SMART Study Data for Aneuploidy and 22q Unblinded
Natera extends NIPT technology leadership with new Panorama® artificial intelligence platform
Natera, Inc., a pioneer and leader in cell-free DNA testing, announced 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.
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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.
“22q 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.”
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“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.
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