MENLO PARK, Calif., Oct. 8, 2019 /PRNewswire/ -- BillionToOne, a venture-backed precision diagnostics company, today announced that its peer-reviewed analytical and clinical validation study was published in Nature Group's Scientific Reports journal. Powered by BillionToOne's patent-pending Quantitative Counting Template (QCT) molecular counting technology, UNITY is the only prenatal screen that tests cell-free fetal DNA for cystic fibrosis, spinal muscular atrophy (SMA) and sickle cell disease using just one tube of blood from the mother. It is currently offered at selected clinics in the United States through Early Access Program as well as in selected countries, including Germany, Austria, and the Netherlands.
The study is the first technical publication on its patent-pending QCT molecular counting method. With synthesized DNA molecules, the team demonstrated that the QCT molecular counter can accurately count single molecules enabling ultra-rare variant calls for liquid biopsy and single-gene NIPT for recessively inherited genetic disorders. QCT method is also able to quantify sample cross-contamination on a per-sample basis. When the team used QCT molecular counting to develop sgNIPTs for sickle cell disease, cystic fibrosis, spinal muscular atrophy, and thalassemias on up to 1,000 pre-clinical samples, >98% analytical sensitivity and >99% analytical specificity were achieved.
Further, the single-gene NIPT was validated with clinical samples collected from women with singleton pregnancy. For both maternal recessive inheritance (homozygous inheritance from maternal and paternal side) and paternal inheritance (compound heterozygous inheritance), QCT-enabled single-gene NIPT call matched with the newborn screening results for 100% of the calls.
"BillionToOne's molecular counter improves the resolution of cell-free DNA testing over a 1000-fold compared to traditional NIPT methods," said Dr. Oguzhan Atay, CEO and Co-Founder of BillionToOne. "We are excited to publish our detailed methodology and results that showcase accurate single-gene NIPT calls that underlie UNITY."
"QCT molecular counting platform has the potential to serve a wide range of unmet clinical needs from single-gene NIPT to copy number variations in liquid biopsies," said Dr. David Tsao, CTO and Co-Founder of BillionToOne and the first author on the publication. "With UNITY, we are able to screen for most common genetic disorders directly in the baby from maternal blood alone."
The American College of Obstetricians and Gynecologists (ACOG) recommends that every pregnant woman be screened for her carrier status for cystic fibrosis, SMA, sickle cell disease and thalassemias. While 10 to 15 percent of women test positive as a carrier for these conditions, more than 95 percent of these women will deliver a healthy baby. To confirm that her baby is healthy, however, the mother has to go through the extra step of testing the father's DNA. In many cases, the biological father may not be available, willing, or able to get screened, leaving the mother with uncertainty about her child's health status and resulting in missed diagnoses of genetic disorders. Given that 40 percent of babies are born to single mothers, the current carrier screening process is failing when it comes to genetic testing and identifying high-risk pregnancies.
UNITY addresses the many challenges of traditional prenatal screening. It is the first carrier screening with reflex noninvasive prenatal testing for all ACOG-recommended disorders, meaning that once the mother is found to be a carrier, her blood is also analyzed to determine if her baby is at high risk for being affected by the genetic disorder. The entire UNITY screening process takes 5 to 10 days, compared to up to 12 weeks or more for traditional carrier screening—saving time and money for parents and reducing workflow for clinicians.
BillionToOne is also improving accessibility to next-generation prenatal testing by billing UNITY through existing insurance codes for carrier testing, which are reimbursable by most insurance providers, including Medicaid. BillionToOne operates a CLIA-certified high-complexity laboratory in Menlo Park, California, where all the samples will be processed. To learn more about UNITY and the Early Access Program, visit www.unityscreen.com.