BillionToOne Announces New Clinical Outcomes Data Showing High Sensitivity of UNITY Screen™ to Detect Pregnancies at Risk for Recessive Conditions

MENLO PARK, Calif., Dec. 6, 2022 /PRNewswire/ -- New clinical outcomes data^[1] show the ability of  UNITY Screen™ to accurately identify pregnancies at risk for recessively inherited genetic conditions. The data show that the single-gene non-invasive prenatal test (NIPT) included in UNITY Screen provides an accurate, informative, and personalized risk assessment for the fetus to be affected with recessive conditions such as cystic fibrosis, sickle cell disease, thalassemias, and spinal muscular atrophy.  UNITY Screen is the only commercially available NIPT for these conditions in the United States and is offered by BillionToOne, Inc., a next-generation molecular diagnostics company. The results were published in Genetics in Medicine, an official journal of American College of Medical Genetics and Genomics (ACMG).

In this study, researchers evaluated UNITY Screen's clinical performance, which combines maternal carrier screening with single-gene NIPT only from a maternal sample vs. traditional carrier screening, in which both parents are sequentially screened to identify high-risk couples.  UNITY Screen's single-gene NIPT demonstrated a 93.3% sensitivity, with 14 out of 15 affected fetuses reported as high risk. The study cohort included 9,151 pregnant individuals from 30 states and 240 clinics with 191 positive carrier results that had newborn outcomes. In addition, UNITY Screen demonstrated a negative predictive value (NPV) of 99.4%, indicating that low risk single-gene NIPT results can be used to streamline screening workflows without the need for a paternal sample.

While traditional carrier screening provides patients with an understanding of their carrier status, a number of factors can cause traditional carrier screening to be ineffective. In particular, late presentation to prenatal care and low uptake of paternal carrier screening when indicated (<50%) can result in more than half of affected pregnancies to be missed in the US^[2]. Moreover, these circumstances are more common among individuals who are younger, have lower educational levels, and identify as minorities. As a result, traditional carrier screening may contribute to healthcare disparities^{[3] [4] [5]}.

Oguzhan Atay, PhD, co-founder and CEO of BillionToOne added, "We're excited to see our revolutionary Quantitative Counting Templates (QCT) setting the stage for better assessment of fetal risk for these important genetic conditions. These results indicate that the real-world sensitivity of UNITY Screen is estimated to be more than 2x higher compared to traditional carrier screening. We believe that UNITY Screen will lead to more equitable care for pregnant individuals across the United States."

BillionToOne will hold two live webinars for clinicians to discuss this new outcomes data and their new red blood cell fetal antigen NIPT. Clinicians are welcome to register for the webinar on Dec 7 at 9:00 AM Pacific/12:00 PM Eastern or Dec 8 at 5:00 PM Pacific/8:00 PM Eastern.

Read the full study here.

Visit unityscreen.com.

Visit billiontoone.com.

BillionToOne, headquartered in Menlo Park, California, is a molecular diagnostics company with a mission to make molecular diagnostics more accurate, efficient, and accessible for all. The company's Quantitative Counting Templates™ , QCTs, enable the quantification of DNA molecules at the single-count level with single base-pair precision. BillionToOne was co-founded by Oguzhan Atay, Ph.D. and David Tsao, Ph.D.

UNITY Screen, developed by BillionToOne, Inc., is a unique prenatal test that includes a carrier screen and fetal risk assessment for aneuploidies, recessive conditions, and red blood cell antigens. UNITY Screen provides informative genetic information about the fetus at 10 or more weeks gestation, is non-invasive, and does not require a partner sample at any point in the process to provide a fetal risk. It is the only commercially available NIPT in the United States that assesses fetal risk for recessive conditions and fetal antigens.

^[1] Jennifer Hoskovec, Emily E. Hardisty, Asha N. Talati, Jacqueline A. Carozza, Julia Wynn, Shan Riku, John R. ten Bosch, Neeta L. Vora. Maternal carrier screening with single-gene NIPT provides accurate fetal risk assessments for recessive conditions. Genetics in Medicine, 2022, ISSN 1098-3600, https://doi.org/10.1016 j.gim.2022.10.014

^[2] Giles Choates M, Stevens BK, Wagner C, Murphy L, Singletary CN, Wittman AT. It takes two: uptake of carrier screening among male reproductive partners. Prenat Diagn. 2020;40(3):311-316. doi:10.1002/pd.5588

^[3] Finer, L.B., and M.R. Zolna. 2016. "Declines in Unintended Pregnancy in the United States." N Engl J Med 374 (9): 843-852. doi:10.1056/NEJMSA1506575.

^[4] Koops, J. C., A. C. Liefbroer, and A. H. Gauthier. n.d. "Socio-Economic Differences in the Prevalence of Single Motherhood in North America and Europe." European Journal of Population, no. 37, 825-849. doi:10.1007/s1068-021-09591-3.

^[5] Aztlon-Jomes EA, Mclemore M, Taylor D. Multiple Unintended Pregnancies in U.S. Women: A Systematic Review. Women's Health Issues. 2017;27(4):407-413. doi:10.1016/J.WHl.2017.02.002

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SOURCE BillionToOne