The diagnostics company BillionToOne has launched its first product for commercial and clinical use — a blood test designed to help diagnose hereditary diseases in fetuses.
The new product, called UNITY, tests cell-free fetal DNA to aid in the diagnosis of cystic fibrosis (CF), spinal muscular atrophy, sickle cell disease, and thalassemias, all of which are medical conditions recommended for testing by the American College of Obstetricians and Gynecologists (ACOG).
Generally, screening for these conditions has been done by testing the biological parents to see whether they are carriers of mutations causing the diseases. However, this method is imperfect for several reasons. It doesn’t actually look at the genetic code of the fetus; additionally, genetic testing of both biological parents is not always feasible when babies are born to single parents and the other parent may be unavailable or unwilling to undergo such tests.
Furthermore, testing just the genetics of the mother can give some sense of the risk of these conditions, but often the risk is overestimated — 11% of the women who become pregnant test positive as carriers of one of the four aforementioned conditions, according to the company, but of these people, most (95%) of their babies will not have the disease. This ends up causing stress for the parent, and taking up valuable healthcare resources.
UNITY hopes to address this issue by testing fetal DNA that can be found, at very low levels, in the blood of the mother. Specifically, it uses “reflex noninvasive prenatal testing” — a pregnant woman will be screened to determine whether she is a carrier, and if so, a blood sample will then be “reflexively” collected for further testing of the fetal DNA.
One study showed that this technology was accurate at identifying whether these diseases were present in 100% of the 208 cases tested.
UNITY will be made available at select clinics through BillionToOne’s Early Access Program, with plans for a broader launch late this year.
“We’re extremely excited about the commercial launch of UNITY, which will make the existing carrier screening process 10 times more accurate and efficient,” Oguzhan Atay, chief executive officer and co-founder of BillionToOne, said in a press release.
According to the company, the UNITY screening process takes up to two weeks, in comparison to 12 weeks or more for traditional carrier screening.
“Making UNITY available through our Early Access Program will be the first step in ensuring that all mothers have access to the information they need to help them better prepare for a safe and healthy pregnancy,” Atay said.