Towards Healthcare
Carrier Screening Market to Rise at 19.65% CAGR till 2034

Carrier Screening Market Future Demand Driven by IVF Growth

Market insights predict, the carrier screening industry is expected to grow from USD 2.58 billion in 2024 to USD 15.5 billion by 2034, driven by a CAGR of 19.65%.  An immense growth in prenatal screening programs and early detection is mainly influencing the global market expansion. Whereas, the presence of robust healthcare policies and systems is fueling North America’s market development.

Category: Biotechnology Insight Code: 6062 Format: PDF / PPT / Excel

The global carrier screening market size is calculated at US$ 2.58 billion in 2024, grew to US$ 3.09 billion in 2025, and is projected to reach around US$ 15.5 billion by 2034. The market is expanding at a CAGR of 19.65% between 2025 and 2034.

Carrier Screening Market Size 2024 to 2034

In 2025, ongoing advancements in genetic techniques, especially next-generation sequencing, expanded carrier screening, PGT, and other major techniques, are boosting the expansion of the global carrier screening market. Along with this, the increasing awareness regarding genetic disorders and preconceptions is assisting in the widespread application of these groundbreaking approaches for early disease detection and further risk assessment. Alongside, the globe is experiencing a huge growth in vitro fertilization (IVF), with preimplantation genetic testing (PGT) or using donor gametes is fueling a broader adoption of sophisticated screening techniques.

Key Takeaways

  • Carrier screening industry poised to reach USD 2.58 billion by 2024.
  • Forecasted to grow to USD 15.5 billion by 2034.
  • Expected to maintain a CAGR of 19.65% from 2025 to 2034.
  • North America dominated the market with a 42% share in 2024.
  • Asia Pacific is expected to be the fastest-growing region in the global carrier screening market during the forecast period.
  • By test type, the expanded carrier screening panels segment held the dominating share of 50% in 2024.
  • By test type, the customized carrier screening panels segment is expected to witness a rapid expansion in the studied years.
  • By technology, the next-generation sequencing (NGS) segment dominated the market with 55% revenue share in 2024.
  • By technology, the DNA microarrays segment is expected to grow at the fastest CAGR during 2025-2034.
  • By indication, the cystic fibrosis (CF) segment held a 35% revenue share of the global carrier screening market in the coming years.
  • By indication, the spinal muscular atrophy (SMA) segment is expected to register the fastest growth in the predicted timeframe.
  • By end use, the reference laboratories segment was dominant in the market by capturing a 40% share in 2024.
  • By end use, the specialty clinics segment is expected to grow rapidly during the forecast period.
  • By patient group, the prenatal & preconception couples segment led with a 48% share of the global carrier screening market in 2024.
  • By patient group, the general population segment is expected to be the fastest-growing during 2025-2034.

Key Indicators and Highlights

Table Scope
Market Size in 2025 USD 3.09 Billion
Projected Market Size in 2034 USD 15.5 Billion
CAGR (2025 - 2034) 19.65%
Leading Region North America 
Market Segmentation By Test Type, By Technology, By Indication, By End Use, By Patient Group, By Region
Top Key Players Illumina Inc., Thermo Fisher Scientific Inc., Natera Inc., Myriad Genetics Inc., Invitae Corporation, Fulgent Genetics, Eurofins Scientific, Centogene N.V., OPKO Health (GeneDx), Laboratory Corporation of America Holdings (Labcorp), Quest Diagnostics Incorporated, 23andMe, Inc., BGI Genomics Co., Ltd., Color Health, Inc., Sema4, Ambry Genetics, Baylor Genetics, MedGenome Inc., Dante Labs, PerkinElmer Inc.

Market Overview

The carrier screening market refers to genetic testing solutions designed to identify individuals or couples who carry one or more mutations in their genes that could be passed on to offspring, leading to inherited genetic disorders. Carrier screening is widely used in family planning, preconception, and prenatal care to assess the risk of conditions such as cystic fibrosis, spinal muscular atrophy, thalassemia, sickle cell disease, and other rare autosomal recessive or X-linked disorders. These tests are increasingly performed using next-generation sequencing (NGS), microarrays, and polymerase chain reaction (PCR) technologies, allowing for high accuracy and broad panel testing. Growth is supported by rising awareness of genetic health, advancements in precision medicine, integration into routine obstetric practice, and gove ment recommendations for population-based screening. The market is expanding globally with strong adoption in North America, Europe, and rapidly in the Asia Pacific.

