Carrier Screening Market Outlook

The size of the global carrier screening market was estimated in 2023 at USD 1,343.40 million, and it is anticipated to exhibit a CAGR of 12.4% from 2023 to 2033. By 2033, the market is expected to be worth USD 4,323.84 million.

The market is anticipated to grow as a result of increased funding from the public and private sectors in response to the rising demand for genetic tests. The use of affordable technologies for carrier screening is regarded as a crucial factor.

The global carrier screening market is becoming more impacted by the advent of novel tests for improved diagnosis and treatment. The frequency of genetic abnormalities and chronic diseases is rising, which is helping the industry expand.

Attributes Details
Carrier Screening Market CAGR (2023 to 2033) 12.4%
Carrier Screening Market Size (2023) USD 1,343.40 million
Carrier Screening Market Size (2033) USD 4,323.84 million

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Growing Consumer Demand for Early Disease Detection and Technological Advancements May Foster Market Growth

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.

Frequent Occurrence of Chromosomal Abnormalities

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.

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Historical Outlook of the Carrier Screening Market

The carrier screening market on a global scale was estimated in 2017 to be worth USD 0.91 billion and is anticipated to expand at a CAGR of 11.7% from 2017 to 2021. In 2021, the market was estimated to be worth another USD 1.41 billion. The market's estimated value in 2019 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 2021.

Less Awareness of New Technology

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.

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Segmentation Outlook

Which Type Segment is Gaining Immense Popularity?

Attributes Details
Expanded Carrier Screening - CAGR 12.9%

With a 12.9% CAGR between 2023 and 2033, 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.

  • In January 2022, Mitera announced the release of two genetic test products in the United States, one of which is an enhanced carrier screening test that can be done at home and helps people evaluate their risk of any of 421 genetic illnesses. This improves consumer convenience and product accessibility.
  • Similarly, in January 2021 GeneDx, Inc. announced the release of additional genetic tests on the market, including repeat expansion analysis for Friedreich ataxia, spinocerebellar ataxia (SCA), and other prevalent types of genetic ataxias.

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.

For Which Medical Condition is Carrier Screening Widely Used?

The demand for carrier screening is likely to increase as people become more aware of genetic illnesses.

  • Ambry Genetics launched a reproductive health initiative in October 2022, powered by its digital platform, which enhances the experience of customers by making genetic testing, reporting, and counseling more easily accessible.

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.

  • According to research published in the Egyptian Journal of Medical Human Genetics in February 2022, SMA carriers are frequently identified because it is one of the leading hereditary causes of infant mortality. According to the researchers, qPCR carrier screening for SMA is a quick and affordable test.

This results in the escalation of carrier screening market trends.

Which Technology is Boosting Sales of Carrier Screening?

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.

  • Whole exome sequencing was implemented in 2019 for carrier screening testing at the International Peace Maternity and Children's Hospital in China. By September 2022, there were 700 samples at the hospital, up from 600 in 2020, 1,000 in 2021, and 700 in 2020.

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.

Which End User is Likely to Contribute to Market Growth?

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.

  • For instance, Redcliffe Labs stated in November 2022 that it may be spending USD 10 million to increase its capacity for specialized and genetic testing. With the investment, reference laboratories are poised to have better NGS capabilities, faster turnaround times, and more affordable genomics.

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.

  • For instance, Kindbody, a fertility and family clinic, in June 2022 stated that it had acquired Phosphorus Labs and is poised to internalize genetic testing and screening in order to provide complete solutions. Before the acquisition, the clinic contracted out its preimplantation genetic testing for aneuploidy and increased carrier screening.

The rising use of carrier screening services in-house by end users is predicted to significantly affect the market's estimated value.

Regional Outlook

Why is North America to Offer a Sizable Opportunity for Carrier Screening Manufacturers?

Attributes Details
Market Share 40.19%

With a share of 40.19% between 2033 and 2033, 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.

What is Boosting the Adoption of Carrie Screening in the Asia Pacific?

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.

  • For instance, the Thalassemia Society announced in December 2022 that it may screen 20,000 to 30,000 pregnant women in Pune, India's rural areas for thalassemia carriers. In India, about 10,000 newborns are diagnosed with thalassemia each year.

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.

How Competition Influences the Carrier Screening Market?

