Carrier Screening Market
Number of pages: 100 | Report Format: PDF | Published date: 14 March, 2023
Historical Years – 2021 | Base Year – 2022 | Forecasted Years – 2023-2031
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Report Attribute |
Details |
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Market size value in 2022 |
US$ 1.69 billion |
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Revenue forecast in 2031 |
US$ 5.00 billion |
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Growth Rate |
CAGR of 12.8% from 2023 to 2031 |
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Base year for estimation |
2022 |
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Forecast Period |
2023-2031 |
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Historical Year |
2021 |
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Segments covered |
Test, Disease Type, Technology, End-user, and Region |
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Regional scope |
North America, Europe, Asia Pacific, and the Rest of the World (ROW) |
According to the deep-dive market assessment study by Growth Plus Reports, the global carrier screening market was valued at US$ 1.69 billion in 2022 and is expected to register a revenue CAGR of 12.8% to reach US$ 5.00 billion by 2031.
Market Fundamentals
Carrier screening is a type of genetic test that can determine whether or not a person contains a gene that causes specific genetic abnormalities. It allows us to determine the likelihood of having a child with a genetic condition before or during pregnancy. A blood, saliva, or tissue sample from the inside of the cheek is tested for carrier status. Test results can be negative, indicating that the gene is not present, or positive, indicating that the gene is present. The partner most likely to be a carrier is usually tested first. If the test findings demonstrate that the first partner is not a carrier, no further testing is required. If the results of the tests demonstrate that the first partner is a carrier, the other partner is tested.
The majority of carrier screenings are for recessive diseases. A recessive condition requires two genes, one inherited from the mother and one inherited from the father. A person is considered a carrier if they carry only one gene for a condition. Carriers are frequently unaware that they carry a gene for a condition. They normally don't have any symptoms or only have minor ones. A blood, saliva, or tissue sample from the inside of the cheek is tested for carrier status. The test results can be negative (do not have the gene) or positive (do have the gene). The partner most likely to be a carrier is usually tested first. If the test findings demonstrate that the first partner is not a carrier, no further testing is required.
Carrier screening often entails examining DNA from a blood sample. Nonetheless, a sample of cells from the interior of the cheek is sometimes tested. Individuals give samples by swishing a particular fluid in their mouth, spitting it into a specimen container, or rubbing a cotton swab inside their cheek. Carrier screening should ideally be performed before a woman becomes pregnant. If it is done later and shows that both partners have a recessive gene for the same illness, they may choose to have prenatal diagnostic testing. In other words, the fetus might be checked for the condition before birth. If the fetus has the disease, treatment for the fetus is feasible, or the pregnancy may be terminated.
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Market Dynamics
The growing number of children delivered due to assisted reproductive technology cycles such as in vitro fertilization (IVF) is expected to increase the need for carrier screening. Carrier screening is preimplantation genetic testing conducted on embryos during IVF. The test is performed prior to transferring embryos to the uterus. This will help doctors and parents choose embryos with minimal risk of genetic abnormalities in the newborns. According by the American Society for Reproductive Medicine (2022), 73,602 infants were born in the United States in 2020 due to 301,523 cycles.
Similarly, the prevalence of cystic fibrosis (CF) is gradually declining in Canada and the United States. Between 1995 and 2019, the rate fell by 1.6% each year. An article published in November 2022 by BioNews, Inc. indicated that between 1995 and 2019, about 21,356 newborns in the United States and 2,478 newborns in Canada were diagnosed with CF. The availability of carrier screening, preimplantation genetic testing, and genetic counseling are important factors in the decline of CF incidence rates.
Market Ecosystem
The global carrier screening market has been analyzed from five perspectives: Test, Disease Type, Technology, End-user, and Region
Carrier Screening Market by Type
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Based on type, the global carrier screening market has been segmented into expanded carrier screening and targeted disease carrier screening.
Over the projected period, expanded carrier screening is expected to dominate the market. The ECS is the emerging carrier screening type since it employs a broad approach by screening for various genetic illnesses independent of ethnic background. Market participants are pursuing strategic efforts such as product development to increase their market share. For example, Mitera announced the launch of two genetic test products in the United States in January 2022, including an at-home expanded carrier screening test that supports consumers in determining the likelihood of any one of 421 genetic illnesses. This improves consumer product accessibility and convenience.
Carrier Screening Market by Disease Type
Based on disease type, the global carrier screening market has been segmented into cystic fibrosis, Tay-Sachs disease, Gaucher disease, sickle cell disease, spinal muscular atrophy, and others.
Over the projected period, the cystic fibrosis (CF) disease segment is likely to dominate the market. The demand for carrier screening is expected to rise as people become more aware of genetic illnesses. For example, in October 2022, Ambry Genetics launched a reproductive health program powered by its digital platform, which improves the consumer experience by providing simpler access to genetic testing, reporting, and counseling. The program supports many test types, including carrier screening, NIPT, and hereditary cancer. The key tests in carrier screening are a panel for Spinal Muscular Atrophy/Cystic Fibrosis, Fragile X screening, an Ashkenazi Jewish panel, and a comprehensive and guidelines-based panel.
More than 1,300 recessive genetic diseases afflict babies. The American Academy of Obstetricians and Gynaecologists recommends that all pregnant women undergo carrier screening. Cystic fibrosis (CF) is a major medical problem for carrier screening. When both parents are CF carriers, the likelihood of a newborn having CF is 25%, while the likelihood of a newborn being a carrier without having CF is 50%.
Spinal Muscular Atrophy (SMA) is another prevalent recessive condition. Around 98% of affected individuals inherited a non-functional copy of SMN1 from their parents. As reported in the Egyptian Journal of Medical Human Genetics (February 2022), the detection frequency of SMA carriers is high since it accounts for important hereditary causes of death among newborns. According to the researchers, qPCR carrier screening for SMA is a quick and inexpensive.
Carrier Screening Market by Technology
Based on technology, the global carrier screening market has been segmented into DNA sequencing, polymerase chain reaction, microarrays, and others.
The DNA sequencing segment led the global market, which is expected to continue during the Carrier Screening Market Forecast period. This is due to an increase in the incidence of genetic illnesses among the general population. Furthermore, increased knowledge of genetic testing without regard for ethics and increased application of technology are projected to drive market expansion.
Carrier Screening Market by End-user
Based on end-users, the global carrier screening market has been segmented into hospitals, laboratories, physician offices & clinics, other. The laboratories segment is likely to dominate the market during the forecast period.
Market participants are contemplating investment plans to meet the growing need for genetic testing. For example, Redcliffe Labs announced a USD 10 million investment in November 2022 to enhance its specialty and genomics testing capabilities. The investment will improve NGS facilities across all reference labs, accelerate TAT, and produce inexpensive genomics. Oxford Nanopore, Illumina, and ThermoFisher are among the leading vendors of sequencing solutions to laboratories.
Furthermore, end-users also engage in vertical acquisitions and mergers to incorporate carrier screening services. For instance, Kindbody, a fertility and family clinic, said in June 2022 that it would acquire Phosphorus Laboratories and conduct genetics tests and screening in-house to provide comprehensive answers. Before the acquisition, the clinic outsourced the enhanced carrier screening and preimplantation genetic testing for Aneuploidy to a third party.
Carrier Screening Market by Region
Based on region, the global carrier screening market has been segmented into North America, Europe, Asia Pacific, Latin America, and the Middle East & Africa.
Over the projected period, North America is expected to lead the market. According to government statistics released in November 2021, around 229,200 Canadians were diagnosed with cancer in 2021. In 2021, prostate cancer was predicted to be the most commonly diagnosed cancer, accounting for 46% of all cancer diagnoses. According to the same authority, breast cancer affects one out of every eight women. As a result, the rising prevalence of cancer is likely to drive up demand for carrier screening, increasing market growth.
The increasing number of product approvals and subsequent launches by the US Food and Drug Administration (FDA) and the high concentration of key players involved in research activities for the innovation of novel genetic testing products are expected to drive market growth in North America. For instance, Mitera stated in January 2022 that its Peaches & Me and 23Pears at-home reproductive genetic testing kits would be available in all 50 states. Peaches & Me is the first non-invasive prenatal test (NIPT) that people can obtain online and have performed at their convenience. It can screen for diseases like Down syndrome and predict the gender of the baby as early as ten weeks of pregnancy.
Asia Pacific is expected to have the fastest growth in the market due to improved healthcare infrastructure, well-designed reimbursement policies, and growing economic growth, all of which will have a favorable impact on the industry. The market will benefit from increased initiatives by non-profit groups in the region. For example, the Thalassemia Society announced in December 2022 that it would undertake 20,000 to 30,000 thalassemia carrier screenings for pregnant women in rural Pune, India. In India, approximately 10,000 children are born with thalassemia each year.
Competitive Landscape
Companies and service providers in the market are increasing their global footprint through technology discovery and development, vertical collaboration, developing a strong product portfolio through startups, mergers and acquisitions, and regional expansion. For instance, QIAGEN announced the launch of QIAseq, an extended carrier screening panel, in June 2019. It is used to identify over 200 diseases by providing information about the targets and genes. Some of the prominent market players in the global carrier screening market include:
Strategic Development
The Asia Pacific is the key growth region in the global carrier screening market.
The primary key driver is the growing number of children delivered due to assisted reproductive technology cycles.
The cystic fibrosis disease type segment accounts for the largest share in the global carrier screening market.
The revenue CAGR of the global carrier screening market during the forecast period will be 12.8%.
Some prominent players in the global carrier screening market include Myriad Genetics Inc., Fulgent Genetics Inc., and Cepheid.
*Insights on financial performance are subject to the availability of information in the public domain
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Snehal Deshmukh
Principle Consultant
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