Carrier Screening Market Report 2025

The carrier screening market size has grown rapidly in recent years. It will grow from $2.72 billion in 2024 to $3.17 billion in 2025 at a compound annual growth rate (CAGR) of 16.4%. The growth in the historic period can be attributed to increasing genetic disorders awareness, rising maternal age, family planning and pregnancy awareness, prevention of genetic diseases, public health initiatives, increased focus on inherited conditions.

The carrier screening market size is expected to see rapid growth in the next few years. It will grow to $5.76 billion in 2029 at a compound annual growth rate (CAGR) of 16.2%. The growth in the forecast period can be attributed to precision medicine advancements, expanded panel offerings, consumer genomics and direct-to-consumer testing, focus on rare and ultra-rare diseases, government and insurance support, pharmacogenomics integration. Major trends in the forecast period include advancements in genetic technologies, integration with prenatal testing, rise in personalized medicine, counseling and education services, ethical and legal considerations.

The anticipated increase in fetal chromosomal abnormalities and genetic disorders is set to drive the growth of the carrier screening market. Fetal chromosomal abnormalities involve deviations in the number or quantity of DNA within a chromosome, impacting a fetus. Prenatal testing for chromosomal abnormalities plays a crucial role in assessing the risk of carrying a fetus with such disorders. According to estimates from the World Health Organization in February 2022, birth defects contribute to the demise of 240,000 newborns in the first 28 days annually, with an additional 170,000 deaths among children aged 1 month to 5 years. Additionally, an article by the United Nations Government in March 2022 highlights that Down syndrome affects 1 in 1,000 to 1 in 1,100 live births globally, resulting in 3,000 to 5,000 annual births. This surge in fetal chromosomal abnormalities and genetic disorders is a significant driver for the growth of the carrier screening market.

The growing geriatric population is projected to enhance the growth of the carrier screening market in the future. The geriatric population refers to individuals who are elderly or older in age. Older adults, particularly those considering parenthood later in life, may choose carrier screening as part of their prenatal or preconception care to assess the genetic risks linked to advanced parental age. For instance, in October 2024, the World Health Organization, a Switzerland-based intergovernmental organization, indicated that by 2030, 1 in 6 people globally will be aged 60 years or older. By 2050, the global population of individuals aged 60 and above is expected to double, reaching 2.1 billion. Additionally, the number of people aged 80 and older is anticipated to triple from 2020 to 2050, reaching 426 million. The rate of population aging is accelerating compared to previous years. Therefore, the rising geriatric population is propelling growth in the carrier screening market.

Major companies in the carrier screening market are concentrating on product developments, such as screening tests family, to maintain their market positions. Screening tests, aimed at asymptomatic individuals, are crucial in identifying risks associated with various conditions, including those related to pregnancy, family planning, and overall health. For example, Blueprint Genetics, a Finland-based genetic testing and diagnostics company, introduced the Screening Tests family in June 2023. This offering aims to provide actionable information for proactive decision-making related to family planning and health, supporting individuals in making informed choices about their well-being.

In the carrier screening market, major companies are also focusing on product developments, such as carrier screening panels, to sustain their market positions. Carrier screening panels involve genetic tests to identify individuals carrying gene mutations for specific conditions, even without exhibiting symptoms. In February 2023, Fulgent Genetics, Inc., a US-based genetic testing and diagnostics company, launched the Beacon787 expanded carrier screening panel. This comprehensive panel covers 787 genes associated with autosomal recessive and X-linked conditions, aligning with guidelines advocating for comprehensive screening for all pregnant and planning individuals. Fulgent's Beacon787 aims to provide equitable and pan-ethnic screening, emphasizing its commitment to advancing genetic testing and promoting informed family planning decisions.

In a strategic move, Sema4 OpCo Inc., a US-based provider of patient-focused health intelligence, acquired GeneDx LLC for $623 million in May 2022. This acquisition positions Sema4 as a prominent genomic testing company in the United States, enhancing its health information database and contributing to improved patient care and therapeutic research. GeneDx LLC, a US-based company specializing in the analysis of rare disorders and genomic testing, becomes an integral part of Sema4's commitment to advancing genomic insights in healthcare.

Major companies operating in the carrier screening market are Invitae Corporation, BGI Genomics Co. Ltd., Centogene NV, Eurofins Scientific SE, Fulgent Genetics Inc., Genealogy by Genetics Ltd., Illumina Inc., Laboratory Corporation of America Holdings, Luminex Corporation, MedGenome Inc., Myriad Genetics Inc., Natera Inc., OPKO Health Inc., Otogenetics Corporation, Quest Diagnostics Inc., Sema4 Holdings Corporation, Thermo Fisher Scientific Inc., 23andMe Holding Co., REALM IDx Inc., Associated Regional and University Pathologists Inc., Genedx LLC, Genomic Health Inc., GenPath Consultants And Technologies Private Limited, Good Start Genetics Inc., NIPD Genetics Co. Pvt. Ltd., OraSure Technologies Inc., Pathway Genomics Corp., PerkinElmer Inc., PreventionGenetics LLC, Progenity Inc.

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

Carrier screening is a genetic testing method designed to identify the presence of genes associated with specific genetic illnesses. This screening helps determine if individuals carry a gene mutation that, when present in two copies, can lead to hereditary diseases.

Two primary types of carrier screening are utilized such as expanded carrier screening and targeted disease carrier screening. Expanded carrier screening offers assessment for multiple autosomal and X-linked recessive disorders, leveraging advanced genetic testing technologies. This approach allows testing for individuals regardless of their ancestry or geographic origin. The products and services associated with carrier screening fall into the categories of service and product. The medical conditions covered include pulmonary conditions, hematological conditions, neurological conditions, and other relevant medical conditions. The technologies involved in carrier screening encompass DNA sequencing, polymerase chain reaction, microarrays, and various other technologies. Carrier screening services are utilized by a range of end users, including hospitals, reference laboratories, physician offices and clinics, and other entities involved in healthcare and genetic testing.

The carrier screening market research report is one of a series of new reports that provides carrier screening market statistics, including carrier screening industry global market size, regional shares, competitors with a carrier screening market share, detailed carrier screening market segments, market trends and opportunities, and any further data you may need to thrive in the carrier screening industry. This 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 carrier screening market includes revenues earned by entities by providing customized panel testing and predesigned panel testing. The market value includes the value of related goods sold by the service provider or included within the service offering. Only goods and services traded between entities or sold to end consumers are included.

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 that 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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