NEW YORK (GenomeWeb) – Natera's focus on the average-risk noninvasive prenatal testing space is helping it gain ground in the competitive US market, the company said this week.
In addition, it plans to submit its Panorama Microdeletion NIPT for US Food and Drug Administration clearance following the completion of a 10,000-woman study; and it is developing a liquid biopsy assay.
Natera CEO Matthew Rabinowitz discussed these initiatives during a conference call discussing the company's second quarter earnings.
In Q2, Natera ran 69,000 total tests, and over the last year, ending June 30, Natera ran more than 251,000 total tests, the vast majority of which were Panorama.
The firm cited several keys to gaining market share, including the accuracy of its methodology to detect the microdeletion known as 22q11.2, or DiGeorge syndrome. Panorama amplifies a panel of target SNPs that are then sequenced, as opposed to a counting method used by Sequenom and Illumina. The company also highlighted its efforts to sell the test to the general Ob-Gyn market instead of to maternal fetal medicine specialists.
In the second quarter, the firm launched version 2 of its test, which analyzes 13,392 SNPs — reduced from 19,500 to eliminate uninformative SNPs — and has a sensitivity greater than 99 percent for all disorders and a specificity of 99.9 percent. Steve Chapman, Natera's SVP of commercial operations, said during the call that the upgraded test also enables testing in samples with as little as 2.8 percent fetal DNA, down from a threshold of 3.8 percent fetal fraction. The new version is also expected to reduce the number of times the test requires a second blood draw by 30 percent to 40 percent.
Next year, Natera plans to launch version 3 of Panorama, which will "further improve performance and reduce costs," Chapman said.
Rabinowitz highlighted two features that he said made the Panorama test stand out compared to other NIPTs. First, he noted that the test's accuracy, particularly for fetal sex determination, has been resonating with doctors. Competitors' tests predicted the wrong sex between .5 percent and 1 percent of the time in validation studies, he said, whereas Natera's validation study had no mistakes in gender calls.
If the gender call is wrong, "doctors tend to distrust other results," Rabinowitz said.
Second, Rabinowitz highlighted Panorama's ability to call microdeletions, in particular, the 22q11.2 deletion syndrome, which is the most common and can cause retardation, schizophrenia, and other disorders, he said. It has a three-fold higher incidence than cystic fibrosis. Panorama's test has a published sensitivity of greater than 95 percent for that deletion. By contrast, Sequenom does not report sensitivity for specific microdeletions, but instead for different size ranges. It notes that for deletions between 3 mb and 6 mb in size, sensitivity is 60 percent to 85 percent, and for deletions smaller than 3 mb, sensitivity is variable. The 22q11.2 deletion is between 1.5 mb and 3 mb.
In part because of Natera's accuracy in screening for the 22q11.2 deletion, and because the deletion is relatively prevalent, the firm launched its SNP-based Microdeletion and Aneuploidy Registry (SMART) study to assess Panorama's ability to screen for the microdeletion in the general population. It expects to submit data from the 10,000-woman cohort study to the FDA to support potential clearance of the test.
In Q2 Natera also achieved the CE mark for its reagent kit, which will allow international laboratory partners to run Panorama locally. Natera is also marketing cloud-based software called Constellation, to enable labs to use its proprietary algorithms to run Panorama locally, Chapman said.
Natera recently launched version 2 of its carrier screening test, Horizon, which screens for up to 274 conditions. Rabinowitz said that physicians can order Horizon and Panorama, including the microdeletions panel, for their patients and all the tests can be run from the same blood draw.
By the end of the year, Natera expects to be in-network with a number of payors. Rabinowitz said recent decisions by a number of payors, including Anthem Blue Cross Blue Shield, to change their policies to deem NIPT medically necessary regardless of risk status, would be a boon for the company.
"We made a substantial bet on the low-risk market," Rabinowitz said, and "with these plans now covering, we expect others will follow."
In the oncology space, Rabinowitz said that Natera is designing a liquid biopsy assay that will detect both copy number variants and SNVs in breast, ovarian, and lung cancer. "Initially, we are developing these tests as reflex tests after a nodule has been detected, or for disease load and recurrence monitoring once cancer has been diagnosed," Rabinowitz said. "But ultimately, we expect these tests to be offered for early detection of cancer."
Already, Rabinowitz said, the company is collaborating with a number of cancer centers, including ones at the Feinstein Institute, Stanford, the University of Pittsburgh, Johns Hopkins, Columbia University, Vanderbilt, and Cancer Research UK. To further enable collaboration, Rabinowitz said that Natera developed "an automated tool for assay design" that it offers as a service to researchers and CLIA-certified laboratories, and that allows them to design their own oncology assays, perform their own studies, and analyze data using Constellation.