Carrier Screening Market Size & Outlook, 2026-2034

Carrier Screening Market Overview

The global carrier screening market size is valued at USD 1.98 billion in 2025 and is estimated to reach USD 6.51 billion by 2034, growing at a CAGR of 14.20% during the forecast period. The remarkable market growth is driven by the rising demand for pan ethnic carrier screening in preconception planning globally.

Key Market Trends & Insights

• North America dominated the global market, accounting for 45.93% share in 2025.
• The Asia Pacific region is projected to grow at the fastest pace, with a CAGR of 15.06% during the forecast period.
• Based on type, the expanded carrier screening segment held the highest market share in 2025.
• On the basis of technology, the stem polymerase chain reaction segment is expected to register the fastest CAGR growth of 15.62%.
• By medical condition, the hematology segment dominated the market, accounting for 36.13% revenue share in 2025.
• Based on end use, the laboratories segment dominated the market with a revenue share of 42.49% in 2025.
• The U.S. dominates the market, valued at USD 740.92 million in 2024 and reaching USD 842.95 million in 2025.

Table: U.S. Carrier Screening Market Size (USD Million)

Source: Straits Research

Market Size & Forecast

• 2025 Market Size: USD 1.98 billion
• 2034 Projected Market Size: USD 6.51 billion
• CAGR (2026-2034): 14.20%
• Dominating Region: North America
• Fastest-Growing Region: Asia Pacific

The carrier screening market encompasses diverse testing solutions designed to identify genetic risks and inherited disorders. The screening is offered through expanded carrier panels and targeted disease tests, utilizing technologies such as DNA sequencing, polymerase chain reaction, DNA microarrays, and other molecular methods. These tests cover medical conditions, including pulmonary, hematology, neurology, rare diseases, and other disorders. These services are provided across multiple healthcare settings, including hospitals, diagnostic laboratories, physician offices, clinics, and other medical facilities.

Latest Market Trends

Integration of AI and Machine Learning in Carrier Screening

A significant trend in the carrier screening market is the integration of artificial intelligence and machine learning to enhance variant interpretation and risk prediction. For example, companies like Sema4 leverage AI-driven analytics to process complex genomic data, improving accuracy in detecting pathogenic variants. This technological advancement accelerates results, reduces diagnostic errors, and supports personalized reproductive counseling, driving greater adoption of carrier screening services across clinical and fertility care settings worldwide.

Shift Towards Direct-To-Consumer (DTC) Carrier Screening Services

The global market is shifting from clinic-based testing to direct-to-consumer (DTC) services, enabling individuals and couples to access genetic risk information without physician referral. Companies such as Color Health and Invitae provide at-home sample collection kits with online counseling, marking a transition toward more convenient, consumer-driven reproductive health solutions. This shift is broadening market reach, increasing awareness of inherited disorders, and driving adoption of personalized carrier screening outside conventional clinical settings.

To get more insights about this report Download Free Sample Report

Carrier Screening Market Driver

Growing Advancements in NGS Technologies

The carrier screening market is being propelled by rapid advancements in NGS technologies, which allow faster and more accurate detection of genetic variants. For example, Illumina’s NGS platforms enable comprehensive multi-gene panels to screen for hundreds of inherited disorders simultaneously. This technological progress is expanding testing capabilities, improving diagnostic accuracy, and encouraging broader adoption across hospitals, laboratories, and specialty clinics, thereby significantly contributing to the global growth of the market.

Market Restraints

Limited Availability of Skilled Genetic Counselors

A key challenge in the carrier screening market is the shortage of trained genetic counselors to interpret complex test results and provide patient guidance. This scarcity is particularly pronounced in emerging markets, where limited expertise hampers the effective implementation of carrier screening programs. For instance, many clinics in Asia Pacific and Africa face delays in result interpretation and patient education, restricting adoption rates and slowing the overall growth of the global market.

Market Opportunities

Growth of Regional Partnerships for Localized Carrier Screening Solutions

Collaborations between global genetic testing companies and regional healthcare providers are creating new opportunities in the market. For instance, partnerships in the Asia Pacific and Latin America are enabling the development of population-specific carrier panels that address local genetic variations. These localized solutions improve test accuracy, enhance adoption in underserved regions, and allow companies to expand their footprint while meeting the unique healthcare needs of diverse populations, driving overall market growth.

Regional Analysis

The North America region accounted for the largest market with a revenue share of 45.93% in 2025. This dominance is supported by the region’s strong integration of carrier screening into fertility and reproductive health insurance plans. In the U.S. and Canada, expanding coverage for genetic testing under private and public healthcare programs has significantly increased accessibility, encouraging routine preconception and prenatal screening and driving consistent growth across North America’s market.

Canada’s carrier screening market growth is driven by the country’s expanding network of genomics research hubs and government-supported precision health initiatives. Programs such as Genome Canada’s population genomics projects are promoting nationwide adoption of carrier screening in hospitals, fertility centers, and academic institutions to advance early genetic risk identification and personalized reproductive care.

Asia Pacific Market Insights

Asis Pacific is emerging as the fastest-growing region with a CAGR of 15.06% from 2026-2034, driven by increasing investments in localized genetic databases and population-specific mutation profiling. Countries such as China, India, and Japan are prioritizing the development of regional genomic reference data, enabling accurate carrier screening tailored to diverse ethnic groups and improving diagnostic precision across the region.

The Indian carrier screening market is witnessing strong momentum, supported by rising adoption of genetic counseling services integrated within fertility and IVF clinics. Increasing collaborations between diagnostic labs and reproductive health centers are enhancing patient awareness of inherited disorders, while urban healthcare providers are incorporating carrier screening as a standard component of preconception planning and assisted reproduction programs.

