Carrier Screening Market - Growth, Trends, COVID-19 Impact, and Forecasts (2022 - 2027)

The Carrier Screening Market is segmented by Test Type (Molecular Screening Test and Biochemical Screening Test), Disease Type(Cystic Fibrosis, Tay-Sachs, Gaucher Disease, Sickle Cell Disease, Spinal Muscular Atrophy, Other Autosomal Recessive Genetic Disorder), and Geography (North America, Europe, Asia-pacific, Middle-East and Africa, and South America). The report offers the value (in USD Million) for the above segments.

Market Snapshot

Carrier Screening Market Size
Study Period: 2018 - 2026
Base Year: 2021
Fastest Growing Market: Asia Pacific
Largest Market: North America
CAGR: 9.8 %

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Market Overview

COVID-19 had a significant impact on the growth of the market. The global carrier screening market faced limitations in the growth due to the sudden imposition of the lockdown restriction across the globe which resulted in a reduction in the patient influx to genetic counselors. However, the relaxation of the restrictions during the post-pandemic period contributed to the growth of the market.

The major factors for the growth of the carrier screening market include the increasing emphasis on early disease detection and prevention, and the rising application of screening tests in genetic disorders, which is expected to experience during the forecast period. For instance, the Centers for Disease Control and Prevention (CDC) 2020 reported that Sickle cell disease affects millions of people throughout the world and is particularly common among those ancestors who came from sub-Saharan Africa, Spanish-speaking regions, such as South America, the Caribbean, and Central America, and also Saudi Arabis, India, and Mediterranean Countries.

The earlier a disease is diagnosed, the more likely it can be cured or successfully managed. Treating the disease early could also make the disease easier to live with. Early disease detection helps people plan ahead, while they are still able to make important decisions regarding their health and support needs and on financial and legal matters. Genetic diseases, such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease, are inherited disorders. Carrier testing for such diseases can provide information about a couple’s risk of having a child with a genetic condition. Identification of the risk, prior to the onset of symptoms, is called predictive/presymptomatic testing. Many genetic disorders can be detected early during pregnancy. So, the consumer demand for safe and effective carrier tests is fueling the growth of this market. In addition, the adoption of carrier tests into regular clinical care offers a commercial advantage to the market. According to many studies, early detection of diseases can prevent them completely or at least decrease the complications of the diseases. Healthcare organizations in several countries are funding newborn screening to predict diseases, like cancers, which may occur later in adulthood.

Scope of the Report

As per the scope of the report, carrier screening is a type of genetic test to identify the autosomal recessive genetic disorders, before or during a pregnancy stage. Further, it helps in identifying a child with a genetic disorder.The Carrier Screening Market is segmented by Test Type (Molecular Screening Test and Biochemical Screening Test), Disease Type(Cystic Fibrosis, Tay-Sachs, Gaucher Disease, Sickle Cell Disease, Spinal Muscular Atrophy, Other Autosomal Recessive Genetic Disorder), and Geography (North America, Europe, Asia-pacific, middle east, Africa, and South America). The Market report also covers the estimated market sizes and trends of 17 countries across major regions globally. The report offers values (in USD million) for the above segments

By Test Type
Molecular Screening Test
Biochemical Screening Test
By Disease Type
Cystic Fibrosis
Gaucher Disease
Sickle Cell Disease
Spinal Muscular Atrophy
Other Autosomal Recessive Genetic Disorders
North America
United States
United Kingdom
Rest of Europe
South Korea
Rest of Asia-Pacific
Middle-East & Africa
South Africa
Rest of Middle-East and Africa
South America
Rest of South America

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Key Market Trends

Molecular Screening Test Segment by Test Type is Expected to Register Fastest Growth Rate during the Forecast Period

A molecular screening test identifies DNA mutations, which are variations in the genetic code that lead to decreased production of enzymes. It focuses on the mutations seen in one ethnic group. It involves a step-wise process of testing for common alleles, and if required, extensive gene analysis. Sequencing is a method of molecular screening, which is accomplished by reading across the DNA code of a specific gene to know if there are any known mutations. If the test results are negative, it reduces the chances that the individual is a carrier, however, it does not eliminate the chance of having a carrier gene, since it is possible that the mutation might not have been discovered yet through the current technology.

Some of the prominent recessive disorders for which molecular testing is beneficial are Canavan disease, Cystic fibrosis, GM1 gangliosidosis, spinal muscular atrophy, etc. With advancements in genetic analysis tools, like assays based on next-generation sequencing and microarray technologies, molecular diagnostics are revolutionizing the practice of medicine, by improving the prenatal and reproductive care, enabling earlier disease detection, and advancing the treatment for heritable diseases. There is an expansion of molecular testing, as it has the potential to increase testing accuracies through technical benefits for many targeted disorders that may not be suggested to biochemical testing.


