The carrier screening market has seen considerable growth due to a variety of factors.
• The market for carrier screening has expanded at a swift pace in recent times. The market, valued at $2.72 billion in 2024, is predicted to reach $3.17 billion in 2025, demonstrating a compound annual growth rate (CAGR) of 16.4%. The significant growth during the historic period is due to factors such as increased awareness of genetic disorders, a surge in maternal age, enhanced understanding of family planning and pregnancy, efforts to prevent genetic diseases, public health initiatives, and an intensified focus on inherited conditions.
The Carrier Screening market is expected to maintain its strong growth trajectory in upcoming years.
• Anticipations are high for a rapid expansion in the carrier screening market in the upcoming years. By 2029, it is projected to attain a market value of $5.76 billion, growing at a compound annual growth rate of 16.2%.
This significant growth during the forecasted period is predicted to result from various factors like advancements in precision medicine, the introduction of expanded panel offerings, consumer genomics, and direct-to-consumer testing. Moreover, a focus on rare and ultra-rare diseases, backing from government and insurance agencies, and integration of pharmacogenomics all contribute to this advancement. The forecasted period is also expected to see key trends such as progress in genetic technologies, its incorporation with prenatal testing, and the boon in personalized medicine. Additional factors predicted to influence growth include counseling and education services, together with ethical and legal considerations.
The carrier screening market is predicted to grow due to a rise in fetal chromosomal abnormalities and genetic disorders. Fetal chromosomal abnormalities are defined as an abnormal number or quantity of DNA within a fetus's chromosome. Chromosomal abnormality prenatal testing aims to accurately determine the likelihood of a patient carrying a fetus that has a chromosomal disorder. For example, estimates by the World Health Organization in February 2022 suggest that each year, 240 000 newborns die within the first 28 days of life due to birth defects. Birth defects also account for the death of an extra 170,000 children aged between 1 month and 5 years. Furthermore, a March 2022 article from the Government of the United Nations estimated that Down syndrome impacts 1 in 1,000 to 1 in 1,100 live births across the globe. Annually, this chromosome disorder affects between 3,000 and 5,000 newborns. Consequently, an uptick in fetal chromosomal abnormalities and genetic disorders fuelling the expansion of the carrier screening market.
The carrier screening market covered in this report is segmented –
1) By Type: Expanded Carrier Screening, Targeted Disease Carrier Screening
2) By Medical Condition: Pulmonary Conditions, Hematological Conditions, Neurological Conditions, Other Medical Conditions
3) By Technology: DNA Sequencing, Polymerase Chain Reaction, Microarrays, Other Technologies
4) By End User: Hospitals, Reference Laboratories, Physician Offices And Clinics, Other End Users
Subsegments:
1) By Expanded Carrier Screening: Whole Exome Sequencing (WES), Next-Generation Sequencing (NGS) Panels, Comprehensive Carrier Screening Tests
2) By Targeted Disease Carrier Screening: Single Gene Tests, Disease-Specific Panels, Ethnic Or Population-Specific Screening Tests
Significant firms in the carrier screening market are placing their attention on product enhancements, such as the family of screening tests, in order to maintain their competitive standing. Screening tests refer to medical evaluations or tests executed on people who display no signs of a specific illness or condition. For instance, in June 2023, the Finland-based company, Blueprint Genetics, who are experts in genetic examinations and diagnostics, launched their innovative product - the Screening Tests family. The product is tailored with particular intentions, including pregnancy, family planning, and detailed health analyses for asymptomatic individuals. The aim is to detect any elevated risks, hence equipping individuals with the ability to make educated decisions about family planning and general health. Blueprint Genetics is focused on offering applicable information that prompts informed choices based on existing alternatives, underlining a pledge to assist individuals in deciding about their future health.
Major companies operating in the carrier screening market include:
• Invitae Corporation
• BGI Genomics Co. Ltd.
• Centogene NV
• Eurofins Scientific SE
• Fulgent Genetics Inc.
• Genealogy by Genetics Ltd.
• Illumina Inc.
• Laboratory Corporation of America Holdings
• Luminex Corporation
• MedGenome Inc.
• Myriad Genetics Inc.
• Natera Inc.
• OPKO Health Inc.
• Otogenetics Corporation
• Quest Diagnostics Inc.
• Sema4 Holdings Corporation
• Thermo Fisher Scientific Inc.
• 23andMe Holding Co.
• REALM IDx Inc.
• Associated Regional and University Pathologists Inc.
• Genedx LLC
• Genomic Health Inc.
• GenPath Consultants And Technologies Private Limited
• Good Start Genetics Inc.
• NIPD Genetics Co. Pvt. Ltd.
• OraSure Technologies Inc.
• Pathway Genomics Corp.
• PerkinElmer Inc.
• PreventionGenetics LLC
• Progenity Inc.
North America was the largest region in the carrier screening market in 2024. Asia-Pacific is expected to be the fastest-growing region in the carrier screening market report during the forecast period. The regions covered in the carrier screening market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa.