Carrier Screening Market Size & Share Analysis - Growth Trends & Forecasts (2025 - 2030)

The Carrier Screening Market Report is Segmented by Test Type (Molecular Screening Test and Biochemical Screening Test), Disease Type (Cystic Fibrosis, Tay-Sachs, Gaucher Disease, Sickle Cell Disease, Spinal Muscular Atrophy, and Other Autosomal Recessive Genetic Disorder), and Geography (North America, Europe, Asia-Pacific, Middle East and Africa, and South America). The Market Values are Provided (in USD) for the Above Segments.

Carrier Screening Market Size & Share Analysis - Growth Trends & Forecasts (2025 - 2030)

Carrier Screening Market Size

Carrier Screening Market  Summary
Study Period 2019 - 2030
Market Size (2025) USD 5.61 Billion
Market Size (2030) USD 8.84 Billion
CAGR (2025 - 2030) 9.53 %
Fastest Growing Market Asia-Pacific
Largest Market North America
Market Concentration Low

Major Players

Carrier Screening Market  Major Players

*Disclaimer: Major Players sorted in no particular order

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Carrier Screening Market Analysis

The Carrier Screening Market size is estimated at USD 5.61 billion in 2025, and is expected to reach USD 8.84 billion by 2030, at a CAGR of 9.53% during the forecast period (2025-2030).

  • Carrier screening is an integral component of reproductive health, aimed at identifying individuals or couples who may carry genetic mutations that could be passed on to offspring. The focus on early disease detection and prevention and significant advancements in genetic technologies have catalyzed the growth of this market. Carrier screening is vital for identifying genetic mutations linked to various hereditary diseases, thereby empowering prospective parents with critical information for making informed decisions.

Early Disease Detection: A Critical Component

  • Emphasis on Preventive Healthcare: The increasing focus on early disease detection and prevention is a pivotal factor driving the growth of the carrier screening market. Genetic testing enables early identification of potential health risks, especially in populations with a high prevalence of inherited disorders. This proactive approach, particularly in prenatal and preconception screening, allows for timely interventions, significantly reducing the incidence of severe genetic disorders.
  • Advancements in Genetic Technologies: The evolution of next-generation sequencing (NGS) and other genetic testing technologies has revolutionized carrier screening. These advancements have not only enhanced the accuracy and efficiency of tests but have also expanded the range of conditions that can be screened. With more comprehensive screening options available, individuals can now be tested for a broader spectrum of genetic mutations, leading to better-informed healthcare decisions.
  • Integration into Standard Care: Carrier screening is increasingly being integrated into standard reproductive healthcare, particularly in developed regions. Healthcare providers are more likely to recommend carrier screening as part of routine prenatal care, reflecting a shift towards preventive and personalized medicine. This integration further underscores the critical role of carrier screening in modern healthcare practices.

Personalized Medicine: Driving the Market Forward

  • Tailored Healthcare Solutions: Personalized medicine is reshaping the carrier screening landscape. As healthcare moves towards more individualized treatment approaches, the demand for genetic testing, including carrier screening, is rising. These tests provide crucial insights into an individual's genetic makeup, enabling healthcare providers to develop tailored treatment plans that address specific genetic risks, particularly in reproductive health.
  • Growing Awareness and Acceptance: The increasing awareness of the benefits of personalized medicine is driving more individuals to opt for genetic testing. This trend is especially evident in regions with advanced healthcare systems, where there is a higher level of consumer awareness and access to genetic counseling services. The availability of expanded carrier screening panels, which test for a wide range of genetic disorders, further supports this trend, positioning personalized medicine as a key driver of market growth.
  • Challenges and Opportunities: While personalized medicine presents significant growth opportunities for the carrier screening market, it also poses challenges. The high costs of comprehensive genetic testing can be prohibitive, particularly in regions with less developed healthcare systems. Additionally, issues related to data privacy, genetic discrimination, and ethical considerations remain significant concerns. However, advancements in technology and increasing awareness are expected to address these challenges, facilitating further market expansion.

Challenges in the Carrier Screening Market

  • Despite its growth, the carrier screening market faces challenges, particularly regarding the social and ethical implications of genetic testing. Concerns about genetic discrimination and the potential psychological impact of test results can dissuade individuals from undergoing screening. Additionally, the high costs associated with carrier testing, coupled with reimbursement issues within various healthcare systems, represent significant barriers to widespread adoption. Addressing these concerns is critical for the market's continued expansion.

