The Carrier Screening Market is estimated to be valued at USD 1697.2 million in 2025 and is projected to reach USD 5462.6 million by 2035, registering a compound annual growth rate (CAGR) of 12.4% over the forecast period.
| Metric | Value |
|---|---|
| Carrier Screening Market Estimated Value in (2025 E) | USD 1697.2 million |
| Carrier Screening Market Forecast Value in (2035 F) | USD 5462.6 million |
| Forecast CAGR (2025 to 2035) | 12.4% |
The carrier screening market is expanding steadily due to growing awareness of genetic disorders, rising demand for early diagnosis, and advancements in genomics technologies. Increasing adoption of preventive healthcare practices and the availability of cost effective genetic testing are reinforcing the role of carrier screening in family planning decisions.
Regulatory support for genetic counseling and integration of advanced sequencing platforms into clinical workflows are also strengthening adoption. Improved accessibility of testing services across both developed and emerging regions is accelerating uptake.
The outlook for the market remains positive as healthcare providers and patients alike prioritize early risk identification and precision driven healthcare, creating opportunities for innovative testing platforms and service delivery models.
The market is segmented by Type, Medical Condition, Technology, and End User and region. By Type, the market is divided into Expanded Carrier Screening and Targeted Disease Carrier Screening. In terms of Medical Condition, the market is classified into Cystic Fibrosis, Tay-Sachs, Gaucher Disease, Sickle Cell Disease, Spinal Muscular Atrophy, and Other. Based on Technology, the market is segmented into DNA Sequencing, Polymerase Chain Reaction, Microarrays, and Other. By End User, the market is divided into Hospitals, Laboratories, Physician Offices & Clinics, and Other. Regionally, the market is classified into North America, Latin America, Western Europe, Eastern Europe, Balkan & Baltic Countries, Russia & Belarus, Central Asia, East Asia, South Asia & Pacific, and the Middle East & Africa.
The expanded carrier screening segment is projected to account for 54.70% of market revenue by 2025 within the type category, establishing it as the leading segment. Its dominance is supported by its ability to detect a wide range of genetic conditions across diverse populations, providing a more comprehensive risk assessment compared to targeted panels.
The rising awareness of rare genetic diseases and the availability of broad based screening panels have driven its adoption among both healthcare providers and patients.
As personalized medicine continues to advance, expanded carrier screening has gained traction as an essential tool in preventive reproductive healthcare, reinforcing its position as the most preferred type segment.
The cystic fibrosis segment is expected to hold 38.60% of market revenue by 2025 within the medical condition category, making it the leading condition tested in carrier screening. This dominance is attributed to the high prevalence of cystic fibrosis across various regions, the significant health burden it poses, and the availability of well established screening protocols.
Strong advocacy from healthcare organizations and regulatory recommendations for cystic fibrosis testing as part of routine reproductive planning have also supported widespread adoption.
The combination of clinical importance, regulatory guidance, and patient demand continues to reinforce cystic fibrosis as the largest contributor within the medical condition segment.
The DNA sequencing segment is expected to capture 57.20% of total market revenue by 2025 under the technology category, positioning it as the leading technology. This is driven by its superior accuracy, scalability, and capacity to analyze multiple genes simultaneously.
Falling sequencing costs and improvements in throughput have further expanded its adoption in clinical carrier screening. DNA sequencing enables more comprehensive detection of mutations compared to older technologies, which has strengthened its role in genetic testing strategies.
With continuous innovations in sequencing platforms and integration into clinical settings, this technology is expected to remain the cornerstone of carrier screening, ensuring its dominance in the technology segment.
A disease has a higher chance of being effectively treated or cured the earlier it is discovered. It might also be easy to cope with the sickness if it is treated at an early stage.
People can make important decisions about their support and health needs, as well as regarding legal and financial issues, in the early stages of a disease, which helps them plan. Disorders that are inherited include Tay-Sachs disease, sickle cell anemia, and cystic fibrosis.
For a couple with a genetic problem, carrier testing for these disorders can give information about the likelihood of producing a child. Pre-symptomatic/predictive testing refers to risk identification before the onset of symptoms. Many genetic diseases can be identified early on during pregnancy.
The carrier screening market is expanding as a result of consumer desire for reliable and secure carrier tests. The integration of carrier tests into routine clinical treatment benefits the industry commercially.
