Press Release   -

Investments Surge in Carrier Screening Market as Demand for Personalized and Preventive Genomic Healthcare Rises Globally

The global Carrier Screening Market is entering a phase of significant expansion, driven by advances in genomic technologies, increasing awareness of inherited disorders, and the growing emphasis on pre-conception and prenatal genetic risk assessment. Carrier screening enables couples and individuals to identify whether they carry gene variants associated with autosomal-recessive or X-linked conditions, thereby supporting informed reproductive choices. With cost reductions in DNA sequencing, a shift toward expanded panels, and increasing integration into clinical pathways, the market is poised for robust growth.

Key Takeaways

1. The Carrier Screening Market is estimated at approximately USD 2 billion in 2024.
2. It is projected to reach around USD 5.64 billion by 2035, reflecting a CAGR of 9.95% from 2025 to 2035.
3. Expanded carrier screening (ECS) continues to account for the largest segment, driven by panel-testing across multiple genetic disorders.
4. Advanced technologies—particularly DNA sequencing—are increasing in uptake, improving screening comprehensiveness and accuracy.
5. North America remains the dominant region, while Asia Pacific is expected to register the fastest growth rate.
6. Key challenges include cost, awareness gaps in emerging markets and ethical/regulatory complexity around genetic screening.

Key Market Trends & Insights

One of the foremost trends is the shift from targeted disease screening (for a small number of conditions based on ethnicity or family history) toward expanded carrier screening (ECS) panels which test for hundreds of conditions across all ethnicities. Technological advancement such as next-generation sequencing (NGS), microarrays and multiplex PCR has made these panels more cost-effective and scalable. Awareness of reproductive genetic risk is rising among couples and fertility programmes, further driving adoption. At the same time, payors and guidelines are gradually supporting broader screening. Emerging markets are also increasingly targeting pre-conception and prenatal screening as part of preventive care.

Market Size & Forecast

According to the report by Vantage Market Research, the carrier screening market stood at USD 2 billion in 2024. Over the forecast period 2025-2035, it is expected to grow at a CAGR of 9.95%, reaching approximately USD 5.64 billion by 2035. This expansion reflects increasing procedural adoption, expansion into new geographies, broader test panels and improved access and affordability of genetic screening services.

The carrier screening market is relatively competitive, with multiple global players offering test panels, service providers and labs, yet also characterized by a few major companies dominating due to brand recognition, extensive genomic libraries and distribution networks. Barriers include regulatory approval, clinical validation, access to large population databases and cost of high-throughput sequencing infrastructure. The market is marked by ongoing innovation, frequent acquisitions and partnerships, and shifting toward direct-to-consumer models and fertility/IVF clinic partnerships. Cost pressure, data privacy, and reimbursement remain important considerations.

Type Insights

The carrier screening market by type is divided into Targeted Carrier Screening and Expanded Carrier Screening (ECS). Targeted screening focuses on specific genes or disorders common within certain ethnic groups or family histories, offering cost-effective testing. Expanded Carrier Screening, however, analyzes hundreds of genes simultaneously, enabling comprehensive identification of potential genetic risks irrespective of ancestry. ECS is rapidly gaining traction due to advances in next-generation sequencing (NGS), growing public awareness, and decreasing testing costs, making it the dominant segment.

Technology Insights

Based on technology, the market is segmented into DNA Sequencing, Polymerase Chain Reaction (PCR), Microarray, and Other Technologies. DNA sequencing—especially next-generation sequencing—leads the market due to its ability to detect multiple variants with high accuracy, scalability, and decreasing cost per test. PCR and microarrays are widely used for targeted analysis of known mutations or smaller panels, particularly in low-resource settings. Emerging technologies like long-read sequencing and AI-based variant interpretation are expected to enhance detection precision and expand testing capabilities.

End User Insights

The end-user segmentation includes Hospitals & Clinics, Reference Laboratories, and Physician Offices. Reference laboratories dominate the global market due to their advanced genomic infrastructure, high testing capacity, and expertise in data interpretation. Hospitals and clinics are increasingly adopting in-house screening services integrated with reproductive health programs and preconception counseling. Physician offices also contribute through patient referrals and direct-to-consumer test facilitation. The growing availability of at-home genetic testing kits is further democratizing access to carrier screening services worldwide.

Regional Insights

North America Carrier Screening Market Trends

North America continues to command the largest share of the global carrier screening market, owing to advanced healthcare infrastructure, early adoption of genomics in reproductive care, strong reimbursement frameworks and large fertility/IVF markets. The U.S. features a high uptake of expanded carrier screening panels, direct-to-consumer testing models and leading genomic companies. Awareness among clinicians and patients, robust academic research and favourable regulation contribute to region dominance.

Europe Market Carrier Screening Trends

In Europe, the market is growing steadily, supported by national healthcare systems integrating genetic screening into reproductive health and prenatal programmes, strong research activity in genomics, and increasing availability of expanded panels. The region has well-established diagnostic labs and networks, and regulatory frameworks that support clinical genetic testing. However, variation across countries in reimbursement, awareness and guidelines results in uneven adoption. Growth is expected to continue as pan-European screening programmes expand.

