The Global carrier screening market size was valued at $1.9 billion in 2022 and is projected to reach $6.5 billion by 2030, growing at a CAGR of 13.8% over the forecast period.

The global carrier screening market is a segment of the broader genetic testing market and involves the identification of individuals who are carriers of genetic mutations that can cause inherited diseases. Carrier screening tests are designed to identify whether an individual carries a genetic mutation that can be passed on to their offspring and can help individuals make informed decisions about family planning.

The carrier screening market is driven by factors such as increasing awareness and acceptance of genetic testing, the growing incidence of genetic diseases, and advancements in technology that have made carrier screening tests more accessible and affordable.

The market is segmented by technology, product and services, and geography. By technology, the market is segmented into DNA sequencing, polymerase chain reaction (PCR), microarrays, and others. By product and services, the market is segmented into kits and reagents, software and services, and others. By geography, the market is segmented into North America, Europe, Asia-Pacific, Latin America, and Middle East and Africa.

Some of the key players operating in the global carrier screening market include Illumina Inc., Agilent Technologies Inc., BGI Genomics Co. Ltd., F. Hoffmann-La Roche AG, Quest Diagnostics, LabCorp, Natera Inc., Invitae Corporation, Myriad Genetics, and Centogene AG.

The carrier screening market is expected to continue to grow in the coming years, driven by increasing demand for genetic testing and advancements in technology that are making carrier screening tests more accurate and affordable. However, the market is also likely to face challenges related to regulatory issues and ethical concerns related to genetic testing.

Market Dynamics

Driving Factors

There are several driving factors that have contributed to the growth of the global carbon nanotubes market. Some of these factors include:

Increasing demand from the aerospace industry: Carbon nanotubes are used in the aerospace industry to make lightweight, strong, and conductive materials for aircraft and spacecraft. With the growing demand for air travel and the need for more efficient and sustainable aircraft, the demand for carbon nanotubes in this industry is expected to increase.

Government initiatives and funding: Several governments around the world are investing in research and development of carbon nanotubes and providing funding for companies that are involved in the production and development of carbon nanotubes. This has helped to drive innovation and development in the industry.

Advancements in manufacturing technology: The development of new manufacturing technologies has helped to reduce the cost of producing carbon nanotubes and increase their production efficiency. This has made carbon nanotubes more accessible to a wider range of industries and applications.

Restraining Factors

Some of the restraining factors for the growth of the global carrier screening market include:

Lack of reimbursement policies: The lack of reimbursement policies for carrier screening tests may limit the demand for these tests, particularly among individuals who cannot afford to pay for them out-of-pocket.

Complexity of test results: Carrier screening tests can produce complex and difficult-to-interpret results, which may be a barrier to their adoption by healthcare providers and patients.

Competition from alternative screening methods: Alternative screening methods such as prenatal testing and pre-implantation genetic testing may compete with carrier screening tests, particularly for individuals who are already pregnant or undergoing in-vitro fertilization.

Challenges Factors

The global carrier screening market faces several challenges, including:

Limited awareness and access: Carrier screening tests are not widely available in many parts of the world, particularly in developing countries, due to factors such as lack of resources, infrastructure, and education.

Reimbursement policies: The lack of reimbursement policies for carrier screening tests can limit their adoption, particularly among individuals who cannot afford to pay for them out-of-pocket.

Regulatory issues: The regulation of genetic testing varies widely between countries and regions, and regulatory changes can have a significant impact on the carrier screening market.

Competition from alternative screening methods: Alternative screening methods, such as prenatal testing and pre-implantation genetic testing, may compete with carrier screening tests, particularly for individuals who are already pregnant or undergoing in-vitro fertilization.

Uncertainty about clinical utility: There is ongoing debate about the clinical utility of carrier screening tests and the optimal approach to using them in clinical practice.

Opportunity Factors

The global carrier screening market presents several opportunities for growth and development, including:

Expansion into developing countries: As access to healthcare improves in developing countries, there is an opportunity for carrier screening companies to expand into these markets and increase awareness and availability of carrier screening tests.

Collaboration with healthcare providers: Carrier screening companies can collaborate with healthcare providers to develop and implement guidelines for carrier screening, helping to standardize the use of carrier screening tests in clinical practice.

Personalized medicine: Carrier screening tests can play a key role in personalized medicine, enabling healthcare providers to identify individuals at risk of passing on genetic disorders and provide personalized treatment and family planning options.

Increasing focus on preventative healthcare: As healthcare systems shift towards a focus on preventative care, carrier screening tests can play an important role in identifying individuals at risk of developing genetic disorders and providing early interventions.

Segmentation Analysis

Technology Outlook

PCR-based carrier screening tests are commonly used to detect mutations in specific genes associated with genetic disorders. This technology has the advantage of being highly sensitive and specific, but it can only detect mutations in the targeted genes.

