Carrier Screening Market Size, Share & Trends Analysis Report By Medical Conditions (Spinal Muscular Atrophy, Cystic Fibrosis, Tay-Sachs, Gaucher Disease, Sickle Cell Disease), By Type, By Technology, By End-use, By Region, And Segment Forecasts, 2025 - 2

Carrier Screening Market Summary

The global carrier screening market size was estimated at USD 1,532.24 million in 2024 and is projected to reach USD 4,045.29 million by 2033, growing at a CAGR of 11.95% from 2025 to 2033. The rising prevalence of genetic disorders, technological advancements in genetic testing, growing awareness, and demand for personalized medicine are major factors driving the market’s growth.

For instance, according to the World Health Organization, around 10 in every 1,000 individuals are affected by rare single-gene disorders, translating to between 70 million and 80 million people worldwide living with such conditions. Sickle cell disease (SCD) alone impacts more than 100,000 people in the U.S., with a particularly high prevalence among people of African American origin.

The growing technological advancement in screening techniques, particularly in next-generation sequencing (NGS) and bioinformatics, has transformed the carrier screening market by improving accuracy, speed, and affordability. Traditional genetic screening tests typically focused on a limited set of conditions, targeting specific populations or high-risk groups. In contrast, modern NGS-based panels screen hundreds of genetic mutations in a single run, providing a much broader and more comprehensive assessment. For instance, in February 2025, F. Hoffmann-La Roche AG (Switzerland) introduced a new category of next-generation sequencing by expansion (SBX) technology, which is playing a vital role in decoding complex diseases like cancer, immune disorders and neurodegenerative conditions. This technology uses high throughput sensor module along with synthetic molecules in order to determine the DNA sequence of a target molecule.

Moreover, the expansion of the carrier screening industry is propelled by rising awareness of genetic risks and the global shift toward personalized medicine. Individuals and couples are becoming increasingly proactive in managing reproductive health, seeking genetic counseling along with screening. This reflects a growing understanding that carrier status has direct implications for family planning, pregnancy outcomes, and the health of future generations.

The foundation of carrier screening lies in raising awareness to improve health outcomes through early detection programs. Early programs such as Tay-Sachs disease screening in Ashkenazi Jewish communities demonstrated how education and testing could drastically reduce disease prevalence. Similarly, community-driven sickle cell screening efforts in African American populations underscored the importance of proactive engagement, though later government-led initiatives revealed the risks of poor implementation and misinformation. These historical lessons emphasize a broader trend toward personalized medicine, where individuals and communities increasingly seek genetic insights to make informed reproductive and healthcare decisions.

However, one of the major challenges in the market emerges as traditional short-read NGS struggles with complex regions of the genome, including repeat expansions, structural variants, methylation signatures, and high-homology genes. To address these gaps, innovations such as highly accurate long-read sequencing, including HiFi technologies, are emerging. For instance, in September 2025, PacBio launched its expanded PureTarget portfolio for high-throughput carrier screening, powered by HiFi sequencing technology. The solutions streamline workflows by consolidating multiple assays into a single scalable test, enabling accurate analysis of challenging genes.

Global Carrier Screening Market Report Segmentation

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest trends in each of the sub-segments from 2021 to 2033. For this study, Grand View Research has segmented the global carrier screening market report based on medical conditions, type, technology, end-use, and region:

• Medical Conditions Outlook (Revenue, USD Million, 2021 - 2033)
• Spinal Muscular Atrophy
• Cystic Fibrosis
• Tay-Sachs
• Gaucher Disease
• Sickle Cell Disease
• Others
• Type Outlook (Revenue, USD Million, 2021 - 2033)
• Expanded Carrier Screening
• Targeted Disease Carrier Screening
• Technology Outlook (Revenue, USD Million, 2021 - 2033)
• DNA Sequencing
• Polymerase Chain Reaction
• Microarrays
• Other Technologies (MLPA, Genotyping, Enzyme Screening)
• End-use Outlook (Revenue, USD Million, 2021 - 2033)
• Hospitals
• Laboratories
• Physician Offices & Clinics
• Other End Users
• Regional Outlook (Revenue, USD Million, 2021 - 2033)
• North America
• U.S.
• Canada
• Mexico
• Europe
• UK
• Germany
• France
• Italy
• Spain
• Denmark
• Sweden
• Norway
• Asia Pacific
• Japan
• China
• India
• Australia
• South Korea
• Thailand
• Latin America
• Brazil
• Argentina
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE
• Kuwait

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