Natera Moves Beyond Chromosomal Aneuploidy to Screen Noninvasively for De Novo Single Gene Mutations

SAN FRANCISCO (GenomeWeb) – Natera said this week that it is developing a new noninvasive prenatal test that will look for de novo mutations in single-gene disorders. The firm is collaborating with Baylor Genetics to develop the test, which it calls Vistara.

During a conference call discussing the firm’s first quarter results, CEO Matt Rabinowitz said that Vistara, along with its recently launched cord blood collection service Evercord, would add to the firm’s suite of women’s health products.

Meanwhile, progress on the reimbursement front continues to be steady, if slow, and Natera is also readying its circulating tumor DNA assay for launch, first in the research market later this year and for clinical testing next year.

Reproductive health

The noninvasive sequencing-based Vistara test will analyze 30 genes associated with disorders such as Rett syndrome and other severe skeletal, cardiac, and neurological conditions. Mutations in such genes often occur de novo so cannot be detected with carrier screening and incidences are higher with advanced paternal age. The conditions are often “undetected until after birth and into childhood,” Rabinowitz said. The screened disorders have a combined incidence of 1 in 600 pregnancies, higher than Down syndrome and cystic fibrosis, he added.

Initially,

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