Regional Market share (%) in 2025

Source: Straits Research

Europe Market Insights

Europe is witnessing steady growth in the market, driven by the rising prevalence of hematological genetic disorders such as β-thalassemia and sickle cell anemia, particularly among migrant and Mediterranean populations. Increasing government-led screening initiatives targeting these disorders, along with public health campaigns for early genetic detection, are driving higher adoption of carrier testing across European reproductive health programs.

A key factor driving the France carrier screening market growth is the rapid expansion of private fertility clinics offering integrated genetic testing services. The growing preference for assisted reproductive technologies such as IVF has increased demand for preconception and preimplantation carrier screening, as French couples seek advanced, personalized reproductive solutions to reduce the risk of inherited genetic disorders.

Latin America Market Insights

The Latin American market is driven by increasing regional collaborations between public health institutions and international genomics organizations. Countries such as Brazil and Mexico are partnering with global research networks to build genetic variant databases specific to Latin populations, improving test accuracy, awareness, and accessibility of carrier screening across diverse ethnic communities.

Argentina's carrier screening market is driven by the rising application of genetic testing in population health studies and preventive medicine. The country’s expanding participation in regional genomics initiatives aimed at mapping hereditary disease prevalence is promoting broader use of carrier screening technologies.

Middle East and Africa Market Insights

The Middle East and Africa market is witnessing growth with the region’s increasing adoption of mobile and telehealth-based genetic counseling services. These digital platforms are improving access to carrier screening in remote and underserved areas, enabling early risk assessment and broader uptake of genetic testing across diverse populations.

South Africa’s carrier screening market is expanding through increasing public-private partnerships between healthcare providers and biotechnology firms. These collaborations are establishing specialized genetic testing laboratories, expanding access to comprehensive carrier screening services, and integrating advanced diagnostics into routine healthcare, particularly for high-risk populations, thereby boosting market adoption nationwide.

Type Insights

The expanded carrier screening segment dominated the market in 2025, due to its ability to simultaneously detect a wide array of pulmonary and rare diseases, enabling comprehensive risk assessment for diverse populations and improving clinical decision-making in both prenatal and preconception care.

The targeted disease carrier screening segment is projected to witness the fastest growth, registering a projected CAGR of 15.36% during the forecast period. This growth is stimulated by increasing demand for condition-specific testing in high-risk populations, allowing focused detection of prevalent genetic disorders and enabling personalized counseling and preventive strategies.

Technology Insights

The DNA sequencing segment accounted for the highest market share of 44.87% in 2025, owing to its high accuracy and ability to analyze multiple genes simultaneously, facilitating comprehensive carrier detection and supporting advanced diagnostic applications in diverse clinical and laboratory settings.

The polymerase chain reaction segment is expected to register the fastest CAGR growth of 15.62%, owing to its rapid amplification capabilities, cost-effectiveness, and suitability for detecting specific known genetic mutations, making it ideal for targeted carrier screening in clinical and laboratory environments.

By Technology Market Share (%), 2025

Source: Straits Research

Medical Condition Insights

The hematology segment dominated the market with a revenue of 36.13% in 2025. This growth is stimulated by the high prevalence of inherited blood disorders such as sickle cell disease and thalassemia, driving increased demand for early detection through carrier screening.

The rare disease segment is expected to register the fastest CAGR during the forecast period, due to growing awareness and improved diagnostic capabilities for identifying carriers of uncommon genetic disorders, enabling early intervention and personalized healthcare strategies for affected populations.

End Use Insights

The laboratories segment dominated the market with a revenue share of 42.49% in 2025, due to their capacity to process high volumes of carrier screening tests efficiently, provide specialized genomic analysis, and offer integrated services that support both clinical and research applications.

Competitive Landscape

The global carrier screening market is fragmented, with a mix of established diagnostics leaders and emerging genomics innovators driving competition. Major players such as Illumina Inc., Natera Inc., Myriad Genetics, Thermo Fisher Scientific, LabCorp, and others dominate through advanced genetic testing platforms, extensive clinical networks, and strong R&D investments. Additionally, emerging companies such as Fulgent Genetics, Color Health, and Sema4 are gaining traction with technology-driven carrier screening solutions.

Fulgent Genetics Inc.: An emerging market player

Fulgent Genetics, a rapidly growing genetic testing company, is emerging as a key player in the global market with a focus on expanded carrier screening panels. The company leverages NGS technologies and proprietary analytics to identify carrier status for a broad range of genetic conditions with high accuracy.

• In 2023, Fulgent launched its enhanced Comprehensive Carrier Screening Panel, covering over 500 genes associated with inherited disorders, strengthening its reproductive health portfolio.

List of key players in Carrier Screening Market

1. Natera, Inc.
2. Illumina, Inc.
3. Myriad Genetics, Inc.
4. Thermo Fisher Scientific Inc.
5. Laboratory Corporation of America Holdings
6. Invitae Corporation
7. Fulgent Genetics, Inc.
8. Centogene N.V.
9. Quest Diagnostics Incorporated
10. Eurofins Scientific
11. BGI Genomics Co., Ltd.
12. Hoffmann-La Roche Ltd
13. Danaher Corporation
14. OPKO Health Inc.
15. PerkinElmer Inc.
16. MedGenome Inc.
17. Progenity Inc.
18. Others

To get more findings about this report Download Market Share

Strategic Initiatives

• September 2025: PacBio, a leading manufacturer of sequencing solutions, entered the high-throughput global market.
• March 2025: Bio-Techne Corporation’s Asuragen teamed up with Oxford Nanopore Technologies to launch the AmplideX Nanopore Carrier Plus Kit.