NIPT Set to Surge as Five Leading U.S. Genetic Testing Companies Form Prenatal Screening Alliance
Washington time, January 4,Counsyl,Illuminansyl, Progenity, Natera, and Laboratory Corporation of America’s specialty lab Integrated Genetics—five leading genetic testing companies—jointly announced the establishment of the Coalition for Advancing Prenatal Screening (CAPS). It was revealed that CAPS will work collaboratively to better achieve non-invasive prenatal screening through cell-free DNA (cfDNA)-based non-invasive prenatal testing (NIPT). The coalition aims to raise public awareness of the value of cfDNA-based NIPT and provide services of the highest standards and quality. Additionally, CAPS will be committed to promoting relevant legislation and insurance coverage to enhance patients’ personalized care experiences.
Among the alliance members, Illumina has garnered the most attention. In its early years, Illumina primarily occupied an upstream position in the industry chain, providing sequencing instruments and chips to sequencing service providers. After acquiring the gene sequencing company Solexa for $600 million in 2007, it entered the midstream market of sequencing services. In 2013, it acquired Verinata Health, formally establishing its presence in the non-invasive prenatal testing (NIPT) market. Illumina has played an indispensable role in significantly reducing the cost of next-generation sequencing (NGS) tests, thereby enabling gene sequencing to become accessible to the general population, and the company holds a leading position in the global gene sequencing market. It is predicted that Illumina will also hold a prominent position within the CAPS alliance.
Natera is a publicly listed diagnostic sequencing company that primarily provides non-invasive prenatal testing (NIPT), which has been previously covered by VCBeat. Natera’s core technologies are its multi-locus detection technology and DNA separation technology, both of which offer extremely high sensitivity and require only a single drop of blood as a sample. Beyond NIPT, Natera’s technology holds significant promise in the field of oncology testing, where it can reduce the false-negative rate in clinical diagnostics. Meanwhile, Natera adheres to the principles of test feasibility and cost-effectiveness. By leveraging non-invasive testing techniques and conducting high-volume analyses through large-scale laboratories, the company is able to perform tests at a lower cost.
Moreover, Natera’s test offerings are a significant highlight. In addition to mainstream Down syndrome screening, it also enables fetal microdeletion testing, requiring just a single drop of blood. Natera’s leadership demonstrates strong business acumen, having established its own coverage network in the United States while simultaneously expanding into international markets through collaborations with multiple overseas laboratories. Previously, Vice President Mike Brues expressed considerable optimism about the Chinese market.
Whether viewed from the perspective of core technologies or business model, Natera is a formidable company. Despite the increasingly intense competition in the non-invasive prenatal testing (NIPT) market since 2013, Natera has continued to achieve strong results. In 2013, Natera’s cumulative sales reached $15 million, and were projected to hit $220 million by 2016. By 2015, the number of individuals tested via sequencing had reached 310,000. Natera ranks fourth in the U.S. prenatal genetic testing market, positioning it as an industry leader.
Laboratory Corporation of America is an S&P 500 company in the United States and a global leader in medical diagnostics, providing comprehensive services from laboratory to clinic. Laboratory Corporation of America aims to improve and enhance people's quality of life through first-class diagnostic solutions, accelerate the development of innovative drugs, and bring better medical experiences to patients. In 2015, the company's net revenue exceeded $8.5 billion, with business operations covering 60 countries.
Progenity is a diagnostic sequencing services company engaged in the development of molecular diagnostic technologies and the provision of sequencing services. Founded in 2002, Progenity has completed two rounds of financing, raising a total of $25.5 million. The most recent round, amounting to $12 million, was closed on August 7, 2016. In the same year, Progenity acquired Carmenta Bioscience to obtain preeclampsia screening technology (preeclampsia is a condition characterized by the onset of hypertension and proteinuria after 20 weeks of gestation in women who previously had normal blood pressure, potentially affecting multiple organ systems). Currently, Progenity employs approximately 450 people and projects an annual revenue of $68.4 million.
Unlike the aforementioned companies, Counsyl advocates for preconception genetic carrier screening. Based on the results of Counsyl’s spectrum genetic testing, in vitro fertilization combined with preimplantation genetic diagnosis (IVF/PGD) or IVF combined with comprehensive chromosomal screening (IVF/CCS) is employed for diagnostic screening. After identifying embryos free of genetic defects, healthy embryos are transferred into the mother’s uterus for development and growth. Embryos selected through genetic carrier screening are of significantly higher quality than those obtained from 1,000 natural conceptions by couples in their prime reproductive years, thereby helping prospective parents achieve precise eugenic outcomes. This technology gained prominence in 2014 and was well-received by prospective parents and physicians due to its rapid turnaround, simplicity, and affordability.
The formation of an alliance by several leading gene sequencing companies not only underscores the massive scale of the non-invasive prenatal testing (NIPT) market but also reflects a collective effort to establish industry standards after each company has reached a certain level of development.
NIPT screens for fetal aneuploidy in early pregnancy by analyzing cell-free fetal DNA in maternal peripheral blood. Aneuploidy disorders are characterized by abnormal chromosome numbers, which can lead to genetic conditions such as birth defects in newborns. Although serum protein-based screening for chromosomal aneuploidy has been available for decades, its accuracy and practicality have remained limited. Non-invasive prenatal testing (NIPT) is minimally invasive and offers higher sensitivity, demonstrating superior performance and greater market potential compared to previous technologies. Since 2011, cfDNA-based non-invasive prenatal testing has become the preferred method for clinical aneuploidy screening in Europe and the United States.
“CAPS members will work together to ensure the innovation and accuracy of screening, bringing benefits to expectant mothers across different income levels and age groups.” Dr. Arnold W. Cohen, Chairman of the CAPS Clinical Advisory Committee and Honorary Chairman of Einstein Healthcare, stated, “At the same time, we will also provide valuable information to users and the public. We believe this is of great importance.”
Under Cohen’s leadership, CAPS is establishing a Clinical Advisory Committee to provide the public with an independent medical perspective. The board will be announced in the first half of 2017.
Looking at the domestic landscape, the implementation of the two-child policy has expanded the entire maternal and child health market. In the broader context of promoting eugenics and healthy childbirth, prenatal testing related to these goals is bound to see significant promotion. From a technological perspective, non-invasive prenatal testing (NIPT) offers substantial advantages over traditional Down syndrome screening methods. Although the current market penetration rate for NIPT in China is less than 10%, with technological maturation and rising economic standards, the expansion of the NIPT market is likely only a matter of time.