U.S. Carrier Screening Market Outlook to 2028

U.S. Carrier Screening Market Overview 

The U.S. Carrier Screening Market is valued at USD 720 million, based on a five-year historical analysis, driven by the increasing awareness of genetic disorders, advancements in screening technologies, and rising demand for early detection in at-risk populations. The market has seen significant growth due to the expansion of testing options and the broader acceptance of genetic screening as part of routine prenatal care. 

Major metropolitan areas such as New York, Los Angeles, and Chicago are key drivers of this market, benefiting from the high concentration of advanced healthcare facilities, fertility clinics, and specialized genetic counseling centers. In rural areas, the demand for carrier screening is growing as healthcare access improves, particularly through telemedicine, enabling broader reach of genetic services across underserved regions. 

The Genetic Information Nondiscrimination Act (GINA) remains a vital law governing the use of genetic information in the U.S. healthcare system. Enacted to protect individuals from discrimination based on their genetic data, GINA ensures that genetic information cannot be used by employers or insurers to make decisions.  

U.S. Carrier Screening Market Segmentation 

By Type of Test: The market is segmented into expanded carrier screening, targeted carrier screening, and single gene testing. Expanded carrier screening dominates the market due to its ability to test for multiple genetic conditions at once, offering broader insights for potential genetic risks. Targeted carrier screening, focusing on specific populations with known genetic risks, also holds a significant share, while single gene testing is seeing growth in cases with family histories of specific disorders. 

By Technology: The market is segmented by technology into next-generation sequencing (NGS), polymerase chain reaction (PCR), and microarray technology. NGS holds the largest market share due to its accuracy, cost-effectiveness, and ability to sequence large portions of the genome. PCR remains popular for targeted gene tests, while microarray technology is used for more specialized applications, particularly in research settings. 

U.S. Carrier Screening Market Competitive Landscape 

The U.S. Carrier Screening Market is highly competitive, with several key players continuously innovating and expanding their test offerings. Major players include Myriad Genetics, Invitae, Natera, Quest Diagnostics, and Labcorp. These companies are investing in the development of comprehensive carrier screening panels, partnering with healthcare providers, and utilizing advanced technologies such as next-generation sequencing to maintain a competitive edge. 

Company Name
 

Establishment Year 

Headquarters 

No. of Employees 

Revenue (USD) 

Key Products 

Sustainability Initiatives 

Geographical Reach 

Technology Adoption 

Partnerships 

Myriad Genetics 

1991 

Salt Lake City, UT 

Invitae 

2010 

San Francisco, CA 

Natera 

2004 

San Carlos, CA 

Quest Diagnostics 

1967 

Secaucus, NJ 

Labcorp 

1978 

Burlington, NC 

U.S. Carrier Screening Industry Analysis 

Growth Drivers
 

Increasing Prevalence of Genetic Disorders: The rising prevalence of genetic disorders in the U.S. has significantly driven the demand for carrier screening. In 2023, the CDC reported over 12,000 infants born annually with a genetic or metabolic condition detected through newborn screening. This high number underscores the need for genetic carrier testing to identify potential hereditary risks. According to the National Institutes of Health (NIH), cystic fibrosis and sickle cell anemia are among the most common genetic disorders in the U.S., with cystic fibrosis affecting 30,000 individuals. The increasing incidence of these disorders makes carrier screening essential for early detection and treatment strategies.  

Growing Adoption of Expanded Carrier Screening Panels: In 2024, expanded carrier screening panels, which test for hundreds of genetic conditions, have seen widespread adoption due to their comprehensive coverage. NIH data confirms that more than 7,000 rare diseases affect over 25 million people in the U.S. Expanded carrier panels provide a broader scope of testing, allowing healthcare professionals to detect multiple genetic conditions in one screening. The American College of Obstetricians and Gynecologists recommends that expanded panels be offered to all individuals planning pregnancies, reflecting the growing demand for more inclusive carrier testing. 

Rising Demand for Personalized Medicine: Personalized medicine is gaining momentum in the U.S., with a notable impact on carrier screening. The FDA reports an increase in the use of genomic information to tailor medical treatments based on an individual’s genetic makeup. Genetic tests like carrier screenings are vital for identifying hereditary conditions that can affect treatment plans. In 2022, the Precision Medicine Initiative, launched by the National Institutes of Health, accelerated the use of genetic data in healthcare, particularly for rare diseases. This growing reliance on tailored medical approaches increases the demand for carrier screening to personalize treatments. 

Market Challenges
 

Ethical and Privacy Concerns in Genetic Testing: Privacy issues surrounding genetic data remain a significant challenge in carrier screening. In 2024, the Genetic Information Nondiscrimination Act (GINA) continues to address these concerns by preventing the misuse of genetic information. However, ethical dilemmas persist regarding the ownership of genetic data, with majority of Americans expressing concerns about the security of their genetic information, according to a 2022 survey by the Pew Research Center. GINA and other federal guidelines aim to alleviate these concerns, but the debate over data protection and privacy in genetic testing is ongoing. Source: GINA 

Regulatory Scrutiny (FDA regulations, Genetic Information Nondiscrimination Act): The U.S. carrier screening market faces rigorous regulatory scrutiny, particularly from the FDA and under GINA. As of 2023, the FDA introduced tighter regulations on genetic testing kits to ensure accuracy and safety. The Genetic Information Nondiscrimination Act remains a cornerstone law, protecting individuals from discrimination based on their genetic data. Nonetheless, compliance with these regulations adds complexity to the carrier screening industry, as companies must navigate stringent guidelines to avoid legal and ethical pitfalls, making the regulatory environment a significant market challenge. 

U.S. Carrier Screening Market Future Outlook 

The U.S. Carrier Screening Market is expected to grow steadily over the next five years, driven by increased awareness of genetic conditions, advancements in screening technologies, and rising demand for personalized healthcare solutions. With a growing focus on preventative care, carrier screening will become an integral part of family planning and prenatal care. 

Future Market Opportunities 

Expansion in Direct-to-Consumer Genetic Testing: Direct-to-consumer genetic testing presents a growing opportunity in the U.S. carrier screening market. A 2023 report from the U.S. Census Bureau revealed that more than 14 million people have already used genetic testing services like 23and Me globally. As these services become more affordable and widely accepted, they offer a pathway for consumers to access carrier screening without physician referrals, increasing market penetration. This shift toward consumer-driven testing provides an untapped avenue for growth, especially among health-conscious individuals seeking early genetic insights.  

Integration with Telemedicine Platforms: Telemedicine has expanded dramatically in the U.S., particularly following the COVID-19 pandemic. The U.S. Department of Health and Human Services (HHS) reported a 38-fold increase in telemedicine visits from 2019 to 2023. This rise presents an opportunity for the integration of genetic counseling and carrier screening services through digital platforms. Offering genetic screening via telemedicine reduces geographical barriers, improves patient convenience, and allows for timely consultations with genetic counselors, particularly in underserved regions where healthcare access is limited.
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