Carrier Screening Market

Carrier Screening Market Size:

The global carrier screening market size reached USD 2.0 Billion in 2024. Looking forward, IMARC Group expects the market to reach USD 4.5 Billion by 2033, exhibiting a growth rate (CAGR) of 9.3% during 2025-2033. The global market is majorly driven by continual advancements in genetic technology, increasing awareness and demand for early genetic disorder detection, supportive government initiatives, rising incidence of genetic disorders, expansion of newborn screening programs, and the growing adoption of personalized medicine.

Carrier Screening Market Analysis:

• Major Market Drivers: Advancements in genetic technology, rising awareness of genetic disorders, government support, increasing prevalence of genetic conditions, and expansion of newborn screening programs are driving the global market.
• Key Market Trends: Key trends in the carrier screening market include the predominance of expanded carrier screening, the leading role of DNA sequencing technology, the dominance of hospitals and clinics, North America's largest market share, and the prominence of pulmonary conditions in medical condition-focused screening.
• Geographical Trends: North America leads due to advanced healthcare infrastructure and high awareness. Europe follows with increasing adoption of genetic testing. Asia-Pacific shows rapid growth driven by healthcare investments and rising awareness.
• Competitive Landscape: Some major market players in the carrier screening industry include Myriad Genetics, Invitae, Natera, Quest Diagnostics, Laboratory Corporation of America Holdings (LabCorp), and Illumina. These companies lead with advanced technologies and extensive service offerings.
• Challenges and Opportunities: Challenges include regulatory complexities and ethical considerations. Opportunities lie in technological advancements, expanding market reach, and increasing collaborations with healthcare providers to enhance service accessibility and efficacy.

Carrier Screening Market Trends:

Continual advancements in genetic technology 

Emerging innovations in genetic technology are supporting the carrier screening market growth. Advancements in molecular diagnostic testing have led to the development of newer and better methods, such as the next-generation sequencing (NGS) for screening several genetic disorders at once. These technological developments and improvements have not only contributed to the lowering of the cost of genetic testing, but also to its accessibility to the public. Healthcare providers are thus able to provide improved and accurate carrier screening, with numerous developments in the knowledge of genetic disorders to grow along with the enhancements in screening instruments contributing to the progress of the market for carrier screening.

Rising awareness and demand

The carrier screening market outlook is positive due to the rising demand for early genetic disorders detection. Carrier screening tests are also on the rise as more individuals and couples want to be protected from such inherited conditions. Increased education programs by health bodies and incorporating genetic counseling into standard healthcare services are supporting the growth of the market. Furthermore, as there is increasing awareness of genetic diseases, coupled with the shift for early detection of diseases and prevention, individuals are opting for carrier screening. This trend is expected to continue in the future, and maintain the market’s upward trend, as timely detection enhances the quality of life and reproductive choices.

Government roles and reimbursements

The carrier screening industry is propelled by governmental policies and actions, as well as a positive trend in reimbursement policies. Health and government policy makers are beginning to understand that pre-natal screenings are essential in preventing the spread of genetic disorders. Consequently, there are measures to introduce carrier screening into the list of mandatory services provided within the framework of state health care programs and insurance policies. These tests are growing popular as reimbursement policies have made them cheaper and thus more accessible to clients. Also, there is an increase in government funding that supports research and development in genetic screening technologies and therefore the expansion occurring in the industry. Such supportive measures are valuable as they help to facilitate the increased use of carrier screening, which in turn strengthens the industry.

Carrier Screening Market Segmentation:

IMARC Group provides an analysis of the key trends in each segment of the market, along with forecasts at the global, regional, and country levels for 2025-2033. Our report has categorized the market based on type, medical condition, technology and end user.

Breakup by Type:

• Expanded Carrier Screening
  • Customized Panel Testing
  • Predesigned Panel Testing
• Targeted Disease Carrier Screening
   

Expanded carrier screening accounts for the majority of the market share

The report has provided a detailed breakup and analysis of the market based on the type. This includes expanded carrier screening (customized panel testing and predesigned panel testing) and targeted disease carrier screening. According to the report, expanded carrier screening represented the largest segment.