Particularly in affluent countries like England, France, the United States, Italy, Japan, and Germany, the average age of first-time mothers has been rising. The primary drivers of maternal age advancement are a stable financial situation, rising literacy rates, and social variables. This results in surging carrier screening market adoption trends.
Maternal age increases are directly correlated with the probability of catastrophic chromosomal abnormalities. The average maternal age is increasing, which is predicted to raise the incidence of chromosomal abnormalities and increase the demand for carrier screening.
The carrier screening market on a global scale was estimated in 2020 to be worth USD 946 billion and is anticipated to expand at a CAGR of 11.7% from 2020 to 2024. In 2024, the market was estimated to be worth another USD 946 billion. The market's estimated value in 2020 was USD 1.13 billion.
The carrier screening industry is expected to increase at a faster rate than average during the forecast period, due to reasons such as the growing emphasis on early illness identification and prevention, rising customized medicine acceptance, and rising use of regular testing for genetic abnormalities.
Due to the region's growing prevalence of neurological, hematological, and pulmonary problems, as well as the consequent increase in the demand for testing, North America held a sizable market share in 2024.
The population's ethical concerns about carrier screening and the strict laws governing the clearance of carrier screening tests are impeding carrier screening market expansion. The lack of consistency among laboratories, the administration of pre- and post-test follow-up, and provider misconceptions are further implementation challenges that are projected to impede market expansion.
The price of carrier testing is probably going to limit market expansion. Since there is no requirement to take the test, insurance firms are free to set the terms and conditions following their policies. As a result, out-of-pocket costs may increase by an additional USD 100 to USD 1,000.
| Attributes | Details |
|---|---|
| Expanded Carrier Screening - CAGR | 12.9% |
With a 12.9% CAGR between 2025 and 2035, the expanded carrier screening (ECS) market is predicted to grow at a significant rate and generate the most revenue. The ECS is a new type of carrier screening that screens for a wide range of genetic illnesses, regardless of ethnic background. To increase their carrier screening market share, companies in the industry are engaging in strategic efforts, such as product development.
The company's enhanced test gives customers the option to ask for single- or multi-gene repeat expansion assessments. Consequently, it is anticipated that the informative test is poised to increase the test's utilization and help with individualized medical management.
The demand for carrier screening is likely to increase as people become more aware of genetic illnesses.
Multiple test types are supported by the program, including carrier screening, NIPT, and hereditary cancer. The main tests in carrier screening include a panel for SMA/CF, a screening for fragile X, a panel for Ashkenazi Jews, and a comprehensive panel based on guidelines.
Over 1,300 genetic diseases with recessive inheritance harm babies. The American College of Obstetricians and Gynecologists advises making carrier screening mandatory for all expectant mothers. According to estimates, carrier screening should pay particular attention to Cystic Fibrosis (CF).
When both parents carry the gene for cystic fibrosis, there is a 25% risk that the child is also going to have the condition, while there is a 50% chance that the infant is poised to only be a carrier. Similarly, one of the common recessive illnesses is Spinal Muscular Atrophy (SMA). A non-functional copy of SMN1 was inherited from parents in around 98% of afflicted instances.
This results in the escalation of carrier screening market trends.
| Attributes | Details |
|---|---|
| DNA Sequencing Segment Share | 39.9% |
With a market share of 39.9%, the DNA sequencing market category ruled the overall carrier screening market.
The carrier screening tests are performed at several prenatal diagnostics clinics that use sequencing technologies.
Chromosome micro-array and next-generation sequencing technologies are two examples of how technology is advancing quickly in the market.
The full-exon gene sequencing method based on NGS can find high carriers, according to the National Tay-Sachs and Allied Diseases Association. In terms of Tay-Sachs carrier screening, genotyping is thought to be less sensitive than NGS technology.
| Attributes | Details |
|---|---|
| Laboratory Segment Share | 47.1% |
With 47.1% carrier screening market share throughout the forecast period, the laboratory segment dominated the global market. Market participants are developing investment proposals as a result of the rising demand for genetic testing.
Considered to be the principal suppliers of sequencing solutions to the labs are Oxford Nanopore, Illumina, and ThermoFisher. To incorporate carrier screening services, the end-users are engaging in vertical acquisitions and mergers.
