As the fetus develops, a small number of fetal cells dies, and their DNA molecules enter into the maternal bloodstream. BillionToOne has developed an accurate molecular counter that takes advantage of the freely circulating fetal DNA to determine whether the fetus has genetic disorders. Our focus on quantitative biology and statistical learning methods allows us to optimize for signal-to-noise ratio, thereby decreasing sequencing costs and making it possible to detect even single-gene disorders. Thus, only our novel technology can accurately detect disorders such as cystic fibrosis, sickle-cell anemia, and thalassemia through a simple blood test. Thalassemia is an endemic problem in many developing countries including India, where it is seen in ~3% of all births.
Amniocentesis is the standard across the world for prenatal diagnostics, yet it is an extremely invasive procedure, in which a long needle is inserted into the womb to extract fetal cells from the amniotic fluid. It carries a 0.5 to 1% miscarriage risk. Because of the risk involved, it is only done in cases in which there is already a suspicion of genetic disorder in the baby. Instead, BillionToOne has developed a non-invasive alternative that is both useful for everyone and affordable for the majority of the world.