Microarray-based carrier screening tests can detect multiple mutations across several genes simultaneously, making them more efficient than PCR-based tests. However, this technology is limited by its ability to detect only known mutations and may miss novel mutations.

NGS-based carrier screening tests have the advantage of being able to detect both known and novel mutations across multiple genes simultaneously, making them highly efficient and comprehensive. However, the complexity of NGS technology can result in increased cost and longer turnaround times.

Regional Analysis

North America is the largest market for carrier screening, driven by factors such as high awareness of genetic testing, advanced healthcare infrastructure, and strong reimbursement policies. The United States is the largest market in the region, accounting for the majority of the market share.

Europe is another major market for carrier screening, driven by factors such as advanced healthcare infrastructure, increasing awareness of genetic testing, and government initiatives to promote genetic testing. Countries such as Germany, the UK, and France are among the largest markets in the region.

The Asia-Pacific region is expected to experience strong growth in the carrier screening market, driven by factors such as increasing healthcare spending, improving healthcare infrastructure, and growing awareness of genetic testing. Countries such as China, Japan, and India are expected to be the major markets in the region.

Scope Of Report:

The Global Carrier Screening Market has been segmented into:

By Type

• Expanded Carrier Screening
• Targeted Disease Carrier Screening

By Medical Condition

• Cystic Fibrosis
• Tay-Sachs
• Gaucher Disease
• Sickle Cell Disease
• Spinal Muscular Atrophy
• Other

By Technology

• DNA Sequencing
• Polymerase Chain Reaction
• Microarrays
• Other

By End-user

• Hospitals
• Laboratories
• Physician Offices & Clinics
• Other

By Region

• North America
• US
• Canada
• Mexico
• Rest of North America
• Europe
  • Germany
  • France
  • Italy
  • Spain
  • UK
  • Nordic Countries
    • Denmark
    • Finland
    • Iceland
    • Sweden
    • Norway
  • Benelux Union
    • Belgium
    • The Netherlands
    • Luxembourg
  • Rest of Europe
• Asia-Pacific
  • Japan
  • China
  • India
  • Australia
  • South Korea
  • Southeast Asia
    • Indonesia
    • Thailand
    • Malaysia
    • Singapore
    • Rest of Southeast Asia
• Rest of Asia-Pacific
• The Middle East & Africa
• Saudi Arabia
• UAE
• Egypt
• South Africa
• Rest of the Middle East & Africa
• Latin America
• Brazil
• Argentina
• Rest of Latin America

Market Players 

The global carrier screening market is highly competitive and fragmented, with numerous players vying for market share. Some of the key companies in the market are:

• Myriad Genetics, Inc
• Cepheid
• Illumina
• Thermo Fisher Scientific Inc.
• F.Hoffmann-La Roche Ltd
• Laboratory Corporation of America Holdings
• Otogenetics 
• MedGenome 
• GeneTech 
• Centogene N.V. 

Illumina is a leading player in the carrier screening market, offering a range of products for carrier screening, including its VeriSeq carrier screening system. Thermo Fisher Scientific offers a range of carrier screening products, including its AmpliSeq carrier screening panel and Ion AmpliSeq technology. Qiagen offers a range of carrier screening products, including its QIAstat-Dx respiratory panel and QIAseq panel for hereditary diseases.

Agilent Technologies offers a range of carrier screening products, including its SureScan microarray technology and HaloPlex target enrichment system. PerkinElmer offers a range of carrier screening products, including its GSP Genetic Analyzer and SNP genotyping technologies.

Strategic Developments

In January 2021, Thermo Fisher Scientific completed its acquisition of Mesa Biotech, a company focused on developing rapid molecular diagnostic tests for infectious diseases, including COVID-19.

In September 2020, Illumina acquired Grail, a company focused on developing blood tests for early cancer detection, in a deal worth $8 billion.

In February 2020, Qiagen announced that it had agreed to be acquired by Thermo Fisher Scientific for $11.5 billion.

In November 2019, Invitae acquired YouScript, a clinical decision support company focused on personalized medication management.

In September 2019, Natera announced that it had entered into a partnership with QIAGEN to develop cell-free DNA-based diagnostic tests for cancer.

In June 2019, Fulgent Genetics acquired GeneDx, a leading provider of genetic testing services, for $75 million.

In March 2019, Centogene raised $43.5 million in an initial public offering (IPO) on the Nasdaq stock exchange.

In February 2019, Agilent Technologies acquired Genohm, a software company focused on laboratory management solutions.

In January 2019, PerkinElmer acquired Tulip Diagnostics Private Limited, a leading provider of in-vitro diagnostic reagents and kits, to expand its diagnostics portfolio.

In December 2018, Natera announced that it had secured $200 million in funding from a consortium of investors to support the development of its genetic testing business.