What are the Major Drifts in the Carrier Screening Market?

  • In 2025, the growing demand for tailored medicine, supportive gove ment initiatives, and expanding healthcare infrastructure are fueling the comprehensive expansion of the market.
  • In June 2025, Lexeo Therapeutics secured $40 million investment for cardiac genetic disease therapies using a novel non-viral RNA platform.
  • In February 2025, Ubie, a global healthcare AI platform, and Nucleus Genomics, the next-generation genetic testing and analysis company, entered into a strategic partnership to expand access to genetic screening and early disease detection.
  • In January 2025, Singapore-headquartered healthcare investor August Global Partners (AGP) invested in Vietnam-based genomic testing company Gene Solutions (GS) through a proprietary funding round.

How is AI Impacting the Carrier Screening Market?

Ongoing advancements in innovative genetic testing technologies are fostering the application of AI algorithms to boost risk assessment, optimize the precision of genetic analysis, and simplify the testing process. Whereas, in 2025, AI-driven platforms have immense significance in personalized genetic counselling, explaining test results and consent processes digitally, particularly fruitful in the lack of genetic counsellors. In the identification of carriers of genetic mutations, AI assists in making informed decisions about family planning and minimizes the risk of having a child with a genetic disorder.

Market Dynamics

Driver

Progressing Prenatal Screening Programs and Early Disease Detection

The global carrier screening market is experiencing major development in the present era, due to a rise in prenatal screening programs. In these programs, carrier screening is coupled with routine prenatal care for the prior detection of genetic abnormalities. Nowadays, widespread adoption of carrier screening allows informed decision-making about their reproductive health and managing potential health risks. Recent developments in the respective market encompass expanded carrier screening (ECS), which is employed in different genetic conditions at a lower cost.

Restraint

Challenges in Data Interpretation

In 2025, along with advancements in different areas, certain challenges are widely impacting the overall market development, such as a lack of well-trained and skilled professionals. This ultimately results in improper counselling, which potentially leads to misinterpretation of complex genomic data and undue anxiety for patients.

Opportunity

Widespread Developments in Preconception and PGD

During 2025-2034, consistent developments will expand the carrier screening market by exploring these screening approaches in in vitro fertilization (IVF) with preimplantation genetic testing (PGT) or using donor gametes. Along with this, carrier screening is further experiencing a groundbreaking approach, like ESC, which is further coupled with preimplantation genetic diagnosis (PGD). This effort is incorporated into the detection of embryos that are unaffected by genetic diseases before implantation, and supports family planning.

Segmental Insights

Which Test Type Held the Largest Share of the Carrier Screening Market in 2024?

The expanded carrier screening panels segment was dominant in the market with a major revenue share in 2024. This kind of test gives several benefits, such as empowerment of autonomous reproductive choices, encouraging equitable access to genetic testing by being pan-ethnic, and potentially growing inexpensiveness by detecting more conditions in a single test. Nowadays, numerous companies are providing different ECS panels, each possessing a diverse list of genes and conditions, with some panels covering over 100 or even up to 1000 genes.

Whereas, the customized carrier screening panels segment is anticipated to expand at the fastest CAGR during 2025-2034. This is a major kind of test, which encompasses widespread adoption of genetic testing for family planning and prevention. Furthermore, this approach can be utilized by couples in making informed decisions regarding family planning, coupled with the application of IVF with PGD to avoid affected pregnancies, pursuing adoption, or using donor sperm or eggs. In conjunction with next-generation sequencing (NGS), this segment is fueled by identifying carriers of autosomal recessive and X-linked genetic disorders.

How did the Next-Generation Sequencing (NGS) Segment Lead the Market in 2024?