The rising use of carrier screening services in-house by end users is predicted to significantly affect the market's estimated value.
| Attributes | Details |
|---|---|
| Market Share | 40.19% |
With a share of 40.19% between 2035 and 2035, the North American carrier screening market is anticipated to have a commanding position in the industry. Since this area has a sophisticated and effective healthcare system.
The presence of several important firms in the North American region provides a competitive edge for market expansion. The industry is predicted to grow because there is a significantly higher awareness of chromosomal problems and how to prevent them in the area.
Hematological and neurological problems are more prevalent in North America, which reinforces the need for screening testing.
Due to the improved infrastructure of healthcare facilities, thoughtfully crafted reimbursement policies, and improving growth of economic elements, Asia Pacific is predicted to experience a large increase in the carrier screening market. The market is poised to grow as non-profit groups in the area take more initiatives.
Future growth is anticipated to be rapid in the Asia Pacific. The market is being driven by key competitors' growing investments, particularly in China and India. It is believed that the growing senior population and increased awareness of genetic illnesses are poised to fuel the market.
To expand the carrier screening market globally1697.2 businesses and service providers are using tactics including technological development and discovery1697.2 vertical collaboration1697.2 building a strong product portfolio through startups1697.2 mergers and acquisitions1697.2 and regional expansion.
Recent Development:
Funding
| Date | March 2025 |
|---|---|
| Company | Billion to One |
| Details | With significant support from Baillie Gifford1697.2 Neotribe Ventures1697.2 Norwest Venture Partners1697.2 Civilization Ventures1697.2 Fifty Years VC1697.2 Pacific 8 Ventures1697.2 Time BioVentures1697.2 and Libertus Capital1697.2 among others1697.2 Billion to One raised USD 125 million in Series C funding in March 2025. This round of funding was co-led by Adams Street Partners and existing investor Hummingbird Ventures. |
Launch
| Date | January 2025 |
|---|---|
| Company | Mitera |
| Details | Peaches& Me and 23 Pears1697.2 Mitera's at-home reproductive genetic testing tools1697.2 are available in all 50 states from January 20251697.2 the company revealed. It conducts screenings for ailments like down syndrome. |
| Date | June 2020 |
|---|---|
| Company | QIAGEN |
| Details | QIAGEN announced to launch QIAseq1697.2 an enhanced carrier screening panel1697.2 in June 2020. By providing information on the targets and genes1697.2 it is used to identify more than 200 disorders. |
| Date | 2020 |
|---|---|
| Company | OPKO Health |
| Details | In 20202097.2 the OPKO Health subsidiary GenPath Women's Health introduced the CalriTest1697.2 a non-invasive prenatal screening method. This tool is poised to make it easier to spot faulty chromosomes. |
| Date | 2020 |
|---|---|
| Company | Invitae Corporation |
| Details | Invitae Corporation introduced its comprehensive genetic screening tool in 2020. |
Partnership
| Date | April 2024 |
|---|---|
| Company | Illumina |
| Details | Based on the data from Illumina's comprehensive genomic profile test1697.2 TruSight Oncology1697.2 Kartos Therapeutics1697.2 Inc.1697.2 and Illumina established a partnership in April 2024 to jointly develop a TP53 companion diagnostic (CDx). It is poised to increase the range of TruSight Oncology's services1697.2 to include hematopoietic cancers of illumination. |
| Date | January 2020 |
|---|---|
| Company | Fulgent |
| Details | To provide Columbia patients with on-site performed1697.2 expanded carrier screening1697.2 Fulgent and Precision Genomics Laboratory (PGL) partnered in January 2020. To produce an enhanced carrier screening test with many advantages over other currently available tests1697.2 this alliance is poised to make use of both sides' expertise in laboratory management1697.2 bioinformatics1697.2 clinical genetics1697.2 and next-generation sequencing. |
The global carrier screening market is estimated to be valued at USD 1,697.2 million in 2025.
The market size for the carrier screening market is projected to reach USD 5,462.6 million by 2035.
The carrier screening market is expected to grow at a 12.4% CAGR between 2025 and 2035.
The key product types in carrier screening market are expanded carrier screening and targeted disease carrier screening.
In terms of medical condition, cystic fibrosis segment to command 38.6% share in the carrier screening market in 2025.
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