Carrier Screening Industry Overview

  • Fragmented Market with Diverse Players: The global carrier screening market is characterized by a fragmented landscape, with a mix of global and regional companies competing. This diversity has led to intense competition, with no single player dominating the market. The fragmented nature of the carrier screening market allows new and smaller companies to establish themselves and compete effectively.
  • Key Market Leaders with Strong Capabilities: Major players in the carrier screening market include Illumina Inc., Thermo Fisher Scientific Inc., Abbott Laboratories, F. Hoffmann-La Roche Ltd, and Danaher Corporation (Cepheid). These companies are recognized for their advanced technologies, robust distribution networks, and strong R&D capabilities, which enable them to maintain a competitive edge. Their development of comprehensive carrier screening solutions has solidified their market positions.
  • Evolving Trends and Strategies for Success: Key trends shaping the carrier screening market include the increasing adoption of next-generation sequencing (NGS) and the rising demand for personalized medicine. To remain competitive, companies must focus on continuous innovation, expand their product offerings, and enhance their global presence. Strategic collaborations and acquisitions are also critical for market players to succeed in this evolving landscape.

Carrier Screening Market Leaders

  1. Illumina Inc.

  2. Thermo Fisher Scientific Inc.

  3. Abbott Laboratories

  4. F.Hoffmann-La Roche Ltd

  5. Danaher Corporation (Cepheid)

  6. *Disclaimer: Major Players sorted in no particular order
Carrier Screening Market Concentration
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Carrier Screening Market News

  • In July 2024, NxGen MDx unveiled its groundbreaking Early Advantage Panel (EAP) and Super Panel. These state-of-the-art genetic carrier screens aim to deliver equitable screening solutions, guaranteeing thorough and precise outcomes for all individuals, irrespective of their ethnic background.
  • In June 2024, Myriad Genetics, Inc. unveiled its new Universal Plus Panel as part of the Foresight Carrier Screen. This panel encompasses 39 conditions and evaluates up to 272 genes linked to severe inherited disorders.

Carrier Screening Market Report - 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 DYNAMICS

  • 4.1 Market Overview
  • 4.2 Market Drivers
    • 4.2.1 Increasing Emphasis on Early Disease Detection and Prevention
    • 4.2.2 Rising Demand for Personalized Medicine
    • 4.2.3 Increasing Application of Screening Tests in Genetic Disorders
  • 4.3 Market Restraints
    • 4.3.1 Social and Ethical Implications of Carrier Screening
    • 4.3.2 High Costs and Reimbursement Issues of Carrier Testing
  • 4.4 Porter's Five Forces Analysis
    • 4.4.1 Threat of New Entrants
    • 4.4.2 Bargaining Power of Buyers/Consumers
    • 4.4.3 Bargaining Power of Suppliers
    • 4.4.4 Threat of Substitute Products and Services
    • 4.4.5 Intensity of Competitive Rivalry

5. MARKET SEGMENTATION (Market Size by Value in USD)

  • 5.1 By Test Type
    • 5.1.1 Molecular Screening Test
    • 5.1.2 Biochemical Screening Test
  • 5.2 By Disease Type
    • 5.2.1 Cystic Fibrosis
    • 5.2.2 Tay-Sachs
    • 5.2.3 Gaucher Disease
    • 5.2.4 Sickle Cell Disease
    • 5.2.5 Spinal Muscular Atrophy
    • 5.2.6 Other Autosomal Recessive Genetic Disorders
  • 5.3 By Geography
    • 5.3.1 North America
    • 5.3.1.1 United States
    • 5.3.1.2 Canada
    • 5.3.1.3 Mexico
    • 5.3.2 Europe
    • 5.3.2.1 Germany
    • 5.3.2.2 United Kingdom
    • 5.3.2.3 France
    • 5.3.2.4 Italy
    • 5.3.2.5 Spain
    • 5.3.2.6 Rest of Europe
    • 5.3.3 Asia-Pacific
    • 5.3.3.1 China
    • 5.3.3.2 Japan
    • 5.3.3.3 India
    • 5.3.3.4 Australia
    • 5.3.3.5 South Korea
    • 5.3.3.6 Rest of Asia-Pacific
    • 5.3.4 Middle East and Africa
    • 5.3.4.1 GCC
    • 5.3.4.2 South Africa
    • 5.3.4.3 Rest of Middle East and Africa
    • 5.3.5 South America
    • 5.3.5.1 Brazil
    • 5.3.5.2 Argentina
    • 5.3.5.3 Rest of South America

