BillionToOne Files IPO Prospectus: From Non-Invasive Prenatal Testing to Oncology Diagnostics, Achieves $125M Revenue in Four Years

Genetic testing is a long-term, high-potential sector.

Remained highly active in 2024. In September 2024, BillionToOne completed a $130 million Series D financing round, achieving a valuation exceeding $1 billion. The round was led by Premji Invest, with participation from new investor Neuberger Berman. Existing investors, including Adam Street Partners, Baillie Gifford, Hummingbird Ventures, Civilization Ventures, Libertus Capital, and Fifty Years, also participated. The funds will be used to expand and scale BillionToOne’s prenatal and oncology businesses.

This California-based company is dedicated to making molecular diagnostics more powerful, efficient, and accessible. Its patented Quantitative Counting Technology (QCT) has played a pivotal role in the development of diagnostic tests. Leveraging its precise proprietary technology, BillionToOne has grown from zero to $125 million in revenue over the past four years.

BillionToOne is a company co-founded by multiple PhD graduates from top-tier institutions such as Harvard, Stanford, and MIT. Dr. Oguzhan Atay, Co-founder and CEO of BillionToOne, earned his PhD from Stanford University and has long been dedicated to integrating machine learning with genetics to address complex challenges in cell biology. Dr. David Tsao, Co-founder and Chief Technology Officer, holds a PhD in Bioengineering from Rice University, with a primary research focus on gene sequencing analysis. Prior to co-founding BillionToOne, Dr. Tsao was the third employee at Adku, a data platform that was later acquired by Groupon.

Leveraging their profound academic backgrounds and exceptional technical expertise, they have jointly developed a powerful technological platform: Quantitative Counting Templates™ (QCTs™) technology. This technology enables the precise counting of DNA molecules at single-base-pair resolution, thereby facilitating the accurate detection of diseases caused by minor DNA variations, such as sickle cell disease and cystic fibrosis, as well as circulating tumor DNA (ctDNA) in cancer.

The working principle of QCTs technology is quite sophisticated: first, a defined quantity of traceable synthetic DNA fragments (i.e., QCTs) is added to the patient’s blood sample; then, PCR technology is used to amplify both the DNA fragments of interest and the QCTs; next, the QCTs in the amplified sample are counted to calculate the amplification factor; finally, this amplification factor is applied to determine the original number of DNA fragments of interest in the sample, with precise quantification achieved through BillionToOne’s proprietary machine learning and computational methods.

In addition to QCTs technology, BillionToOne possesses several other advanced technological platforms. Dilution Tagging technology leverages statistical compression algorithms to compress DNA samples with a high dynamic range while preserving the original signal during physical DNA sample preparation. The Spike-in technology customizes synthetic DNA controls for each assay and adds them to every patient sample, thereby enhancing the accuracy of gene copy number determination for each patient. qSanger technology combines Spike-in technology with customized signal processing techniques applied to Sanger sequencing and capillary electrophoresis, achieving NGS-level precision and serving as a low-cost, high-throughput diagnostic tool.

Overall, BillionToOne has addressed challenges that traditional detection methods fail to resolve through its innovative molecular counting approach. Its unique technology platform not only enhances the sensitivity and accuracy of testing but also demonstrates significant application potential in prenatal screening and oncology diagnostics.

According to the clinical validation results disclosed by BillionToOne, its technology demonstrated 100% analytical sensitivity and specificity in non-invasive prenatal testing (NIPT) for fetal red blood cell antigens, and achieved a clinical sensitivity of up to 93.3% in the UNITY carrier screening test.

To date, BillionToOne has successfully launched three innovative products, covering key areas from prenatal screening to cancer treatment and monitoring.

First, in the field of prenatal screening, Emergen Research reports that the non-invasive genetic testing market is projected to expand continuously at a compound annual growth rate (CAGR) of 26.2% in the coming years, with its size expected to reach USD 22.41 billion by 2027. Among these, non-invasive prenatal testing (NIPT) will dominate, with its market size anticipated to surpass USD 10.5 billion in 2027.

Behind this growth trend, the number of women choosing to prioritize their careers and delay marriage and childbirth continues to rise. Advanced maternal age is associated with increased pregnancy-related complications, driving growing demand for prenatal genetic testing. Meanwhile, the rising incidence of diseases such as cancer and chromosomal abnormalities will further accelerate the rapid development of this niche market.

