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March 12, 2024

Invitae Launches Update to Invitae Generation™: Clinical Variant Modeling Improves Variant Classification

– An Invitae-developed innovative approach to help reduce variants of uncertain significance –

SAN FRANCISCO, March 12, 2024 /PRNewswire/ -- Invitae (OTC: NVTA), a leading medical genetics company, today announced the launch of an update to Invitae Generation™ with Clinical Variant Modeling, a novel machine learning approach designed to aid clinical interpretation of genetic testing results and increase the rate of definitive answers for patients. The first of its kind, developed by a multidisciplinary team of computational biologists, machine learning engineers, clinical experts and geneticists, Clinical Variant Modeling methodically leverages clinical information received at the time of testing to improve variant classification and reduce variants of uncertain significance (VUS). This new method represents the latest update to Invitae Generation, the company's state-of-the-art platform that unifies evidence generation and systematic variant classification. This innovation greatly reduces uncertainty for patients and increases the actionability of genetic testing.

Clinical Variant Modeling was developed by leveraging Invitae's vast database of information on more than 4 million patients, including over 2 million analyzed DNA variants, and more than 100 million words of clinical descriptions. With this initial launch, it is estimated that nearly 45,000  patients will receive updated reports with more definitive answers as a result of reclassifying previous uncertain results for 11 genetic disorders associated with 17 genes.

"Invitae is the only clinical lab utilizing this type of evidence-based and clinically validated computational approach to reducing VUS in hereditary disease genetic testing," said W. Michael Korn, M.D., chief medical officer at Invitae. "Our vast experience in variant interpretation science and repository of clinical and molecular data enables us to utilize artificial intelligence approaches to innovate in ways that further deliver on our commitment to helping patients."

The initial launch of Clinical Variant Modeling at Invitae specifically includes a model for genes associated with Lynch syndrome, the most common cause of hereditary colorectal cancer1. This modeling was developed from Invitae's database of more than 2 million patients for whom complete DNA sequence and copy number variant information has been generated across all known Lynch syndrome associated genes.

"We estimate that 18,000 patients who were tested at Invitae for Lynch syndrome genes will receive VUS reclassifications, resulting in a 24% VUS reduction for these genes alone," said Keith Nykamp, Ph.D., scientific director at Invitae and leader of this effort. "Importantly, by resolving these VUS, we are now able to deliver more actionable results with faster turnaround times and reduced costs."

"We anticipate that Invitae's unrelenting focus on developing evidence-based methods to reduce VUS will increase confidence among referring clinicians to use our genetic testing broadly and efficiently. As a result, more patients can benefit from using genomic information to inform their healthcare," said Dr. Korn.

About Invitae
Invitae (OTC: NVTA) is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae's genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people.

To learn more, visit and follow for updates on LinkedIn, X, Instagram, and Facebook @Invitae.

Safe Harbor Statement
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the features and expected benefits of the company's products and services, including the estimated number of patients that will receive VUS reclassifications and the benefits related thereto.  Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: risks and uncertainties regarding the company's ability to successfully consummate and complete a plan of reorganization under Chapter 11; the company's ability to continue operating in the ordinary course while the Chapter 11 cases are pending; potential adverse effects of the Chapter 11 cases on the company's business, financial condition, liquidity and results of operations; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; risks associated with litigation; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2023. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Renee Kelley
(628) 213-3283

1 Centers for Disease Control and Prevention (CDC), U.S. Department of Health & Human Services, Hereditary Colorectal Cancer, Lynch Syndrome, last reviewed May 3, 2023.


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