The carrier screening market involves the identification of recessive genetic mutations through carrier screening tests. Carrier screening helps in the assessment if an individual is carrying a genetic mutation that can potentially cause a genetic disorder in their children. It screens for over 300 types of genetic disorders through blood tests that analyze DNA or RNA. Carrier screening helps couples prepare for the risks and make informed family planning decisions.

The global carrier screening market is estimated to be valued at US$ 2.34 Bn in 2024 and is expected to exhibit a CAGR of 17% over the forecast period 2023 to 2030.

Key Takeaways

Key players operating in the carrier screening market are Eurofins Scientific (US), Invitae (US), OPKO Health (US), Fulgent Genetics (US), Quest Diagnostics (US), Sema4 (US), Myriad Genetics (US), Illumina (US), and Thermo Fisher Scientific (US). These players are focusing on expanding their product portfolio and geographical presence through mergers and acquisitions.

There is a growing demand for carrier screening owing to the rising prevalence of genetic disorders and increasing awareness about prenatal testing. According to the Centers for Disease Control and Prevention (CDC), around 2-3% of babies in the U.S. are born with a birth defect each year. Carrier screening helps in lowering the risk of genetic disorders in newborns.

Technological advancements are also fueling market growth. Next-generation sequencing (NGS) allows for accurate, efficient, and cost-effective carrier screening. Other innovations such as microarrays and polymerase chain reaction (PCR) have made carrier screening accessible to more people.

Market Trends

Non-invasive prenatal tests (NIPT) are gaining popularity as they analyze fetal DNA from a simple blood draw of the mother and provide results earlier than conventional screening. NIPT screens for common aneuploidies and can also detect some genetic disorders. However, they have limitations as they cannot identify all genetic disorders.

Panel testing with expanded carrier screening (ECS) panels including hundreds of genetic conditions is becoming more widespread. ECS assesses multiple disorders simultaneously from a single sample collection, allowing for early pregnancy planning or preconception testing. This trend is expected to continue over the forecast period.

Market Opportunities

The growing focus on direct-to-consumer (DTC) carrier screening represents a major opportunity. DTC services allow customers to order carrier screening tests online without requiring a doctor's prescription. The ease and privacy provided by DTC screening are expected to appeal to more customers globally.

The Asia Pacific region presents considerable growth prospects for carrier screening due to the large untapped population, growing healthcare infrastructure, and rising medical tourism in countries such as India and China. Manufacturers are anticipated to leverage this opportunity through partnerships and facility expansion programs.

Impact of COVID-19 on Carrier Screening Market growth
The COVID-19 pandemic significantly impacted the global carrier screening market in 2020. Elective reproductive care was deferred, including invasive diagnostic testing and fertility treatments. With lockdowns and social distancing norms imposed worldwide, appointments were postponed, which reduced carrier screening procedures. However, the demand for at-home carrier screening tests increased as people feared visiting clinics. Telehealth services also emerged to provide genetic counseling and testing virtually.

In the pre-COVID era, carrier screening was largely conducted as part of prenatal or preconception care in clinical settings. Now, the market is shifting to direct-to-consumer models for self-testing. While carrier screening procedures declined in 2020, the long-term impact of the pandemic is likely to accelerate the adoption of at-home kits. Telehealth is expected to play a vital role going forward by educating and guiding individuals remotely. As clinics resume normal operations with safety protocols, the market will gradually recover lost ground. However, the renewed focus on preventive healthcare and personalized medicine indicates stronger future growth prospects for carrier screening overall.

North America region concentration in Carrier Screening Market
In terms of value, North America accounted for the largest share of the global carrier screening market in 2023, estimated at around 40%. This concentration reflects the region's advanced healthcare infrastructure and widespread health insurance coverage supporting genetic testing adoption. The growing priority on preventive care in the US and Canada contributes to higher per capita spending on carrier screening and surveillance of inherited conditions. Additionally, the presence of leading market players and technology innovators in the US has propelled the regional market. However, Asia Pacific is predicted to witness the fastest growth through 2030, driven by rising healthcare access and expenditures in populous nations like China and India.

Europe's second largest market for Carrier Screening
Europe holds the second position globally in terms of carrier screening market value currently. This can be attributed to factors such as increasing focus on prenatal diagnosis, favorable reimbursement policies, and growing public awareness in key markets like the UK, Germany, France and Italy. The regional prevalence of genetic disorders positively impacts market demand. However, the market experiences price regulation pressures which vary widely across European countries. Still, Europe maintains its strong position with significant opportunities in Eastern European nations where healthcare infrastructure is advancing.