By technology, the next-generation sequencing (NGS) segment captured the biggest revenue share of the carrier screening market in 2024. A wider detection of genetic variants linked to various hereditary diseases is mainly impacting the segment's progress. Alongside, NGS offers a wide range of views of the genome by allowing the discovery of new genetic variations, gene fusions, and other genomic features. Ultimately, this helps in the future for the development of personalized medicine, reproductive health, pathogen identification, and population genetics.

However, the DNA microarrays segment is predicted to expand rapidly in the predicted timeframe. Highly influential growth factors in the segment development are its specific benefits, like speed, which results in faster outcomes than some other techniques. As well as its sensitivity and specificity for precise measurements, the ability to miniaturize complex experiments onto small chips is also driving the comprehensive transformation of the market. Currently, researchers are working on the study of integration of higher-density arrays with other omics (like proteomics and metabolomics), which further assist in infectious diseases and gene expression profiling.

Why did the Cystic Fibrosis (CF) Segment Dominate the Market in 2024?

In the carrier screening market, the cystic fibrosis (CF) segment registered dominance in 2024. Mainly, the segment is driven by its allowance for informed reproductive choices, supporting couples to consider options, such as prenatal diagnosis or preimplantation genetic testing to minimize cases of CF births, and further offering information that can be employed in cascade screening to find other at-risk family members. Additionally, a negative carrier screening facilitates reassurance to individuals and couples who were conce ed about having a child with CF.

Although the spinal muscular atrophy (SMA) segment will witness rapid growth during 2025-2034, the segment’s expansion will be impacted due to a rise in cases of SMA as a fatal, genetic disease, as well as the accelerating availability of accurate and affordable tests. Moreover, advanced screening tests enable individuals to access genetic counselors who can convey the implications of the results, the inheritance patte of SMA, and reproductive risks. Across the globe, numerous organizations, including the American College of Medical Genetics, have suggested population-wide screening for SMA carrier status due to the rising prevalence.

What Made the Reference Laboratories Segment Dominant in the Market in 2024?

Primarily, the reference laboratories segment accounted for the dominating share of the carrier screening market in 2024. A huge population of the globe is trying to detect a variety of genetic disorders, which are widely utilizing advanced techniques, like Next-Generation Sequencing (NGS) and Multiplex PCR, enabling rapid, more accurate, and more comprehensive genetic analysis, with enhanced accessibility and affordability. The segment is further propelled by its proactive options, especially preimplantation genetic diagnosis (PGD), utilizing donor gametes, or prenatal testing, instead of only reactive responses during pregnancy.

Besides this, the specialty clinics segment is estimated to register the fastest growth in the upcoming era. The possession of specialized genetic counselors and experts provides thorough explanations of complex genetic results and helps navigate choices in these specialty clinics. In addition, they also offer easy access to advanced technologies, like state-of-the-art expanded carrier screening (ECS) panels, which are increasingly used in a broader range of conditions over the conventional methods. Now that many couples are choosing IVF, in which specialty clinics can unite carrier screening results into the PGD process, boosting the chance of a healthy pregnancy.

Which Patient Group Led the Global Carrier Screening Market in 2024?

In 2024, the prenatal & preconception couples segment captured the biggest revenue share of the market. In the case of prenatal group, highly sophisticated tests are allowing couples to anticipate prenatal diagnostic tests and strategies for the management of an affected fetus. Whereas, preconception screenings provide the wider options, particularly assisted reproductive technologies, such as preimplantation genetic diagnosis (PGT) or selecting sperm or egg donors. Alongside, the application of universal expanded carrier screening minimizes dependence on ancestry-based testing, coupled with equitable access to critical information for all couples.

And, the general population segment is predicted to grow rapidly in the studied years. Greater contribution of public and healthcare professionals in the escalating genetic disorders, and supportive initiatives by gove ments and non-gove mental organizations are highly fueling the overall segment and market expansion. As well as developing screening tests to assist the entire population in normalizing carrier status, it is also supporting the general population's adoption. Besides this, the usage of screening for multiple conditions in a single panel (ECS) can be more affordable than testing for single, high-risk disorders.

Regional Insights

What Made North America Dominate the Market in 2024?