Asia Pacific Carrier Screening Market Trends

The Asia Pacific region is expected to register the fastest growth in the coming years, driven by large and growing population bases, increasing investment in healthcare infrastructure, rising awareness of genetic disorders, and expanding fertility/IVF services. Countries like China, India, Japan and South Korea are seeing increasing adoption of genetic screening programmes, and genomic companies are scaling operations in the region. As screening costs decline and accessibility improves, the Asia Pacific region offers substantial potential for market expansion.

Latin America Carrier Screening Market Trends

Latin America is showing moderate yet meaningful growth in the carrier screening market. Growth drivers include expanding private healthcare, increasing fertility clinic activity, and improved genetic test access in urban centres. Key markets such as Brazil and Mexico are gradually adopting extended panels and partnering with global genomic providers. Challenges include cost constraints, lower awareness and less robust reimbursement frameworks, but rising demand for reproductive genetics and preventive health are supporting growth.

Middle East & Africa Carrier Screening Market Trends

The Middle East & Africa region is at an earlier stage of adoption but presents emerging opportunity for carrier screening. Countries in the Gulf region, South Africa and others are investing in fertility services, genetic testing and population health programmes. Growth is aided by rising healthcare expenditure, medical tourism, and increasing awareness of inherited disorders. However, limited infrastructure, high cost of testing and lower awareness remain constraints. Over time, with expanded screening programmes and regulatory support, adoption is projected to rise.

Top Key Players Carrier Screening Market:

1. Invitae Corporation
2. Eurofins Scientific
3. Fulgent Genetics
4. OPKO Health
5. Quest Diagnostics Incorporated
6. Myriad Genetics
7. Sema4
8. Thermo Fisher Scientific Inc.
9. Illumina Inc.
10. Natera Inc.

These companies are referenced in Vantage Market Research’s analysis of the carrier screening market.

Recent Developments

1. In June 2024, Illumina, Inc. launched DRAGEN v4.3 software for next-generation sequencing analysis, significantly enhancing accuracy and AI-driven variant calling for carrier screening applications.
2. In 2024, Myriad Genetics announced the launch of Foresight Plus, a next-generation carrier screening panel covering over 500 genes, enhancing rare disease screening capabilities.

These developments underscore the increasing focus on high-throughput, broader-panel screening solutions that address previously difficult-to-screen genes and support population-scale screening initiatives.

Market Scope

The Vantage Market Research report covers the global carrier screening market from the base year 2024 through to the forecast year 2035, providing metrics on market size, CAGR, segmentation (by type, technology, end-user and region), regional insights, key company profiles, and market dynamics including drivers, restraints, opportunities and challenges. The scope also includes competitive landscape analysis, segmentation insights for expanded vs targeted screening, detailed technology trends and end-user breakdowns.

Market Dynamics

Driver:

A key driver of the market is the growing awareness of inherited genetic disorders and the shift toward preventive reproductive health. More couples and individuals seek carrier screening as part of family planning, especially with rising maternal age and fertility interventions. Technological advancements (such as NGS and multi-gene panels) have made carrier screening more effective and accessible, further propelling demand.

Restraint:

One significant restraint is the cost and reimbursement barriers associated with genetic carrier screening, particularly in emerging markets and among under-insured populations. Additionally, ethical, privacy and regulatory concerns—including the interpretation of results and consent for broad panel testing—pose challenges to adoption and standardisation of screening practices.

Opportunity:

There is substantial opportunity in expanding screening access in emerging markets, integration of carrier screening into fertility/IVF workflows and adoption of direct-to-consumer/home-testing models. Development of broader gene panels, streamlined assays and partnerships between genomic companies and fertility clinics also open new growth horizons.

Challenges:

Key challenges include the lack of uniform screening guidelines, varying physician and consumer awareness levels, shortage of genetic counselling resources, and complexity of variant interpretation in multi-gene panels. Ensuring data privacy, managing incidental findings and integrating results into clinical workflows further complicate market advancement.

Market Segmentation

1. By Type: Expanded Carrier Screening, Targeted Disease Carrier Screening
2. By Technology: DNA Sequencing, Polymerase Chain Reaction (PCR), Microarrays, Others
3. By End-User: Hospitals & Clinics, Reference Laboratories, Physician Offices, Others
4. By Region: North America; Europe; Asia Pacific; Latin America; Middle East & Africa

Frequently Asked Questions

1. What is the estimated market revenue for the carrier screening market in 2024?

USD 2 billion.

1. What is the projected market size by 2035 and the CAGR from 2025 to 2035?

Projected size: USD 5.64 billion; CAGR: 9.95%.

1. Which type segment holds the largest market share?

Expanded carrier screening (ECS) holds the major share due to broad-panel testing across multiple conditions.

1. Which technology segment is leading?

DNA sequencing leads the technology segment, given its broad coverage and decreasing cost.

1. Which region dominates today and which region is growing fastest?

North America dominates currently; Asia Pacific is expected to grow fastest.

1. What are major growth drivers for this market?

Rising genetic disorder awareness, technological improvements in screening, rising maternal age/fertility demand.

1. What are major restraints/challenges?

High cost, reimbursement issues, regulatory/ethical concerns, limited awareness in emerging markets.

1. Which companies are leading the carrier screening market?

Companies such as Invitae, Eurofins, Fulgent Genetics, Myriad Genetics, Illumina, Natera, Thermo Fisher and Quest Diagnostics.