In July 2019, BillionToOne launched UNITY Screen™. It is the only non-invasive prenatal screening (NIPT) that can assess fetal chromosomal aneuploidy, recessive genetic disorders, and fetal antigen risks from a single maternal blood draw. UNITY Screen™ employs a non-invasive testing method that does not require a paternal blood sample. It utilizes molecular counting technology to quantify minute DNA changes in the blood, offering a broad detection scope that covers not only chromosomal aneuploidies but also recessive genetic disorders and fetal antigens.

Its early detection capabilities facilitate the identification of high-risk pregnancies after 10 weeks of gestation, promote equitable access to healthcare services, and offer significant improvements, particularly for cases that are difficult to detect through traditional carrier screening. According to BillionToOne, UNITY Screen™ has increased the detection rate for high-risk fetuses from 41.5% to 98.5%, significantly improving clinical outcomes.

In addition, BillionToOne has launched two products, Northstar Select™ and Northstar Response™, for the selection of cancer treatment regimens and the monitoring of treatment efficacy, respectively.

Northstar Select™ assists clinicians in determining the most appropriate initial treatment regimen by providing a list of mutations present in tumors, including deletions, insertions, and point mutations. Its technical advantages of extensive genomic coverage and low limit of detection enhance the sensitivity and accuracy of testing. Meanwhile, Northstar Response™ provides longitudinal assessment of cancer burden through methylation evaluation, precisely quantifying changes in tumor burden to offer an accurate assessment of treatment efficacy. Through continuous innovation and clinical validation, BillionToOne has provided testing services to over 500,000 patients, with its annual recurring revenue growing to $125 million within approximately four years.

With the widespread increase in public health awareness, China’s consumer-grade genetic testing market is experiencing unprecedented rapid growth. Statistics show that the market size reached $68.5 million in 2020 and is projected to surge to $445.1 million by 2025, representing a compound annual growth rate (CAGR) of 45.4% during this period. Looking further ahead, the figure is expected to climb to $2.6 billion by 2030, with the CAGR from 2025 to 2030 maintaining a high level of 42.4%.

In this context, it has become an industry consensus to invest in the consumer-grade genetic testing and cancer screening sectors. Among them, Meinian Gene, as one of the largest consumer-grade genetic testing platforms in China, is the only domestic enterprise in this sector that has achieved sustained profitability.

Meiyin Gene has established an extensive product portfolio in the consumer-grade genetic testing sector, covering nearly 100 services such as brain health risk assessment, BRCA1/2 gene testing, comprehensive cancer screening, folate metabolism capacity evaluation, and Parkinson’s disease risk assessment. Notably, its telomere length genetic test, launched in 2022, provides individuals with a novel scientific approach to monitoring aging.

Tumor genetic testing, as a key component of precision medicine, has attracted significant investment from numerous companies in recent years. A wide array of genetic testing products for various cancers—from liver and lung cancer to breast and colorectal cancer—have emerged. For instance, BGI Genomics launched Huachangkang®, a fecal DNA methylation test specifically designed for the early screening, diagnosis, and treatment of colorectal cancer. By employing quantitative fluorescent PCR technology to analyze the DNA methylation status of intestinal epithelial cells in fecal samples, the test enables precise assessment of the risk for colorectal cancer and advanced adenomas.

Leveraging the technical advantages of PCR and NGS, Runan Medicine has prioritized the development of a 12-gene testing product. Given the relatively narrow mutation spectrum of thyroid tumors, this product specifically covers common gene mutations found in 90% of thyroid tumor patients, delivering an efficient and cost-effective testing solution.

However, while companies differ in their technological approaches, the focus of cancer detection remains relatively concentrated, which undoubtedly heightens the risk of homogeneous competition. Meanwhile, early screening products are generally priced high and rely primarily on non-clinical channels, thereby limiting market expansion to some extent.

Taking New Horizon Health as an example, despite its attempt to follow the design pathway of Cologuard and the launch of at-home self-testing products, its growth rate remains sluggish. High unit prices, lack of insurance coverage, and the need for confirmatory colonoscopy collectively constitute barriers to market growth. Furthermore, the unique characteristics of China’s clinical channels make it particularly challenging for companies to secure endorsements from professional hospitals.

In the future, the consumer-grade genetic testing and cancer screening market will exhibit a trend toward high concentration. Given the sector’s characteristics of low average transaction value and high traffic volume, consumers are extremely price-sensitive. Therefore, cost control and scalability will become key competitive factors among enterprises. The common challenge facing all genetic testing companies will be how to effectively reduce costs and expand market scale while maintaining technological innovation.