To expand the carrier screening market globally, businesses and service providers are using tactics including technological development and discovery, vertical collaboration, building a strong product portfolio through startups, mergers and acquisitions, and regional expansion.

Recent Development:

Funding

Date March 2022
Company Billion to One
Details With significant support from Baillie Gifford, Neotribe Ventures, Norwest Venture Partners, Civilization Ventures, Fifty Years VC, Pacific 8 Ventures, Time BioVentures, and Libertus Capital, among others, Billion to One raised USD 125 million in Series C funding in March 2022. This round of funding was co-led by Adams Street Partners and existing investor Hummingbird Ventures.

Launch

Date January 2022
Company Mitera
Details Peaches& Me and 23 Pears, Mitera's at-home reproductive genetic testing tools, are available in all 50 states from January 2022, the company revealed. It conducts screenings for ailments like down syndrome.
Date June 2019
Company QIAGEN
Details QIAGEN announced to launch QIAseq, an enhanced carrier screening panel, in June 2019. By providing information on the targets and genes, it is used to identify more than 200 disorders.
Date 2017
Company OPKO Health
Details In 2017, the OPKO Health subsidiary GenPath Women's Health introduced the CalriTest, a non-invasive prenatal screening method. This tool is poised to make it easier to spot faulty chromosomes.
Date 2018
Company Invitae Corporation
Details Invitae Corporation introduced its comprehensive genetic screening tool in 2018.

Partnership

Date April 2021
Company Illumina
Details Based on the data from Illumina's comprehensive genomic profile test, TruSight Oncology, Kartos Therapeutics, Inc., and Illumina established a partnership in April 2021 to jointly develop a TP53 companion diagnostic (CDx). It is poised to increase the range of TruSight Oncology's services, to include hematopoietic cancers of illumination.
Date January 2019
Company Fulgent
Details To provide Columbia patients with on-site performed, expanded carrier screening, Fulgent and Precision Genomics Laboratory (PGL) partnered in January 2019. To produce an enhanced carrier screening test with many advantages over other currently available tests, this alliance is poised to make use of both sides' expertise in laboratory management, bioinformatics, clinical genetics, and next-generation sequencing.

Key Players 

  • 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.
Table of Content
  • Executive Summary | Carrier Screening Market
  • Market Overview
  • Market Background
  • Global Market Analysis 2018 to 2022 and Forecast, 2023 to 2033
  • Global Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Test Type
    • Molecular Screening Test
    • Biochemical Screening Test
  • Global Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Disease Type
    • Cystic Fibrosis
    • Tay-Sachs
    • Gaucher Disease
    • Sickle Cell Disease
    • Spinal Muscular Atrophy
    • Others
  • Global Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By End-User
    • Hospitals
    • Reference Laboratories
    • Physician Offices & Clinics
  • Global Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Region
    • North America
    • Latin America
    • Europe
    • South Asia
    • East Asia
    • Oceania
    • MEA
  • North America Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Country
  • Latin America Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Country
  • Europe Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Country
  • South Asia Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Country
  • East Asia Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Country
  • Oceania Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Country
  • MEA Market Analysis 2018 to 2022 and Forecast 2023 to 2033, By Country
  • Key Countries Market Analysis
  • Market Structure Analysis
  • Competition Analysis
    • Abbott Laboratories
    • F. Hoffmann-La Roche AG
    • Danaher Corporation
    • Illumina Inc.
    • Thermo Fisher Scientific Inc.
    • Autogenomics Inc.
    • Eurofins Scientific
    • Fulgent Genetics Inc.
    • Opko Health
    • Quest Diagnostics Incorporated
    • Invitae Corporation
    • Luminex Corporation
  • Assumptions & Acronyms Used
  • Research Methodology

Key Segments  

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
  • Europe
  • Asia Pacific
  • Latin America
  • The Middle East & Africa

Frequently Asked Questions

What is Current Market Valuation?

The market is estimated to secure a valuation of USD 1,343.40 million in 2023.

What is the Projected Size of the Market by 2033?

The global market size to reach USD 4,323.84 million by 2033.

What is the Growth Potential of the Carrier Screening Market?

The growth potential of the carrier screening market is 12.4% CAGR through 2033.

Which is the Top Trend in the Carrier Screening Market?

Increasing investments in new technologies may drive the market forward.

What Opportunities Wait for the Market Players?

High incidence of chromosomal abnormalities is expected to create opportunity for market players.

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