6. COMPETITIVE LANDSCAPE

  • 6.1 Company Profiles
    • 6.1.1 23Andme Inc.
    • 6.1.2 Abbott Laboratories
    • 6.1.3 F. Hoffmann-La Roche AG
    • 6.1.4 Danaher Corporation (Cepheid)
    • 6.1.5 Illumina Inc.
    • 6.1.6 Luminex Corporation
    • 6.1.7 Sequenom Inc. (Laboratory Corporation of America Holdings)
    • 6.1.8 Myriad Genetics
    • 6.1.9 Autogenomics Inc.
    • 6.1.10 Thermo Fisher Scientific Inc.
  • *List Not Exhaustive

7. MARKET OPPORTUNITIES AND FUTURE TRENDS

**Subject to Availability
**Competitive Landscape covers- Business Overview, Financials, Products and Strategies and Recent Developments
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Carrier Screening Industry Segmentation

As per the scope of the report, carrier screening is a type of genetic test to identify autosomal recessive genetic disorders before or during a pregnancy stage. Further, it helps in identifying a child with a genetic disorder.

The carrier screening market is segmented by test type, disease type, and geography. By test type, the market is segmented into molecular screening tests and biochemical screening tests. By disease type, the market is segmented into cystic fibrosis, tay-sachs, Gaucher disease, sickle cell disease, spinal muscular atrophy, and other autosomal recessive genetic disorders. By geography, the market is segmented into North America, Europe, Asia-Pacific, the Middle East and Africa, and South America. The report also covers the estimated market sizes and trends for 17 countries across major regions globally. The report offers value (in USD) for the above segments.

By Test Type Molecular Screening Test
Biochemical Screening Test
By Disease Type Cystic Fibrosis
Tay-Sachs
Gaucher Disease
Sickle Cell Disease
Spinal Muscular Atrophy
Other Autosomal Recessive Genetic Disorders
By Geography North America United States
Canada
Mexico
Europe Germany
United Kingdom
France
Italy
Spain
Rest of Europe
Asia-Pacific China
Japan
India
Australia
South Korea
Rest of Asia-Pacific
Middle East and Africa GCC
South Africa
Rest of Middle East and Africa
South America Brazil
Argentina
Rest of South America
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Carrier Screening Market Research FAQs

How big is the Carrier Screening Market?

The Carrier Screening Market size is expected to reach USD 5.61 billion in 2025 and grow at a CAGR of 9.53% to reach USD 8.84 billion by 2030.

What is the current Carrier Screening Market size?

In 2025, the Carrier Screening Market size is expected to reach USD 5.61 billion.

Who are the key players in Carrier Screening Market?

Illumina Inc., Thermo Fisher Scientific Inc., Abbott Laboratories, F.Hoffmann-La Roche Ltd and Danaher Corporation (Cepheid) are the major companies operating in the Carrier Screening Market.

Which is the fastest growing region in Carrier Screening Market?

Asia-Pacific is estimated to grow at the highest CAGR over the forecast period (2025-2030).

Which region has the biggest share in Carrier Screening Market?

In 2025, the North America accounts for the largest market share in Carrier Screening Market.

What years does this Carrier Screening Market cover, and what was the market size in 2024?

In 2024, the Carrier Screening Market size was estimated at USD 5.08 billion. The report covers the Carrier Screening Market historical market size for years: 2019, 2020, 2021, 2022, 2023 and 2024. The report also forecasts the Carrier Screening Market size for years: 2025, 2026, 2027, 2028, 2029 and 2030.

Carrier Screening Industry Report

Our comprehensive industry research on the carrier screening market offers deep insights into the genetic testing landscape, particularly focusing on the growing demand for prenatal and preconception screening. The report thoroughly examines key trends, including the adoption of next-generation sequencing and expanded carrier screening panels. These advancements enable more precise identification of inherited disorders, positioning carrier screening as a crucial component in reproductive genetics. Stakeholders gain a competitive edge by accessing detailed market data, trends, and forecasts available in the report pdf, ensuring informed decision-making and strategic planning.

This industry report covers various aspects of the carrier screening market, such as regional analysis, market segmentation, and the competitive landscape. It highlights the integration of carrier screening into standard healthcare practices and the rising demand for personalized medicine. Additionally, the report delves into the challenges and opportunities within the market, such as ethical considerations and cost barriers. By providing in-depth industry information and market overview, the report equips stakeholders with the knowledge needed to navigate the evolving carrier screening landscape and capitalize on emerging opportunities.

Statistics for the 2023 Carrier Screening market share, size and revenue growth rate, created by Mordor Intelligence™ Industry Reports. Carrier Screening analysis includes a market forecast outlook to 2029 and historical overview. Get a sample of this industry analysis as a free report PDF download.