In the carrier screening market, North America held a major revenue share in 2024. North America’s well-established healthcare policies and healthcare infrastructure are widely adopting sophisticated diagnostic tests. Apart from this, many American organizations are incorporating these screening approaches by integrating them more broadly into clinical practice. These organizations are greatly focusing on the early detection of carriers of recessive genetic conditions like Cystic Fibrosis, Spinal Muscular Atrophy (SMA), and Hemoglobinopathies (such as Sickle Cell Disease), and ethnicity-specific screening for hemoglobinopathies and Ashkenazi Jewish disorders.

U.S. Carrier Screening Market Trends

The US market is impacted by a pan-ethnic approach that is more equitable, also facilitating similar advantages to all populations, unlike prior methods that were restricted by ethnicity.

For this market,

  • In August 2025, Dr. Sean Cahill, a leading physician in the Chicago area, entered into a new partnership with OpenDNA, a pioneer in comprehensive AI-powered genetic testing, to make OpenDNA's full suite of advanced genetic tests available to Dr. Cahill's patients, which offers unprecedented insights into their health, wellness, and disease risk.

Canada Carrier Screening Market Trends

Canada’s huge efforts in innovations in self-sampling kits, like those employed in a Quebec-based program, are being created to assist with home-based collection and mail-in analysis, enhancing convenience.

For instance,

  • In April 2025, Génome Québec and Cystic Fibrosis Canada made a $1.2 million investment in two new research projects focused on rare genetic mutations that are associated with cystic fibrosis and have no available treatment options.

Escalating Genetic Disorders are Driving the Asia Pacific

During 2025-2034, the Asia Pacific is anticipated to grow at a rapid CAGR in the carrier screening market. Across the ASAP countries, like China and India, there is a rise in instances of certain genetic issues, particularly sickle cell anemia and thalassemia, which fuels the demand for carrier screening. Along with this, these countries' healthcare systems are widely aiming at the progression of personalized medicine and consumer demand for proactive health management.

For this market,

  • In May 2025, PacBio, a global provider of high-quality, highly accurate sequencing platforms, and Chulalongko University, a national leader in genomic and translational research, made  a strategic collaboration to execute PacBio HiFi whole genome sequencing (WGS) as part of a newbo screening research program.

Value Chain Analysis

R&D

The carrier screening market usually consists of the designing of novel genetic tests by first reviewing and refining evolved scientific knowledge, establishing new methods for sample collection and analysis, validating test precision and reliability, and ultimately developing accessible reporting systems with genetic counseling to interpret results for patients.

Key Players: Natera, Myriad Genetics, LabCorp, Invitae, and Fulgent Genetics

Clinical Trials and Regulatory Approvals

It involves confirmation of accuracy and safety, as well as other laboratory processes like analytical validation, regulatory submission to bodies such as the FDA, and consistent quality control, with post-market surveillance to monitor performance.

Key Players: American College of Medical Genetics and Genomics (ACMG), US FDA, Merck, Ferring Pharmaceuticals, etc.

Patient Support and Services

The carrier screening market gives genetic counseling to assess results and guide decision-making, pre-test education on inheritance patte s and possible risks, and post-test support for handling psychological aspects and informing family members.

Key Players:  MedGenome, Medicover Genetics, BGI Genomics, Medicover Genetics, etc.

Top Companies in the Carrier Screening Market

Carrier Screening Market Companies

  • Illumina Inc.
  • Thermo Fisher Scientific Inc.
  • Natera Inc.
  • Myriad Genetics Inc.
  • Invitae Corporation
  • Fulgent Genetics
  • Eurofins Scientific
  • Centogene N.V.
  • OPKO Health (GeneDx)
  • Laboratory Corporation of America Holdings (Labcorp)
  • Quest Diagnostics Incorporated
  • 23andMe, Inc.
  • BGI Genomics Co., Ltd.
  • Color Health, Inc.
  • Sema4
  • Ambry Genetics
  • Baylor Genetics
  • MedGenome Inc.
  • Dante Labs
  • PerkinElmer Inc