North America accounted for the Largest Share in the Global Market

North America is found to hold a major share of the carrier screening market and is expected to show a similar trend over the forecast period, without significant fluctuations. According to the Centers for Disease Control and Prevention in 2020, Among the children with Sickle cell diseases, 1% died as a result of Sickle cell-related causes during the first 3 years of life 

Many advances in genomic medicine and technological platforms have made possible low-cost, pan‐ethnic, expanded carrier screening that enables obstetric care providers to offer screening for over 100 recessive genetic diseases.

However, the rapid integration of this genomic medicine into the routine obstetric practice has raised some concerns about the practical implementation of carrier testing.

According to the Centers for Disease control and Prevention in 2020, Sickle cell disease approximatley affects 100,000 Americans. Thus, as the prevalence of genetic diseases is increasing every year, the usage of carrier screening is also expected to increase during the forecast period.


Competitive Landscape

The Carrier Screening Market is fragmented and competitive and consists of several major players. In terms of market share, a few of the major players are currently dominating the market.The presence of major market players, such as Abbott, F. Hoffmann-La Roche AG, Cepheid (Danaher Corporation), Illumina Inc., and Thermo Fisher Scientific Inc, in turn, is increasing the overall competitive rivalry of the market.

Recent Development

In January 2022 Mitera announced the launch of its at-home reproductive genetic testing products Peaches& Me and 23 Pears in all 50 states. It screens for conditions such as down syndrome.

In June 2021 Grail launched the Galleri blood est, a groundbreaking multi-cancer screening diagnostic. The test was meant to screen people who many already have an elevated risk for cancer, such as adults over the age of 50

Table of Contents


    1. 1.1 Study Assumptions and Market Definition

    2. 1.2 Scope of the Study




    1. 4.1 Market Overview

    2. 4.2 Market Drivers

      1. 4.2.1 Increasing Emphasis on Early Disease Detection and Prevention

      2. 4.2.2 Rising Demand for Personalized Medicine

      3. 4.2.3 Increasing Application of Screening Tests in Genetic Disorders

    3. 4.3 Market Restraints

      1. 4.3.1 Social and Ethical Implications of Carrier Screening

      2. 4.3.2 High Costs and Reimbursement Issues of Carrier Testing

    4. 4.4 Porter's Five Forces Analysis

      1. 4.4.1 Threat of New Entrants

      2. 4.4.2 Bargaining Power of Buyers/Consumers

      3. 4.4.3 Bargaining Power of Suppliers

      4. 4.4.4 Threat of Substitute Products and Services

      5. 4.4.5 Intensity of Competitive Rivalry


    1. 5.1 By Test Type

      1. 5.1.1 Molecular Screening Test

      2. 5.1.2 Biochemical Screening Test

    2. 5.2 By Disease Type

      1. 5.2.1 Cystic Fibrosis

      2. 5.2.2 Tay-Sachs

      3. 5.2.3 Gaucher Disease

      4. 5.2.4 Sickle Cell Disease

      5. 5.2.5 Spinal Muscular Atrophy

      6. 5.2.6 Other Autosomal Recessive Genetic Disorders

    3. 5.3 Geography

      1. 5.3.1 North America

        1. United States

        2. Canada

        3. Mexico

      2. 5.3.2 Europe

        1. Germany

        2. United Kingdom

        3. France

        4. Italy

        5. Spain

        6. Rest of Europe

      3. 5.3.3 Asia-Pacific

        1. China

        2. Japan

        3. India

        4. Australia

        5. South Korea

        6. Rest of Asia-Pacific

      4. 5.3.4 Middle-East & Africa

        1. GCC

        2. South Africa

        3. Rest of Middle-East and Africa

      5. 5.3.5 South America

        1. Brazil

        2. Argentina

        3. Rest of South America


    1. 6.1 Company Profiles

      1. 6.1.1 23Andme Inc.

      2. 6.1.2 Abbott Laboratories

      3. 6.1.3 F. Hoffmann-La Roche AG

      4. 6.1.4 Cepheid (Danaher Corporation)

      5. 6.1.5 Illumina Inc.

      6. 6.1.6 Luminex Corporation

      7. 6.1.7 Sequenom Inc. (Laboratory Corporation of America Holdings)

      8. 6.1.8 Myriad Genetics

      9. 6.1.9 Autogenomics Inc.

      10. 6.1.10 Thermo Fisher Scientific Inc.

    2. *List Not Exhaustive

**Competitive Landscape covers- Business Overview, Financials, Products and Strategies and Recent Developments

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Frequently Asked Questions

The Global Carrier Screening Market market is studied from 2018 - 2026.

The Global Carrier Screening Market is growing at a CAGR of 9.8% over the next 5 years.

Asia Pacific is growing at the highest CAGR over 2021- 2026.

North America holds highest share in 2021.

Cepheid (Danaher Corporation), Illumina Inc., Thermo Fisher Scientific Inc., Abbott Laboratories, F.Hoffmann-La Roche Ltd are the major companies operating in Global Carrier Screening Market.

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