BillionToOne’s non-invasive prenatal blood test, which helps diagnose hereditary and rare diseases in fetuses, is now available in Germany, Austria, Switzerland, and the Netherlands, the company announced. The test, which was previously only available in the United States, will be commercialized by Eluthia in these four European countries.
Called UNITY, the test requires only a small sample of the mother’s blood to determine whether the baby will be at high risk for developing spinal muscular atrophy (SMA) and other single-gene disorders like cystic fibrosis, sickle cell disease and thalassemias (inherited blood disorders).
“We are delighted to launch UNITY™ test in Central Europe, to make this important tool available outside the US for the first time,” Oguzhan Atay, founder and CEO of BillionToOne, said in a press release.
“With Eluthia’s genetic testing and regulatory experience and their extensive physician network in Central Europe, we are confident that the UNITY test will dramatically improve the standard of prenatal care in Europe,” he added.
SMA is an autosomal recessive disorder, caused by mutations in the SMN1 gene. This means that for children to develop the disease, they must inherit a copy of a mutated gene from both the mother and the father.
A carrier is an individual who has only one mutated copy of the particular gene, and often will not show disease symptoms. Carriers have a 50% chance of passing the mutant copy to their children. When both parents are carriers, the child therefore has a 25% chance of developing spinal muscular atrophy.
Only a small sample of the mother’s blood is required for the UNITY test. First, the test determines whether or not the mother is a carrier for the disease. If the mother is a carrier, then the fetal DNA — which is found at very low levels in the mother’s blood — is screened for the disease genes.
The detection rate for the UNITY prenatal blood test is between 90% and greater than 99%, which exceeds the gold-standard threshold for carrier screening of SMA.
Previous clinical trials have shown that the screening of the fetal blood is 100% accurate. That test uses a new technique called Quantitative Counting Template Method that allows the accurate quantification and counting of DNA molecules.
The UNITY screening process also is much faster than traditional carrier screening, taking up to two weeks rather than 12 weeks.
“We are honored to partner with BillionToOne to offer their paradigm-changing UNITY test in Europe,” said Ramón Enríquez Schaefer, the CEO of Eluthia.
“The possibility to prenatally screen for these medically highly relevant diseases for the first time will have a huge impact not only allowing pregnant women to make informed decisions on the course of their pregnancy but in particular, it will allow the efficient implementation of new therapy options,” he added.