캐리어 스크리닝 : 시장 점유율 분석, 산업 동향, 통계, 성장 예측(2025-2030년)

The global carrier screening market stood at USD 3.36 billion in 2025 and is forecast to climb to USD 5.91 billion by 2030, registering an 11.95% CAGR over the period.

Growth stems from falling next-generation sequencing prices, tightening but clearer Laboratory Developed Test rules, and deeper integration of genetic screening across fertility medicine. Providers now weave carrier testing into routine reproductive decision-making, while employer genetic-benefit programs, wider insurance coverage, and population pilots boost test volumes. Consolidation among reference laboratories accelerates scale advantages, and multi-gene panel uptake signals a shift from single-gene assays toward broad, cost-effective genomic screens. At the same time, shortages of trained genetic counselors and uneven reimbursement temper near-term expansion, pressing stakeholders to adopt tele-genetics and AI-supported result interpretation.

Global Carrier Screening Market Trends and Insights

Increasing Emphasis on Early Disease Detection and Prevention

Payers and public-health agencies increasingly see comprehensive genomic screening as a cost-saving path rather than a discretionary service. Australia's microsimulation of 569 recessive disorders predicted 2,067 affected births avoided at 50% test uptake, dwarfing outcomes from limited panels.Large newborn initiatives in the United Kingdom and New York City covering 200,000 infants further spotlight the pivot toward preventive genomics.Geisinger's MyCode program found clinically actionable results in 1 in 30 participants, most of whom were unaware of inherited risks. These demonstrations of clinical and fiscal value propel wider adoption of broad multi-gene carrier screening, cementing preventive genomics as routine care.

Rising Demand for Personalized Reproductive Medicine

Assisted reproduction now defaults to genetic scrutiny for both partners. Johns Hopkins Fertility Center recommends expanded panels covering more than 400 recessive conditions for every patient regardless of ancestry. Non-invasive embryo assays allow preimplantation genetic assessment without biopsy-related viability concerns, easing patient acceptance. Australia's Medicare reimbursement for reproductive carrier screening underscores official endorsement of such proactive planning. Couples now desire genomic clarity before pregnancy, pushing clinics to embed carrier testing into routine fertility workflows and lifting test volumes within the carrier screening market.

High Costs and Inconsistent Reimbursement

UnitedHealthcare explicitly excludes carrier tests from Medicare Advantage coverage, and limited CPT codes complicate claims for novel panels. Belgium recorded EUR 365 per newborn genomic test, well above conventional screens, challenging health-system budgets. Fragmented policies slow the spread of comprehensive screening in lower-income regions.

Other drivers and restraints analyzed in the detailed report include:

1. Declining NGS Costs Enabling Expanded Panels
2. Integration of Carrier Screening in IVF and ART Protocols
3. Limited Genetic-Counseling Workforce Capacity

For complete list of drivers and restraints, kindly check the Table Of Contents.

Segment Analysis

Molecular assays commanded 63.18% of 2024 revenue and are advancing at 13.36% CAGR, eclipsing biochemical methods in sensitivity and multiplexing scope. This dominance propels the carrier screening market as providers prefer direct variant detection over indirect metabolite proxies. The Comprehensive Analysis of Thalassemia Alleles protocol in southern China illustrates the efficacy of ultra-high-throughput sequencing where carrier prevalence exceeds 16%.

Biochemical screens still matter for enzyme or protein conditions and blend well with genomic assays in newborn programs such as Belgium's BabyDetect. Economic analyses confirm tandem mass spectrometry's value in certain metabolic scenarios, ensuring that diversified testing menus persist alongside molecular expansion.

Cystic fibrosis retained 59.46% share in 2024 thanks to universal guidelines and payer familiarity, securing a large slice of the carrier screening market share. Expanded 100-variant CFTR panels raise detection rates in multiethnic populations.

Spinal muscular atrophy, projected at 12.73% CAGR, benefits from transformative therapies and inclusion in most newborn panels. Ancestry-driven programs for Tay-Sachs, Gaucher, and sickle cell disease continue, while rare autosomal recessive conditions gain traction as sequencing costs fall.

Carrier Screening Market Report is Segmented by Test Type (Molecular Screening Test and Biochemical Screening Test), Disease Type (Cystic Fibrosis, Tay-Sachs Disease and More), Panel Type (Targeted Single-Gene Panels, Ethnicity-Specific Panels and More), Technology (NGS, PCR and More), End User (Hospitals & Clinics, Diagnostic Laboratories and More) and Geography. The Market Forecasts are Provided in Terms of Value (USD).

Geography Analysis

North America secured 44.18% revenue in 2024 on the strength of employer genetic benefits, robust counseling networks, and an FDA framework that balances oversight with innovation. Geisinger's MyCode enrollment surpassed 175,000 individuals, evidencing appetite for population genomics. South Carolina's In Our DNA initiative recruited 50,000 participants toward a 100,000 goal, reinforcing state-level momentum.

Asia-Pacific exhibits the strongest growth at 13.83% CAGR. China's iHope project assisted 513 rare-disease families by mid-2024 and targets 1,800 by 2026, while national thalassemia screening addresses carrier rates up to 24% in southern provinces. Australia's Medicare-funded panels set a regional precedent for reimbursement.

Europe records balanced expansion. The UK aims to sequence 100,000 newborn genomes, while Belgium's 90% parental acceptance rates for genomic newborn screening prove public trust. Israel's Ministry of Health funds a 650-variant program comprising 290 genes, underlining governmental support for broad panels.

