Carrier Screening Market to Reach USD 5.8 Bn by 2035, Growing at 11.8% CAGR | Transparency Market Research

Carrier screening market growth driven by rising demand for genetic testing, enabling informed family planning and prevention of inherited diseases.

WILMINGTON, DE, UNITED STATES, September 8, 2025 /EINPresswire.com/ -- The global carrier screening market, valued at USD 1.7 billion in 2024, is projected to expand at a robust CAGR of 11.8% between 2025 and 2035, reaching an estimated USD 5.8 billion by the end of 2035, according to the latest industry analysis. Growth is being fueled by advancements in genetic testing technologies, increased awareness of genetic disorders, and the rising demand for early detection and personalized medicine.

Market Overview: Carrier screening is a genetic test designed to identify whether individuals carry mutations that can cause inherited disorders in their children. It is particularly recommended for couples planning to start a family, especially those with a family history of genetic conditions or belonging to ethnic groups at higher risk for specific disorders.

The test can detect carriers of recessive diseases such as cystic fibrosis, Tay-Sachs disease, Gaucher disease, and sickle cell anemia. If both parents are carriers of the same mutation, there is a higher risk of the disorder being passed on to their child. Carrier screening provides critical information for family planning and reproductive decision-making, supporting the wider adoption of preventive healthcare strategies worldwide.
With the rise of expanded carrier screening (ECS), which tests for over 100 genetic conditions, and the use of advanced blood-based testing for higher accuracy, the market is witnessing significant momentum.

Key Drivers of Market Growth

1. Advancements in Genetic Testing Technology
The adoption of next-generation sequencing (NGS), microarrays, and CRISPR-based innovations has improved the accuracy, affordability, and turnaround time of carrier screening tests. NGS enables the simultaneous analysis of multiple genetic variants, offering comprehensive insights into hereditary conditions.
The availability of advanced panels from companies such as Invitae and LabCorp, covering over 200 conditions, has expanded the scope of testing and increased accessibility for individuals worldwide.
2. Increased Awareness and Early Detection
Healthcare professionals, advocacy groups, and media campaigns are playing a critical role in raising awareness about inherited genetic disorders. Couples are increasingly seeking carrier screening before conception or during pregnancy to make informed reproductive choices.
This shift is part of a broader trend toward preventive healthcare and personalized medicine, where genetic risk assessment is becoming a standard practice.
3. Growing Demand for Personalized Medicine
As precision medicine gains traction globally, carrier screening is being integrated into reproductive healthcare programs. Governments and private healthcare institutions are supporting genetic testing coverage, further accelerating adoption.

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Key Players and Industry Leaders

The competitive landscape of the carrier screening market is characterized by innovation, product portfolio expansion, and strategic partnerships. Major players include:
• Myriad Genetics, Inc.
• Illumina Inc.
• Thermo Fisher Scientific Inc.
• F. Hoffmann-La Roche Ltd.
• LabCorp
• Quest Diagnostics Incorporated
• Natera Inc.
• Fulgent Genetics
• Centogene N.V.
• MedGenome
• Otogenetics
These companies are focusing on R&D investments, advanced software integration, AI-driven analytics, and global partnerships to expand their reach and strengthen market presence.

Recent Developments

• June 2024 – Illumina launched DRAGEN v4.3 software for next-generation sequencing analysis, enhancing accuracy with multigenome mapping, mosaic calling, and machine learning features, supporting deeper insights into human genome variations.
• March 2023 – Illumina Inc. and Myriad Genetics Inc. expanded their strategic partnership to improve access to oncology genetic testing in the U.S., including the TruSight Oncology 500 HRD test, strengthening collaborative diagnostic solutions.
These advancements highlight the market’s shift toward integrated testing ecosystems that combine hardware, software, and clinical research collaborations.

New Opportunities and Challenges

Opportunities
• Expanded Carrier Screening (ECS): Broader panels testing for rare and common genetic disorders offer comprehensive risk assessment.
• Integration of AI in Genomics: Artificial intelligence is enhancing mutation detection, predictive analytics, and result interpretation, making screening more reliable.
• Rising Adoption in Emerging Markets: Countries in Asia-Pacific and Latin America are increasing healthcare investments, creating new growth opportunities for genetic testing providers.

Challenges
• High Cost of Genetic Testing: Despite progress, the affordability gap remains a barrier in low-income countries.
• Ethical and Privacy Concerns: Issues around genetic data storage, patient privacy, and consent may limit adoption in certain regions.
• Limited Awareness in Developing Regions: While awareness is growing globally, many parts of the world still lack adequate education and infrastructure for genetic testing.

Latest Market Trends

1. Rise of Expanded Carrier Screening (ECS): ECS has become mainstream, with blood samples preferred for their accuracy and DNA yield.
2. Shift Toward Preventive Healthcare: Carrier screening is now a routine part of reproductive health planning, especially in developed regions.
3. Increased Use of AI and Bioinformatics: AI is improving mutation analysis and prediction, driving precision medicine.
4. Growing Adoption of Direct-to-Consumer Testing: Several companies now offer at-home genetic testing kits, improving accessibility.

Future Outlook

Analysts expect the carrier screening market to grow steadily through 2035, supported by:
• Wider healthcare insurance coverage for genetic testing.
• Mainstream adoption of NGS-based solutions in hospitals and laboratories.
• Policy support for genetic counseling and preventive healthcare in major markets such as the U.S., Europe, and Asia-Pacific.
By 2035, carrier screening is anticipated to become an integral component of reproductive healthcare worldwide, ensuring early intervention and better genetic health management.

Market Segmentation

The carrier screening market can be segmented as follows:
By Type
• Expanded Carrier Screening (ECS)
• Targeted Disease Carrier Screening

By Sample Type
• Blood
• Saliva
• Others (Cheek Swab, etc.)

By Technique
• DNA Sequencing
• Polymerase Chain Reaction (PCR)
• Microarrays
• Others (NGS, etc.)

By Application
• Cystic Fibrosis
• Tay-Sachs Disease
• Gaucher Disease
• Sickle Cell Disease
• Others (Spinal Muscular Atrophy, Fragile X, etc.)

By End-user
• Hospitals & Clinics
• Reference Laboratories
• Others (Physician Offices, Genetic Counselors, etc.)

Regional Insights

• North America: Dominates the global market due to strong healthcare infrastructure, early adoption of NGS, and supportive policies. The U.S. leads in terms of market share and innovation, with widespread use of expanded carrier screening panels.
• Europe: Shows strong growth, driven by government initiatives, high awareness, and robust R&D in genetic technologies. Countries like Germany, the U.K., and France are leading contributors.
• Asia-Pacific: Expected to record the fastest CAGR during the forecast period. Rising healthcare investments in China, India, and Japan, coupled with large populations, are boosting demand.
• Latin America & Middle East & Africa: Growing steadily, but challenges remain due to lower awareness levels and limited healthcare infrastructure. However, increasing investments in precision medicine offer opportunities.

Why Buy This Report?

• Comprehensive market size, forecast, and growth analysis through 2035.
• Detailed coverage of key drivers, trends, opportunities, and challenges.
• Company profiles with business strategies, product portfolios, and recent developments.
• Insights into regional dynamics and competitive landscapes.
• In-depth market segmentation analysis for strategic decision-making.

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