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 from The Business Research Company 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 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.
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.
Carrier Screening Global Market Report 2025 from The Business Research Company provides strategists, marketers and senior management with the critical information they need to assess the market.
This report focuses on carrier screening market which is experiencing strong growth. The report gives a guide to the trends which will be shaping the market over the next ten years and beyond.
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The report covers market characteristics, size and growth, segmentation, regional and country breakdowns, competitive landscape, market shares, trends and strategies for this market. It traces the market's historic and forecast market growth by geography.
The market characteristics section of the report defines and explains the market.
The market size section gives the market size ($b) covering both the historic growth of the market, and forecasting its development.
The forecasts are made after considering the major factors currently impacting the market. These include:
The forecasts are made after considering the major factors currently impacting the market. These include the Russia-Ukraine war, rising inflation, higher interest rates, and the legacy of the COVID-19 pandemic.
Market segmentations break down the market into sub markets.
The regional and country breakdowns section gives an analysis of the market in each geography and the size of the market by geography and compares their historic and forecast growth. It covers the growth trajectory of COVID-19 for all regions, key developed countries and major emerging markets.
The competitive landscape chapter gives a description of the competitive nature of the market, market shares, and a description of the leading companies. Key financial deals which have shaped the market in recent years are identified.
The trends and strategies section analyses the shape of the market as it emerges from the crisis and suggests how companies can grow as the market recovers.
Regions: Asia-Pacific; Western Europe; Eastern Europe; North America; South America; Middle East; Africa
Time series: Five years historic and ten years forecast.
Data: Ratios of market size and growth to related markets, GDP proportions, expenditure per capita,
Data segmentations: country and regional historic and forecast data, market share of competitors, market segments.
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Table of Contents
1. Executive Summary
2. Carrier Screening Market Characteristics
3. Carrier Screening Market Trends And Strategies
4. Carrier Screening Market - Macro Economic Scenario Including The Impact Of Interest Rates, Inflation, Geopolitics And Covid And Recovery On The Market
5. Global Carrier Screening Growth Analysis And Strategic Analysis Framework
5.1. Global Carrier Screening PESTEL Analysis (Political, Social, Technological, Environmental and Legal Factors, Drivers and Restraints)
5.2. Analysis Of End Use Industries
5.3. Global Carrier Screening Market Growth Rate Analysis
5.4. Global Carrier Screening Historic Market Size and Growth, 2019 - 2024, Value ($ Billion)
5.5. Global Carrier Screening Forecast Market Size and Growth, 2024 - 2029, 2034F, Value ($ Billion)
5.6. Global Carrier Screening Total Addressable Market (TAM)
6. Carrier Screening Market Segmentation
6.1. Global Carrier Screening Market, Segmentation By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Expanded Carrier Screening
Targeted Disease Carrier Screening
6.2. Global Carrier Screening Market, Segmentation By Medical Condition, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Pulmonary Conditions
Hematological Conditions
Neurological Conditions
Other Medical Conditions
6.3. Global Carrier Screening Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
DNA Sequencing
Polymerase Chain Reaction
Microarrays
Other Technologies
6.4. Global Carrier Screening Market, Segmentation By End User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Hospitals
Reference Laboratories
Physician Offices And Clinics
Other End Users
6.5. Global Carrier Screening Market, Sub-Segmentation Of Expanded Carrier Screening, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Whole Exome Sequencing (WES)
Next-Generation Sequencing (NGS) Panels
Comprehensive Carrier Screening Tests
6.6. Global Carrier Screening Market, Sub-Segmentation Of Targeted Disease Carrier Screening, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Single Gene Tests
Disease-Specific Panels
Ethnic Or Population-Specific Screening Tests
7. Carrier Screening Market Regional And Country Analysis
7.1. Global Carrier Screening Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
7.2. Global Carrier Screening Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion