Carrier Screening Market Size, Share, Growth, Trends, and Global Industry Analysis: By Method (Molecular Screening Test and Biochemical Screening Test), By Type of Carrier Screening (Expanded Carrier Screening (Customized Panel Testing and Predesigned Panel Testing), and Targeted Disease Carrier Screening), By Medical Condition (Pulmonary Conditions, Hematological Conditions, Neurological Conditions, and Others), By Technology (Polymerase Chain Reaction (PCR), DNA Sequencing, Microarrays, and Others), By End User (Hospitals, Reference Laboratories, Physician Offices & Clinics and Others), and Region 2024-2030

The carrier screening market size was valued at US$ 2,374.5 million in 2023 and is anticipated to grow at a CAGR of 11.6% from 2024-2030. The market for carrier screening is being pushed by advances in genetic testing methods, rising desire for early detection, and increased awareness of genetic illnesses. The use of family planning and an increase in the prevalence of hereditary disorders are two further factors driving market expansion.

However, there are drawbacks, including exorbitant expenses, little compensation, and moral dilemmas with genetic testing. There are opportunities to create non-invasive, cost-effective screening techniques and to extend carrier screening to low- and middle-income nations. A move toward customized care, easier access to at-home genetic testing, and the use of AI to improve the precision and effectiveness of screening procedures are some of the major themes. These elements work together to support the market's consistent growth as the need for genetic healthcare solutions that prevent disease increases.

Key Players

The carrier screening market Size includes several companies, such as 23Andme Inc., Abbott Laboratories, Autogenomics Inc., Danaher Corporation, Eurofins Scientific, Fulgent Genetics Inc., Illumina Inc., Invitae Corporation, Luminex Corporation, MedGenome, Myriad Genetics, Natera Inc., Opko Health, Quest Diagnostics Incorporated, Roche AG, Sequenom Inc., Thermo Fisher Scientific Inc., and True Health.

Key Developments

• In April 2021, Illumina and Kartos Therapeutics, Inc. announced that they will collaborate to create a TP53 companion diagnostic (CDx) based on the information found in Illumina's TruSight Oncology comprehensive genomic profile test. It will add hematologic malignancies of the Illumine to TruSight Oncology's products.
• In August 2021, to increase its footprint in somatic molecular diagnostics and cancer testing, Fulgent purchased CSI Laboratories (CSI). CSI provides molecular genetics, immunohistochemistry, fluorescence in-situ hybridization (FISH), and cytogenetic analysis.

Carrier Screening Market Segmentation

By Method: To determine a person's carrier status for hereditary illnesses, molecular screening procedures examine their DNA for certain genetic alterations. These tests are quite accurate and may identify minor genetic alterations at the DNA level, including deletions or single nucleotide polymorphisms (SNPs). They are frequently employed to detect carriers of diseases such as sickle cell anemia, Tay-Sachs syndrome, and cystic fibrosis. Molecular screening helps people make educated decisions about reproduction and health care by offering comprehensive information on a person's genetic composition. This enables the early and accurate identification of hereditary risks. Thanks to improvements in next-generation sequencing (NGS) technology, which makes testing easier and more effective, this approach is becoming more and more common.

By Carrier Screening: Expanded carrier screening (ECS) checks for hundreds of illnesses in a single panel, covering a wide spectrum of genetic disorders that a person may be a carrier of. ECS can be either predesigned or customized; predesigned panels check for a standard list of prevalent and severe illnesses across different ethnic groups, while customized panels let medical professionals choose certain disorders according to a patient's ethnicity or family history. For people or couples looking for thorough information on possible genetic risks for themselves and future children, ECS is helpful. As genetic testing advances, ECS offers comprehensive, easily available insights that assist individuals in making well-informed healthcare and reproductive decisions.

By Medical Condition: The main goal of carrier screening for pulmonary illnesses is to find carriers of genetic abnormalities linked to respiratory system disorders like cystic fibrosis. One of the most prevalent hereditary lung diseases, cystic fibrosis, is brought on by mutations in the CFTR gene. People can better understand their risk of passing this disorder on to their children by using carrier screening for early identification. Because screening yields information that might impact reproductive decisions, it is especially crucial in families with a history of pulmonary illnesses. To assist manage and avoid any future health difficulties for children, carrier screening for pulmonary disorders is becoming more and more suggested, particularly for those in high-risk groups.

By Technology: A popular technique in carrier screening is polymerase chain reaction (PCR), which amplifies certain DNA segments to facilitate the detection of genetic alterations. Because of its great sensitivity and accuracy, PCR may identify even minute genetic variants that are connected to carrier status for several hereditary illnesses. This method is very useful for identifying mutations linked to sickle cell anemia, cystic fibrosis, and other genetic disorders. PCR may produce findings rapidly by amplifying target DNA, enabling accurate and speedy carrier screening. PCR is a well-liked option for clinical and research-based genetic testing due to its effectiveness and reasonable cost.

By End-user: Hospitals are essential to carrier screening because they provide thorough testing in a controlled medical setting. Hospitals may offer accurate and prompt carrier screening for genetic disorders when they are outfitted with cutting-edge technology like Polymerase Chain Reaction (PCR) and next-generation sequencing (NGS). To help potential parents understand their risk of passing on genetic illnesses, carrier screening is frequently included in prenatal or preconception treatment in hospitals. Hospitals also provide access to genetic specialists and counselors who help patients deal with the ramifications of their findings by offering them individualized medical guidance and emotional support. Hospitals are therefore crucial for carrier screening that is accurate, trustworthy, and encouraging.