Expanded Carrier Screening Market Report 2025

The expanded carrier screening market size has grown rapidly in recent years. It will grow from $2.11 billion in 2024 to $2.46 billion in 2025 at a compound annual growth rate (CAGR) of 16.9%. The growth in the historic period is attributed to increasing awareness of genetic disorders, wider availability of genetic counseling services, rising demand for early diagnosis in reproductive health, expansion of prenatal and preconception testing programs, and growing preference for preventive healthcare.

The expanded carrier screening market size is expected to see rapid growth in the next few years. It will grow to $4.54 billion in 2029 at a compound annual growth rate (CAGR) of 16.5%. The growth in the forecast period is driven by increasing demand for personalized reproductive medicine, rising adoption of expanded carrier screening in emerging markets, greater consumer access to at-home genetic testing kits, growth in employer-sponsored genetic testing benefits, and a rising need to identify carriers in multicultural populations. Key trends in the forecast period include advancements in next-generation sequencing, development of AI-powered genetic risk prediction models, creation of point-of-care genetic testing platforms, integration with electronic health records, and innovations in multiplexed genetic testing platforms.

The increasing prevalence of genetic diseases is contributing to the growth of the expanded carrier screening market. These diseases, caused by mutations or abnormalities in an individual's DNA, may be inherited or arise spontaneously. Advances in diagnostic technologies, particularly next-generation sequencing, have improved the ability to detect a broader range of genetic disorders, including those that previously went undiagnosed or misclassified. Expanded carrier screening identifies individuals who carry genetic conditions before symptoms are present, allowing for informed reproductive planning and reducing the risk of passing inherited conditions to future generations. For example, in October 2024, the Cystic Fibrosis Trust reported that the number of registered cystic fibrosis patients increased from 11,148 in 2022 to 11,318 in 2023, a 1.5% year-over-year rise. This trend highlights the growing need for comprehensive genetic screening, supporting market growth.

Companies in the expanded carrier screening market are advancing genetic testing through the development of high-accuracy, multi-gene panels designed to detect a wide range of inherited disorders. These comprehensive next-generation sequencing (NGS)-based panels analyze multiple genes simultaneously, offering greater accuracy and efficiency in identifying genetic risks. In February 2023, Fulgent Genetics Inc., a U.S.-based genomic testing company, introduced the Beacon787 Expanded Carrier Screening Panel, which assesses 787 genes associated with severe inherited conditions. Covering over 700 autosomal recessive and X-linked disorders, including all Tier 3 genes, the panel uses advanced NGS technology to provide high analytical accuracy, pan-ethnic relevance, and a turnaround time of two to three weeks. This solution is positioned as one of the most precise and inclusive options for reproductive genetic screening.

In January 2024, Natera Inc., a U.S.-based genetic testing company, acquired reproductive health assets from Invitae Corporation for $52.5 million. This acquisition aims to enhance Natera’s reproductive health offerings by incorporating Invitae’s carrier screening and non-invasive prenatal testing services. The move allows Natera to strengthen its position in the reproductive genetics space, while Invitae shifts its focus toward core areas in oncology and rare disease testing. Invitae Corporation provides a broad range of genetic testing services, including carrier screening, diagnostic testing, and hereditary disease analysis.

Major players in the expanded carrier screening market are Thermo Fisher Scientific Inc., Labcorp Holdings Inc., Quest Diagnostics Incorporated, Eurofins Scientific SE, Illumina Inc., Natera Inc., Myriad Genetics Inc., Fulgent Genetics Inc., BGI Genomics Co. Ltd., Ambry Genetics Corporation, GeneDx Inc., BillionToOne Inc., MedGenome Labs Ltd., Centogene N.V., Baylor Miraca Genetics Laboratories LLC, Victorian Clinical Genetics Services, Pathkind Diagnostics Private Limited, Medicover Genetics GmbH, NxGen MDx LLC, GeneTech.

North America was the largest region in the expanded carrier screening market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in expanded carrier screening report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the expanded carrier screening market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report’s Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the healthcare sector, particularly in the supply of critical medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are facing higher costs for imported surgical instruments, imaging equipment, and consumables such as syringes and catheters, many of which have limited domestic alternatives. These increased costs are straining healthcare budgets, leading some providers to delay equipment upgrades or pass on expenses to patients. Additionally, tariffs on raw materials and components are disrupting the production of essential drugs and devices, causing supply chain bottlenecks. In response, the industry is diversifying sourcing strategies, boosting local manufacturing where possible, and advocating for tariff exemptions on life-saving medical products.

Expanded carrier screening refers to a genetic test that examines a wide panel of genes to determine if individuals carry mutations linked to inherited genetic disorders. It is commonly used before or during pregnancy to evaluate the risk of passing genetic conditions to offspring, irrespective of ethnicity or family history.

The primary types of expanded carrier screening are customized panel testing and pre-designed panel testing. Customized panel testing involves genetic tests tailored to an individual’s family history, ethnicity, or specific medical needs to identify potential carrier risks. These tests utilize technologies such as DNA sequencing, polymerase chain reaction (PCR), microarrays, and others. Applications include preconception and prenatal screening. Key end-users include hospitals, diagnostic laboratories, research laboratories, specialty clinics, and related facilities.

The expanded carrier screening market research report is one of a series of new reports that provides expanded carrier screening market statistics, including expanded carrier screening industry global market size, regional shares, competitors with a expanded carrier screening market share, detailed expanded carrier screening market segments, market trends and opportunities, and any further data you may need to thrive in the expanded carrier screening industry. This expanded carrier screening market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

The expanded carrier screening market consists of revenues earned by entities by providing services such as genetic panel testing, counseling services, bioinformatics analysis, sample collection and processing, and customized panel design. The market value includes the value of related goods sold by the service provider or included within the service offering. The expanded carrier screening market also includes sales of next-generation sequencing (NGS) panels, microarray-based screening kits, sample collection kits, lab automation systems, and genotyping assays. Values in this market are ‘factory gate’ values; that is, the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors, and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values and are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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