GVR Report cover Carrier Screening Market Size, Share & Trends Report

Carrier Screening Market Size, Share & Trends Analysis Report By Type (Expanded Carrier Screening, Targeted Disease Carrier Screening), By Medical Condition, By Technology, By Region, And Segment Forecasts, 2023 - 2030

  • Report ID: GVR-4-68040-016-9
  • Number of Report Pages: 180
  • Format: PDF, Horizon Databook
  • Historical Range: 2018 - 2021
  • Forecast Period: 2023 - 2030 
  • Industry: Healthcare

Report Overview

The global carrier screening market size was valued at USD 1,195.2 million in 2022 and is expected to expand at a compound annual growth rate (CAGR) of 12.4% from 2023 to 2030. The rise in funding by the government and private sector to support the increasing demand for genetic tests is expected to fuel market growth. The adoption of cost-effective technology for carrier screening is considered to be a key driver. Increasing launch of novel tests for better diagnosis and treatment footholds the global market. The increasing prevalence of genetic disorders and chronic diseases is a supporting factor for market growth.

U.S. carrier screening market size, by technology, 2020 - 2030 (USD Million)

The increasing number of newborns through assisted reproductive technology cycles, such as in vitro fertilization (IVF) is anticipated to boost the use of carrier screening. In IVF, carrier screening is a type of preimplantation genetic testing that is performed on embryos. The test is conducted before moving embryos to the uterus. This is to assist doctors and parents to select embryos with a low probability of genetic disorders in the newborn. According to the article published in March 2022 by the American Society for Reproductive Medicine, in 2020, 73,602 newborns were the result of 301,523 cycles performed in the U.S.

Similarly, the incidence rate of cystic fibrosis (CF) is gradually decreasing in Canada and the U.S. From 1995 to 2019, the rate dropped by 1.6% per year. In November 2022, an article by BioNews, Inc. stated around 21,356 newborns in the U.S. and 2,478 newborns in Canada were with CF between 1995 and 2019. The availability of carrier screening, pre-implantation genetic testing, and genetic counseling are considered to be key reasons for declining rates of CF’s incidence.

Some players in the market have opted for various partnerships, mergers and acquisitions, and product development leading to innovation in the market. For instance, in December 2022, Oxford Nanopore Technologies announced to partner with Bio-Techne to develop an assay for carrier screening. The collaboration is expected to integrate the long-range PCR technology of Bio-Techne and the sequencing expertise of Oxford Nanopore for developing a combined dry and wet lab kit for genotyping 11 genes important for carrier screening. The initiative is to address the increasing demand by clinical labs for more equitable and informative carrier screening tests.

However, the cost of carrier testing is likely to hamper the growth of the market. Since it is not a mandatory test, offers liberty to the insurance companies to set terms and conditions as per companies’ regulations. Hence, an additional USD 100 to 1,000 can be added to out-of-pocket expenses.

Type Insights

The expanded carrier screening (ECS) is considered to be the largest and fastest revenue-generating segment with a 12.9% CAGR between 2023 and 2030. The ECS is the emerging carrier screening type as it considers a broad technique by screening for numerous genetic disorders regardless of ethnic background. Companies in the market are indulging in strategic initiatives such as product development to maximize their market share. For instance, in January 2022, Mitera announced to launch of two genetic test products in the U.S., including an at-home expanded carrier screening test that assists individuals to determine the probability of any one of 421 genetic disorders. This increases product accessibility and convenience for consumers.

Similarly, in January 2021, GeneDx, Inc. announced to introduce new genetic tests in the market, including repeat expansion analysis for Friedreich ataxia, spinocerebellar ataxia (SCA), and other common forms of genetic ataxias. The company’s expanded test provides the flexibility of requesting multi or single-gene repeat expansion analyses. Hence, the informative test is expected to assist in personalized medical management and widen the usage of the test.

Medical Condition Insights

With the increasing awareness of genetic disorders, the demand for carrier screening is anticipated to grow. For instance, in October 2022, Ambry Genetics introduced a reproductive health program that is driven by its digital platform that improves consumers’ experience via easier access to genetic testing, reporting, and counseling. The program supports numerous test types, including carrier screening, NIPT, and hereditary cancer. In carrier screening, the major tests include Spinal Muscular Atrophy panel/Cystic Fibrosis, Fragile X screening, Ashkenazi Jewish panel, and a comprehensive and guidelines-based panel.

There are over 1,300 recessive genetic disorders that affect newborns. American College of Obstetricians and Gynecologists recommends that carrier screening should be mandatory for every pregnant woman. Cystic fibrosis (CF) is estimated to be a significant medical condition for carrier screening. The probability of newborns with CF, when both parents are the CF carrier is 25%, while there is 50% chance of a newborn being a carrier without having CF.

Similarly, Spinal Muscular Atrophy (SMA) is one of the common recessive diseases. Around 98% of affected cases have inherited a non-working copy of SMN1 from their parents. In February 2022, research by the Egyptian Journal of Medical Human Genetics stated that the detection frequency of SMA carriers is high since it accounts for key genetic causes of death amongst newborns. The researchers believe that qPCR carrier screening for SMA is a rapid and cost-effective test. 

Technology Insights

The DNA sequencing segment dominated the market and accounted for the largest revenue share of 39.9% in 2022. In 2019, the International Peace Maternity and Children’s Hospital, China adopted whole exome sequencing for carrier screening tests. In 2020, the hospital had 600 samples, which increased to 1,000 samples in 2021 and 700 samples by September 2022. Thus, various prenatal diagnostics clinics incorporate sequencing technology in the carrier screening tests.