Latest Announcements by Industry Leaders

  • In August 2025, Rady Children’s Institute for Genomic Medicine (RCIGM®) announced an innovative inte ational partnership with Sidra Medicine, a leading specialty healthcare organization, to implement a major milestone as Sidra Medicine becomes the first inte ational site of the BeginNGS genome-based newbo screening program. Dr. Akil replied that BeginNGS develops upon their successful NOOR-QATAR efforts by integrating state-of-the-art genomics tools.
  • In May 2025, Frame, the collaborative care platform transforming access to reproductive and fertility care, announced a strategic alliance with Labcorp, a leading player in innovative and comprehensive laboratory services, to allow patients to seamlessly access Labcorp's comprehensive suite of fertility testing services, mainly hormone and genetic testing. Dr. Pouneh Alizadeh, OB/GYN and Medical Director at Frame, commented that this will offer patients the required accessibility and convenience of testing for an excellent understanding of their health and fertility. 

What are the Key Developments in the Carrier Screening Market?

  • In August 2025, Abu Dhabi launched newbo genetic screening to detect over 800 childhood conditions.
  • In May 2025, BillionToOne, Inc., a molecular diagnostics company, launched an expanded offering for providers utilizing the UNITY Fetal Risk™ Screen.
  • In July 2025, Gujarat unveiled India’s first tribal genome project to tackle inherited diseases.
  • In March 2025, Bio-Techne Corporation’s Asuragen, a Bio-Techne brand, collaborated with Oxford Nanopore Technologies to introduce the AmplideX Nanopore Carrier Plus Kit, a new genetic panel and supporting analysis software for carrier screening research.

Segments Covered in the Report

By Test Type

  • Targeted / Single-Panel Tests
  • Expanded Carrier Screening Panels
  • Customized Carrier Screening Panels
  • Others

By Technology

  • Next-Generation Sequencing (NGS)
  • Polymerase Chain Reaction (PCR)
  • DNA Microarrays
  • Sanger Sequencing
  • Others

By Indication

  • Cystic Fibrosis (CF)
  • Spinal Muscular Atrophy (SMA)
  • Thalassemia
  • Sickle Cell Disease
  • Fragile X Syndrome
  • Tay-Sachs Disease
  • Others

By End Use

  • Hospitals
  • Reference Laboratories
  • Specialty Clinics
  • Ambulatory Care Centers
  • Others

By Patient Group

  • Prenatal & Preconception Couples
  • High-Risk Ethnic Groups
  • General Population
  • Others

By Region 

  • North America
    • U.S.
    • Canada
  • Asia Pacific
    • China
    • Japan
    • India
    • South Korea
    • Thailand
  • Europe
    • Germany
    • UK
    • France
    • Italy
    • Spain
    • Sweden
    • Denmark
    • Norway
  • Latin America
    • Brazil
    • Mexico
    • Argentina
  • Middle East and Africa (MEA)
    • South Africa
    • UAE
    • Saudi Arabia
    • Kuwait
  • Last Updated: 28 August 2025
  • Report Covered: [Revenue + Volume]
  • Historical Year: 2021-2023
  • Base Year: 2024
  • Estimated Years: 2025-2034

Meet the Team

Kesiya Chacko is an accomplished market research professional with over 4+ years of experience in the healthcare industry, known for delivering actionable insights and strategic analysis that empower healthcare organizations.

Learn more about Kesiya Chacko

Aditi Shivarkar, with over 14 years of experience in consumer goods, leads research at Towards Consumer Goods, ensuring precise, actionable insights on trends, consumer preferences, and sustainable packaging for businesses.

Learn more about Aditi Shivarkar

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FAQ's

The carrier screening market is valued at USD 3.09 billion in 2025 and is on track to reach USD 15.5 billion by 2034, witnessing a steady CAGR of 19.65% during the forecast span.

North America is currently leading the carrier screening market share 42% due to its robust healthcare policies and infrastructure.

The carrier screening market includes six segments such as by test type, by technology, by indication, by end use, by patient group, and by region.

Some key players include Illumina Inc., Thermo Fisher Scientific Inc., Natera Inc., Myriad Genetics Inc., and Invitae Corporation.

Carrier screening can be done in preconception, during pregnancy, and before IVF.

Screening tests are important in IVF as they offer fertility assessment, monitoring egg maturation, and improving success rates.

NHGRI, NIH, US FDA, CGE, ClinicalTrials.gov, WA.GOV, CDC, PIB, NCI, NSW, etc.