Natera Touts Panorama AI Platform
September 8, 2020
noted the unblinding of the SMART clinical trial data, and the
validation of an artificial intelligence-based (AI) platform as
part of its Panorama non-invasive prenatal test (NIPT).
Panorama with AI uses deep neural networks and learns from over
2 million cell-free DNA tests that Natera has processed in order
to further improve on its market-leading accuracy for common
aneuploidies and microdeletions. The historical performance of
Panorama and its performance using the new algorithm were tested
prospectively in the multi-site SMART (SNP-based Microdeletion
and Aneuploidy Registry Trial) study.
Both aneuploidy and microdeletion calls were compared to fetal
or infant genetic outcomes evaluated with karyotype or
chromosomal microarray on all of the more than 18,000 patients
included. Unlike aneuploidies, the prevalence of microdeletions,
including the most common 22q.11.2 deletion, and their detection
by NIPTs have not been studied extensively. Further, published
evidence shows important differences in performance for
aneuploidies and microdeletions, between SNP and counting-based
NIPTs. Panorama with AI improves on Natera's market-leading
performance and is designed to detect even smaller sizes of
microdeletions than previously possible.
deletion syndrome is the most common microdeletion syndrome with
an incidence comparable to cystic fibrosis and spinal muscular
atrophy, which are commonly screened," said Paul Billings M.D.,
Ph.D., Natera's Chief Medical Officer. "Current tools to
diagnose the condition are insufficient, especially in
non-cardiac cases. Children diagnosed with 22q deletion syndrome
need to be delivered in a tertiary care facility, where early
intervention can profoundly impact outcomes."
"We very much look forward to sharing the results from SMART
related to the prevalence of 22q deletion syndrome in the
general population, the performance of the SNP-based NIPT in the
historical registry study, and the performance of Panorama with
AI," said Steve Chapman, Natera's CEO. "We believe the
collective evidence generated from this study will inform
professional societies and commercial payers to support
screening for 22q deletion syndrome for all pregnancies,
regardless of maternal age, and support the recent ACOG
guidelines for chromosomal aneuploidies."
In the second quarter of this year alone, Natera performed over
105,000 22q deletion syndrome tests. Given the previously
announced favorable pricing from CMS and the large volume of
testing already performed, positive payer coverage could result
in significant upside for Natera.