Expanded carrier screening provides added information as to various conditions including rare ones, due to which it is a preferred option both by healthcare providers as well as the patients. Its ability to offer comprehensive results of an individual’s carrier status for multiple disorders in a single test has propelled its popularity. It also helps to provide better diagnostic accuracy and assists in making better decisions as to family planning and management. The increasing focus on the genetic health of both parents-to-be and the accessibility of new and more sophisticated carrier detection methods add to the continued popularity of more extensive carrier screening, which cements the leading position of the market.

Breakup by Medical Condition:

• Pulmonary Conditions
• Hematological Conditions
• Neurological Conditions
• Others
   

Pulmonary conditions holds the largest share of the industry

A detailed breakup and analysis of the market based on the medical condition have also been provided in the report. This includes pulmonary conditions, hematological conditions, neurological conditions, and others. According to the report, pulmonary conditions accounted for the largest market share.

Pulmonary conditions represents the largest market segment in the market. Diseases, including cystic fibrosis are more prevalent with serious effects on health, therefore, screening should be done early and correctly to contain the consequences. Current opinions regarding the importance of carrier screening for pulmonary conditions are also worth considering, as the timely identification of the potential carriers and the development of an effective treatment plan can ultimately save the patient’s life and improve their quality of living. Reliable screening tests and focus on the research aspect in the carrier field also play a key role in significant market share being dominated by the pulmonary conditions screening. The focus on disease prevention and genetic testing also bolster the centrality of pulmonary disorders in the sector more widely.

Breakup by Technology:

• DNA Sequencing
• Polymerase Chain Reaction
• Microarrays
• Others
   

DNA sequencing represents the leading market segment

The report has provided a detailed breakup and analysis of the market based on the technology. This includes DNA sequencing, polymerase chain reaction, microarrays, and others. According to the report, DNA sequencing represented the largest segment.

Carrier testing by DNA sequencing has been identified to be the most dominant segment within the market by technology. This enhanced science helps in the characterization of DNA materials by finding possible mutations that may determine the carrier status of such inherited ailments. Advancements in DNA sequencing such as high precision, efficiency in generating sequence data and the reduced cost compared to other methods have made DNA sequencing the carrier screening technique of choice. The need to make early provisions in cases of genetic disorders and diseases makes it instrumental in offering adequate and accurate genetic information. With the advancement in sequencing technology, carrier screening has been through more depth and spectrum in genetic analysis.

Breakup by End User:

• Hospitals and Clinics
• Reference Laboratories
• Others
   

Hospitals and clinics exhibits a clear dominance in the market

A detailed breakup and analysis of the market based on the end user have also been provided in the report. This includes hospitals and clinics, reference laboratories, and others. According to the report, hospitals and clinics accounted for the largest market share.

As per the carrier screening market trends, hospitals and clinics emerged as the leading segment for end user. These are the typical medical facilities where clients can get access to genetic diagnostics. Carrier testing involves the performance of exhaustive screening tests and subsequent counseling- an aspect that hospitals and clinics are well equipped to handle through their necessary infrastructure, personnel, and equipment. These services are translated to make access to carrier screening widespread since the facilities offering prenatal and preconception care incorporate this service. Also, the trust and credibility that are attributed to hospitals and clinics push more individuals into selecting carrier screening. With the existing expansion of genetic testing across these healthcare institutions, the market fundamentals are strengthened behind the key players, which positively contributes to the promotion of carrier screening services.

Breakup by Region:

• North America
  • United States
  • Canada
• Asia-Pacific
  • China
  • Japan
  • India
  • South Korea
  • Australia
  • Indonesia
  • Others
• Europe
  • Germany
  • France
  • United Kingdom
  • Italy
  • Spain
  • Russia
  • Others
• Latin America
  • Brazil
  • Mexico
  • Others
• Middle East and Africa
   

North America leads the market, accounting for the largest carrier screening market share

The report has also provided a comprehensive analysis of all the major regional markets, which include North America (the United States and Canada); Asia Pacific (China, Japan, India, South Korea, Australia, Indonesia, and others); Europe (Germany, France, the United Kingdom, Italy, Spain, Russia, and others); Latin America (Brazil, Mexico, and others); and the Middle East and Africa. According to the report, North America represents the largest regional market for carrier screening.