1. Abbott Laboratories
2. Roche
3. Danaher Corp (Cepheid)
4. Thermo Fisher Scientific
5. Illumina
6. Laboratory Corp of America Holdings (LabCorp)
7. Myriad Genetics
8. Natera
9. Invitae
10. Revvity
11. Eurofins
12. BGI Genomics Co. Ltd.
13. Fulgent Genetics Inc.
14. 23andMe Holding Co.
15. Centogene
16. Quest Diagnostics
17. Color Health
18. GeneDx LLC (Sema4)
19. Baylor Genetics
20. The Cooper Companies
21. AutoGenomics Inc.

Additional Benefits:

• The market estimate (ME) sheet in Excel format
• 3 months of analyst support

TABLE OF CONTENTS

1 Introduction

• 1.1 Study Assumptions and Market Definition
• 1.2 Scope of the Study

2 Research Methodology

3 Executive Summary

4 Market Landscape

• 4.1 Market Overview
• 4.2 Market Drivers
  • 4.2.1 Increasing Emphasis On Early Disease Detection & Prevention
  • 4.2.2 Rising Demand For Personalized Reproductive Medicine
  • 4.2.3 Declining NGS Costs Enabling Expanded Panels
  • 4.2.4 Integration Of Carrier Screening In IVF / ART Protocols
  • 4.2.5 Employer-Sponsored Genetic-Benefit Programs
  • 4.2.6 Payer Mandates Tied To Population-Screening Pilots
• 4.3 Market Restraints
  • 4.3.1 High Costs & Inconsistent Reimbursement
  • 4.3.2 Ethical & Psychosocial Concerns Over Incidental Findings
  • 4.3.3 Limited Genetic-Counseling Workforce Capacity
  • 4.3.4 Data-Privacy Regulations Limiting Secondary Data Use
• 4.4 Value / Supply-Chain Analysis
• 4.5 Regulatory Landscape
• 4.6 Technology Outlook
• 4.7 Porter's Five Forces Analysis
  • 4.7.1 Bargaining Power of Suppliers
  • 4.7.2 Bargaining Power of Buyers
  • 4.7.3 Threat of New Entrants
  • 4.7.4 Threat of Substitutes
  • 4.7.5 Intensity of Competitive Rivalry

5 Market Size and Growth Forecasts (Value-USD)

• 5.1 By Test Type
  • 5.1.1 Molecular Screening Tests
  • 5.1.2 Biochemical Screening Tests
• 5.2 By Disease Type
  • 5.2.1 Cystic Fibrosis
  • 5.2.2 Tay-Sachs Disease
  • 5.2.3 Gaucher Disease
  • 5.2.4 Sickle Cell Disease
  • 5.2.5 Spinal Muscular Atrophy
  • 5.2.6 Other Autosomal Recessive Disorders
• 5.3 By Panel Type
  • 5.3.1 Targeted Single-Gene Panels
  • 5.3.2 Ethnicity-Specific Panels
  • 5.3.3 Expanded Multi-Gene Panels
• 5.4 By Technology
  • 5.4.1 Next-Generation Sequencing (NGS)
  • 5.4.2 Polymerase Chain Reaction (PCR)
  • 5.4.3 Microarrays
  • 5.4.4 Others
• 5.5 By End-User
  • 5.5.1 Hospitals & Clinics
  • 5.5.2 Diagnostic Laboratories
  • 5.5.3 Physician Offices & IVF Centers
  • 5.5.4 Academic & Research Institutes
• 5.6 By Geography
  • 5.6.1 North America
    • 5.6.1.1 United States
    • 5.6.1.2 Canada
    • 5.6.1.3 Mexico
  • 5.6.2 Europe
    • 5.6.2.1 Germany
    • 5.6.2.2 United Kingdom
    • 5.6.2.3 France
    • 5.6.2.4 Italy
    • 5.6.2.5 Spain
    • 5.6.2.6 Rest of Europe
  • 5.6.3 Asia-Pacific
    • 5.6.3.1 China
    • 5.6.3.2 Japan
    • 5.6.3.3 India
    • 5.6.3.4 Australia
    • 5.6.3.5 South Korea
    • 5.6.3.6 Rest of Asia-Pacific
  • 5.6.4 Middle East and Africa
    • 5.6.4.1 GCC
    • 5.6.4.2 South Africa
    • 5.6.4.3 Rest of Middle East and Africa
  • 5.6.5 South America
    • 5.6.5.1 Brazil
    • 5.6.5.2 Argentina
    • 5.6.5.3 Rest of South America

6 Competitive Landscape

• 6.1 Market Concentration
• 6.2 Market Share Analysis
• 6.3 Company profiles (includes Global level Overview, Market level overview, Core Segments, Financials as available, Strategic Information, Market Rank/Share for key companies, Products and Services, and Recent Developments)
  • 6.3.1 Abbott Laboratories
  • 6.3.2 F. Hoffmann-La Roche AG
  • 6.3.3 Danaher Corp (Cepheid)
  • 6.3.4 Thermo Fisher Scientific Inc.
  • 6.3.5 Illumina Inc.
  • 6.3.6 Laboratory Corp of America Holdings (LabCorp)
  • 6.3.7 Myriad Genetics Inc.
  • 6.3.8 Natera Inc.
  • 6.3.9 Invitae Corp.
  • 6.3.10 Revvity
  • 6.3.11 Eurofins Scientific SE
  • 6.3.12 BGI Genomics Co. Ltd.
  • 6.3.13 Fulgent Genetics Inc.
  • 6.3.14 23andMe Holding Co.
  • 6.3.15 Centogene N.V.
  • 6.3.16 Quest Diagnostics Inc.
  • 6.3.17 Color Health Inc.
  • 6.3.18 GeneDx LLC (Sema4)
  • 6.3.19 Baylor Genetics
  • 6.3.20 CooperSurgical Inc.
  • 6.3.21 AutoGenomics Inc.

7 Market Opportunities and Future Outlook

• 7.1 White-Space and Unmet-Need Assessment