2. UK
    • 8.3.2.1. UK Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.2.2. Key Country Dynamics
    • 8.3.2.3. Regulatory Framework
    • 8.3.2.4. Reimbursement Scenario
    • 8.3.2.5. Competitive Scenario
  • 8.3.3. Germany
    • 8.3.3.1. Germany Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.3.2. Key Country Dynamics
    • 8.3.3.3. Regulatory Framework
    • 8.3.3.4. Reimbursement Scenario
    • 8.3.3.5. Competitive Scenario
  • 8.3.4. Spain
    • 8.3.4.1. Spain Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.4.2. Key Country Dynamics
    • 8.3.4.3. Regulatory Framework
    • 8.3.4.4. Reimbursement Scenario
    • 8.3.4.5. Competitive Scenario
  • 8.3.5. France
    • 8.3.5.1. France Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.5.2. Key Country Dynamics
    • 8.3.5.3. Regulatory Framework
    • 8.3.5.4. Reimbursement Scenario
    • 8.3.5.5. Competitive Scenario
  • 8.3.6. Italy
    • 8.3.6.1. Italy Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.6.2. Key Country Dynamics
    • 8.3.6.3. Regulatory Framework
    • 8.3.6.4. Reimbursement Scenario
    • 8.3.6.5. Competitive Scenario
  • 8.3.7. Denmark
    • 8.3.7.1. Denmark Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.7.2. Key Country Dynamics
    • 8.3.7.3. Regulatory Framework
    • 8.3.7.4. Reimbursement Scenario
    • 8.3.7.5. Competitive Scenario
  • 8.3.8. Sweden
    • 8.3.8.1. Sweden Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.8.2. Key Country Dynamics
    • 8.3.8.3. Regulatory Framework
    • 8.3.8.4. Reimbursement Scenario
    • 8.3.8.5. Competitive Scenario
  • 8.3.9. Norway
    • 8.3.9.1. Norway Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.3.9.2. Key Country Dynamics
    • 8.3.9.3. Regulatory Framework
    • 8.3.9.4. Reimbursement Scenario
    • 8.3.9.5. Competitive Scenario
• 8.4. Asia Pacific
  • 8.4.1. Asia-Pacific Carrier Screening Market, 2021 - 2033 (USD Million)
  • 8.4.2. Japan
    • 8.4.2.1. Japan Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.4.2.2. Key Country Dynamics
    • 8.4.2.3. Regulatory Framework
    • 8.4.2.4. Reimbursement Scenario
    • 8.4.2.5. Competitive Scenario
  • 8.4.3. China
    • 8.4.3.1. China Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.4.3.2. Key Country Dynamics
    • 8.4.3.3. Regulatory Framework
    • 8.4.3.4. Reimbursement Scenario
    • 8.4.3.5. Competitive Scenario
  • 8.4.4. India
    • 8.4.4.1. India Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.4.4.2. Key Country Dynamics
    • 8.4.4.3. Regulatory Framework
    • 8.4.4.4. Reimbursement Scenario
    • 8.4.4.5. Competitive Scenario
  • 8.4.5. South Korea
    • 8.4.5.1. South Korea Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.4.5.2. Key Country Dynamics
    • 8.4.5.3. Regulatory Framework
    • 8.4.5.4. Reimbursement Scenario
    • 8.4.5.5. Competitive Scenario
  • 8.4.6. Thailand
    • 8.4.6.1. Thailand Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.4.6.2. Key Country Dynamics
    • 8.4.6.3. Regulatory Framework
    • 8.4.6.4. Reimbursement Scenario
    • 8.4.6.5. Competitive Scenario
  • 8.4.7. Australia
    • 8.4.7.1. Australia Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.4.7.2. Key Country Dynamics
    • 8.4.7.3. Regulatory Framework
    • 8.4.7.4. Reimbursement Scenario
    • 8.4.7.5. Competitive Scenario
• 8.5. Latin America
  • 8.5.1. Latin America Carrier Screening Market, 2021 - 2033 (USD Million)
  • 8.5.2. Brazil
    • 8.5.2.1. Brazil Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.5.2.2. Key Country Dynamics
    • 8.5.2.3. Regulatory Framework
    • 8.5.2.4. Reimbursement Scenario
    • 8.5.2.5. Competitive Scenario
  • 8.5.3. Argentina
    • 8.5.3.1. Argentina Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.5.3.2. Key Country Dynamics
    • 8.5.3.3. Regulatory Framework
    • 8.5.3.4. Reimbursement Scenario
    • 8.5.3.5. Competitive Scenario
• 8.6. Middle East & Africa
  • 8.6.1. Middle East & Africa Carrier Screening Market, 2021 - 2033 (USD Million)
  • 8.6.2. South Africa
    • 8.6.2.1. South Africa Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.6.2.2. Key Country Dynamics
    • 8.6.2.3. Regulatory Framework
    • 8.6.2.4. Reimbursement Scenario
    • 8.6.2.5. Competitive Scenario
  • 8.6.3. Saudi Arabia
    • 8.6.3.1. Saudi Arabia Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.6.3.2. Key Country Dynamics
    • 8.6.3.3. Regulatory Framework
    • 8.6.3.4. Reimbursement Scenario
    • 8.6.3.5. Competitive Scenario
  • 8.6.4. UAE
    • 8.6.4.1. UAE Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.6.4.2. Key Country Dynamics
    • 8.6.4.3. Regulatory Framework
    • 8.6.4.4. Reimbursement Scenario
    • 8.6.4.5. Competitive Scenario
  • 8.6.5. Kuwait
    • 8.6.5.1. Kuwait Carrier Screening Market, 2021 - 2033 (USD Million)
    • 8.6.5.2. Key Country Dynamics
    • 8.6.5.3. Regulatory Framework
    • 8.6.5.4. Reimbursement Scenario
    • 8.6.5.5. Competitive Scenario

Chapter 9. Competitive Landscape

• 9.1. Company Categorization
• 9.2. Strategy Mapping
  • 9.2.1. NEW PRODUCT LAUNCH
  • 9.2.2. PARTNERSHIPS
  • 9.2.3. ACQUISITION
  • 9.2.4. COLLABORATION
  • 9.2.5. FUNDING
• 9.3. Key Company Market Share Analysis, 2024
• 9.4. Company Heat Map Analysis
• 9.5. Company Profiles
  • 9.5.1. Myriad Genetics, Inc.
    • 9.5.1.1. Company Overview
    • 9.5.1.2. Financial Performance
    • 9.5.1.3. Product Benchmarking
    • 9.5.1.4. Strategic Initiatives
  • 9.5.2. BGI Genomics
    • 9.5.2.1. Company Overview
    • 9.5.2.2. Financial Performance
    • 9.5.2.3. Product Benchmarking
    • 9.5.2.4. Strategic Initiatives
  • 9.5.3. Illumina, Inc.
    • 9.5.3.1. Company Overview
    • 9.5.3.2. Financial Performance
    • 9.5.3.3. Product Benchmarking
    • 9.5.3.4. Strategic Initiatives
  • 9.5.4. Thermo Fisher Scientific, Inc
    • 9.5.4.1. Company Overview
    • 9.5.4.2. Financial Performance
    • 9.5.4.3. Product Benchmarking
    • 9.5.4.4. Strategic Initiatives
  • 9.5.5. F. Hoffmann-La Roche Ltd
    • 9.5.5.1. Company Overview
    • 9.5.5.2. Financial Performance
    • 9.5.5.3. Product Benchmarking
    • 9.5.5.4. Strategic Initiatives
  • 9.5.6. Laboratory Corporation of America Holdings (LabCorp)
    • 9.5.6.1. Company Overview
    • 9.5.6.2. Financial Performance
    • 9.5.6.3. Product Benchmarking
    • 9.5.6.4. Strategic Initiatives
  • 9.5.7. Otogenetics Corporation
    • 9.5.7.1. Company Overview
    • 9.5.7.2. Financial Performance
    • 9.5.7.3. Product Benchmarking
    • 9.5.7.4. Strategic Initiatives
  • 9.5.8. MedGenome
    • 9.5.8.1. Company Overview
    • 9.5.8.2. Financial Performance
    • 9.5.8.3. Product Benchmarking
    • 9.5.8.4. Strategic Initiatives
  • 9.5.9. GeneTech (ATS Genetech Pvt Ltd)
    • 9.5.9.1. Company Overview
    • 9.5.9.2. Financial Performance
    • 9.5.9.3. Product Benchmarking
    • 9.5.9.4. Strategic Initiatives
  • 9.5.10. CENTOGENE GmbH
    • 9.5.10.1. Company Overview
    • 9.5.10.2. Financial Performance
    • 9.5.10.3. Product Benchmarking
    • 9.5.10.4. Strategic Initiatives