Carrier screening is the testing of asymptomatic individuals for genetic disorders with the aim of identifying carriers of these disorders to inform reproductive decisions. Carrier screening is generally recommended for diseases that are Autosomal Recessive (such as Cystic Fibrosis and Tay-Sachs Disease), X-Linked (such as Fragile X Syndrome and Hemophilia), and single-gene dominant disorders (such as Huntington Disease) as it allows prospective parents to conceive children at low risk and maximize reproductive choices. The carrier screening market has evolved from panels limited to a small number of diseases to expanded carrier screening panels that can screen for hundreds of disorders simultaneously.
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 increasing their product portfolio by launching new and advanced carrier screening tests. For instance, in June 2022, Illumina launched its expanded carrier screening panels covering over 200 autosomal recessive and X-linked conditions.
The key opportunities in the carrier screening market include increasing adoption of expanded carrier screening panels and non-invasive prenatal testing. Expanded carrier screening is rapidly gaining acceptance over traditional screening as it screens for hundreds of disorders in one test. This reduces the need for sequential testing and provides couples with more comprehensive information to make informed family planning decisions.
Geographically, North America dominates the global carrier screening market due to favorable reimbursement policies and increasing awareness regarding genetic testing. However, the Asia Pacific region is anticipated to witness the highest growth over the forecast period owing to the large target patient population, increasing healthcare expenditure, and growing focus of key players on emerging economies.
Market drivers:
The growing adoption of preconception and prenatal carrier screening is a major driver for the carrier screening market growth. Preconception screening allows prospective parents to plan their reproductive decisions in advance and undergo pre-implantation genetic diagnosis (PGD) or in-vitro fertilization (IVF) if found to be carriers. Additionally, prenatal screening helps reduce pregnant women's anxiety by informing them early in pregnancy about any genetic risks.
Market restraints:
The high cost of expanded carrier screening panels remains a major restraint hampering the market growth. Traditional screening covers only a limited number of disorders whereas expanded panels involve a high cost of up to $1000 per couple. This hampers adoption in developing nations with low healthcare spending. Limited insurance coverage for carrier screening further increases out-of-pocket spending.
Segment Analysis
The carrier screening market is segmented based on the type of screening, technology, end user. The type of screening segment includes expanded carrier screening and targeted disease screening. Within this, expanded carrier screening dominates as it tests for hundreds of genetic conditions and is recommended for all pregnant women or couple planning pregnancy by professional medical organizations. It has a high detection rate for genetic disorders and provides more comprehensive information.
Global Analysis
North America dominates the global carrier screening market due to rising focus on preventive healthcare, presence of established players and growing awareness about carrier screening tests. The region is expected to grow at a significant rate during the forecast period owing to growing government support for carrier screening. Europe is the second largest market globally. Asia Pacific exhibits the highest growth rate during the forecast period due to increasing healthcare expenditure, rising awareness about genetic disorders and growing focus on preventive healthcare.