North America is the largest market share due to better healthcare facilities, increased awareness levels, and supportive government laws to carry out such genetic tests. The availability of all major genetic testing companies and the on-going research regarding genetics also play a role in placing the area at the top. In North America, there is a relatively greater focus on the prevention of diseases, and usage of carrier screenings is also relatively high. Moreover, the access to desirable insurance coverage for genetic tests creates additional demand for the market. The increased consumer interest in carrier screenings, especially in personalized medication and early disease diagnosis, and North America’s advanced healthcare industry as well as its active approach to genetic screening will continue to foster its growth in the global market.

Competitive Landscape:

The market research report has also provided a comprehensive analysis of the competitive landscape in the market. Detailed profiles of all major companies have also been provided. Some of the major market players in the carrier screening industry include

• Fulgent Genetics
• Gene By Gene Ltd. (MyDNA)
• Illumina Inc.
• Invitae Corporation
• MedGenome Labs Ltd.
• Myriad Genetics Inc.
• Natera Inc.
• OPKO Health Inc.
• Quest Diagnostics
• Sema4
• Thermo Fisher Scientific Inc.
   

(Please note that this is only a partial list of the key players, and the complete list is provided in the report.)

Career screening companies are rapidly increasing their technological advancement and market coverage. Myriad Genetics, Invitae, and Natera and various other genetic testing companies are also committing resources to the improvement of sensitivity and the expanding the list of diseases amenable to detection through genetic testing. They are also entering into various affiliation and service agreements with healthcare service providers and facilities to diversify their service delivery portfolios. These players are looking to adopt revolutionary technologies such as NGS that will enable them to make their carrier screening more accurate and inclusive. Also, they are to increase awareness efforts in promoting the use of carrier screening among the populace. Key strategies of the market identified as the improvement of accessibility by making prices more competitive, as well as the expansion of the territory, make certain critical players strengthen their positions and promote the development of the market.

Carrier Screening Market News:

• On 13^th September 2023, Devyser and Thermo Fisher Scientific collaborated to promote laboratory services to advance pharmaceutical research. The goal was to support their development projects utilizing Devyser’s unique assays in its CLIA-certified laboratory.
• On 11^th July 2023, Quest diagnostics launched its first consumer-focused genetic test, genetic insights. The new service help individuals to understand their risk of developing inheritable medical conditions. The service also includes personalized health reports and access to genetic counselling.
• On 2^nd March 2023, Illumina Inc. and Myriad Genetics Inc. announced the expansion of a strategic partnership to broaden access to and availability of oncology homologous recombination deficiency (HRD) testing.

Carrier Screening Market Report Scope:

Key Questions Answered in This Report:

• How has the global carrier screening market performed so far, and how will it perform in the coming years?
• What are the drivers, restraints, and opportunities in the global carrier screening market?
• What is the impact of each driver, restraint, and opportunity on the global carrier screening market?
• What are the key regional markets?
• Which countries represent the most attractive carrier screening market?
• What is the breakup of the market based on the type?
• Which is the most attractive type in the carrier screening market?
• What is the breakup of the market based on the medical condition?
• Which is the most attractive medical condition in the carrier screening market?
• What is the breakup of the market based on technology?
• Which is the most attractive technology in the carrier screening market?
• What is the breakup of the market based on the end user?
• Which is the most attractive end user in the carrier screening market?
• What is the competitive structure of the market?
• Who are the key players/companies in the global carrier screening market?

Key Benefits for Stakeholders:

• IMARC’s industry report offers a comprehensive quantitative analysis of various market segments, historical and current market trends, market forecasts, and dynamics of the carrier screening market from 2019-2033.
• The research report provides the latest information on the market drivers, challenges, and opportunities in the global carrier screening market.
• The study maps the leading, as well as the fastest-growing, regional markets. It further enables stakeholders to identify the key country-level markets within each region.
• Porter's five forces analysis assists stakeholders in assessing the impact of new entrants, competitive rivalry, supplier power, buyer power, and the threat of substitution. It helps stakeholders to analyze the level of competition within the carrier screening industry and its attractiveness.
• The competitive landscape allows stakeholders to understand their competitive environment and provides insight into the current positions of key players in the market.