Technological advancements such as chromosomal microarray and next-generation sequencing technology, in the market, are accelerating. According to the National Tay-Sachs and Allied Diseases Association, the NGS-based full-exon gene sequencing is a highly accurate molecular test that has the capability to detect high carriers across all ethnic groups. However, genotyping is considered to be less sensitive than NGS technology for Tay-Sachs carrier screening.

End-user Insights

The laboratory segment dominated the global market by contributing 47.1% of the market share in 2022. Players in the market are strategizing investment proposals to address the increasing demand for genetic testing. For instance, in November 2022, Redcliffe Labs announced investing USD 10 million to expand its specialized and genetics testing capabilities. The investment is to enhance the NGS facilities across all the reference labs and faster TAT along with developing affordable genomics. Oxford Nanopore, Illumina, and ThermoFisher are considered to be key providers of sequencing solutions to the labs.

Global Carrier Screening Market Share, by end-user, 2022 (%)

Furthermore, end-users are indulging in vertical acquisitions and mergers to incorporate carrier screening services. For instance, in June 2022, Kindbody, a fertility and family clinic announced the acquisition of Phosphorus Labs and establish genetics tests and screening in-house to offer comprehensive solutions. Before the acquisition, the clinic outsourced the expanded carrier screening and preimplantation genetic testing for Aneuploidy. The increasing in-house services of carrier screening by end-users are anticipated to have a significant impact on the valuation of the market. 

Regional Insights

The North American market is estimated to have a dominant position in the market with a share of 40.19% in 2022. Owing to the presence of a well-established and resourceful healthcare system in this region. Along with the presence of numerous key players in the North American region that offers a competitive edge for market growth. Since there is relatively higher awareness about chromosomal disorders and their prevention in the region is expected to boost the market. North America also reports a higher number of hematological and neurological disorders which supports the requirement for screening tests.

Carrier Screening Market Trends by Region

Asia Pacific is estimated to witness the fastest growth in the market owing to the enhanced infrastructure of healthcare facilities, well-designed reimbursement policies, and improving growth of economic factors, resulting in a positive impact on the market. Increasing initiatives by non-profit organizations in the region will boost the market. For instance, in December 2022, the Thalassemia Society announced to conduct of around 20,000 to 30,000 thalassemia carrier screening for pregnant women in the rural areas of Pune, India. Every year, around 10,000 children are born with thalassemia in India.

Key Companies & Market Share Insights

Companies and service providers in the market are adopting strategies such as technology discovery, and development, vertical collaboration, establishing a strong product portfolio through startups, mergers and acquisitions, and regional expansion to increase their global footprint. For instance, in June 2019, QIAGEN announced to launch QIAseq, an expanded carrier screening panel. It is employed to identify over 200 diseases by offering insights into the targets and genes. Some of the prominent players in the global carrier screening market include:

  • 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. 

Carrier Screening Market Report Scope 

Report Attribute


Market size value in 2023

USD 1,263.5 million

Revenue forecast in 2030

USD 2.86 billion

Growth rate

CAGR of 12.4% from 2023 to 2030

Base year for estimation


Historical data

2018 - 2021

Forecast period

2023 - 2030

Quantitative units

Revenue in USD million and CAGR from 2023 to 2030

Report coverage

Revenue forecast, company ranking, competitive landscape, growth factors, and trends

Segments covered

Type, medical conditions, technology, end-user, region

Regional scope

North America; Europe; Asia Pacific; Latin America; Middle East & Africa

Country scope

U.S.; Canada; Germany; U.K.; France; Italy; Spain; Denmark; Sweden; Norway; China; Japan; India; South Korea; Australia; Thailand; Brazil; Mexico, Argentina; South Africa; Saudi Arabia, UAE; Kuwait

Key companies profiled

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.

Customization scope

Free report customization (equivalent up to 8 analyst’s working days) with purchase. Addition or alteration to country, regional & segment scope.

Pricing and purchase options

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Global Carrier Screening Market Segmentation

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2018 to 2030. For this study, Grand View Research has segmented the global carrier screening market report based on type, medical conditions, technology, end-user, and region:

  • Type Scope Outlook (Revenue, USD Million, 2018 - 2030)

    • Expanded Carrier Screening

    • Targeted Disease Carrier Screening

  • Medical Condition Scope Outlook (Revenue, USD Million, 2018 - 2030)

    • Cystic Fibrosis

    • Tay-Sachs

    • Gaucher Disease

    • Sickle Cell Disease

    • Spinal Muscular Atrophy

    • Other

  • Technology Scope Outlook (Revenue, USD Million, 2018 - 2030)

    • DNA Sequencing

    • Polymerase Chain Reaction

    • Microarrays

    • Other

  • End-user Scope Outlook (Revenue, USD Million, 2018 - 2030)

    • Hospitals

    • Laboratories

    • Physician Offices & Clinics

    • Other

  • Regional Outlook (Revenue, USD Million, 2018 - 2030)

    • North America

      • U.S.

      • Canada

    • Europe

      • U.K.

      • Germany

      • France

      • Italy

      • Spain

      • Denmark

      • Sweden

      • Norway

    • Asia Pacific

      • Japan

      • China

      • India

      • South Korea

      • Australia

      • Thailand

    • Latin America

      • Brazil

      • Mexico

      • Argentina

    • Middle East & Africa

      • South Africa

      • Saudi Arabia

      • UAE

      • Kuwait

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