Invitae to Present Data at the 2024 ACMG Annual Clinical Genetics Meeting


– Announcing Invitae Generation™, a high-quality variant detection and classification platform –

SAN FRANCISCO, March 5, 2024 /PRNewswire/ -- Researchers from Invitae (OTC: NVTA), a leading medical genetics company, are showcasing their work next week at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Toronto, Canada from March 12-16. The meeting's clinical agenda will include presentations on both research and clinical topics that promote the science and practice of clinical genetics and genomics.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. (PRNewsFoto/Invitae Corporation)

The company will also announce Invitae Generation™, a high-quality variant detection and classification platform. Invitae Generation involves a team of scientific experts who thoughtfully develop, evolve and work hand-in-hand with our state-of-the-art technology platforms, systematic framework and massive genetics database to classify unique genetic variants – helping to give definitive answers to patients.

"The ACMG Annual Clinical Genetics Meeting is an incredible opportunity for our researchers and collaborators to highlight ongoing scientific advancements to support genetics-informed patient care," said W. Michael Korn, M.D., chief medical officer at Invitae. "This includes our commitment to continued innovation in classifying unique genetic variants through utilizing advanced AI models as part of Invitae Generation."

The company's research presentations, which include a platform presentation and several posters, highlight the company's commitment to and excellence in variant detection and classification while providing quality testing for patients.

Accurate and consistent DNA variant classification is a fundamental requirement in germline genetic testing and involves a systematic process for evaluating available evidence to determine the pathogenicity of variants. Britt Johnson, Ph.D., FACMG, senior medical affairs director at Invitae, will present a platform presentation – The Landscape of Variant Reclassification: Learnings from over 2 million Classified Variants in over 3.6 Million Individuals – on Thursday, March 14 at 11:45 a.m. ET. This study assessed the stability of variant classifications over time, the directional pattern of reclassifications and the evidence sources that contributed to reclassifications in a cohort of >3.6 million individuals undergoing clinical genetic testing for a wide range of conditions.

Analysis of > 2 million clinically classified variants showed that more than 99% of benign, pathogenic, and likely benign classification and >96% of likely pathogenic classifications remained stable over an 8.5 year period, exceeding the confidence thresholds set by ACMG/AMP guidelines. Gene-specific machine learning-based predictive models, which were developed and validated using large genomic datasets, contributed to over half of all reclassifications and accelerated variants of uncertain significance (VUS) reclassifications overall.

Invitae plans to present posters (P164 and P073) about Lynch syndrome and VUS in mismatch repair (MMR) genes and multiplex assays of variant effects (MAVEs). In addition, the company will present findings (P22) in variant interpretation that led to variant reclassification and a clinically significant genetic result for cardiomyopathy and/or arrhythmia and neuromuscular cases with truncating TTN variants (TTNtv).

Full presentation schedule

Invitae continues to demonstrate scientific innovation and excellence as supported by the number of accepted presentations and posters.

Platform presentation

  • O31. The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals. | Britt Johnson, Ph.D., FACMG, Invitae | Thursday, March 14, at 11:45 a.m. ET

Poster presentations

Thursday, March 14

  • P067. A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing. | Lindsay Fosler, M.S., CGC, Invitae | 10:30 a.m. - 12 p.m. ET | Also chosen for rapid fire poster session 12 p.m. - 12:30 p.m. ET
  • P071. Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories. | Daniel Pineda-Alvarez, M.D., FACMG, Invitae | 10:30 a.m. - 12 p.m. ET
  • P073. Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification. | David Stafford, Ph.D., Invitae | 10:30 a.m. - 12 p.m. ET
  • P471. Uptake of a chatbot for disclosure of germline genetic test results through a universal genetic testing program. | Elyssa Zukin, M.S., CGC, City of Hope | 10:30 a.m. - 12 p.m. ET
  • P493. The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening. | Leslie Burnett, M.B.B.S., Ph.D., FRCPA, FHGSA, Garvan Institute of Medical Research | 10:30 a.m. - 12 p.m. ET
  • P633. Clinical and genetic findings of >3,900 individuals tested via the navigateAPDS sponsored genetic testing program. | Heather McLaughlin, Ph.D., FACMG, Pharming Healthcare, Inc. | 10:30 a.m. - 12 p.m. ET
  • P685. Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories. | Christopher Tan, M.S. CGC, Invitae | 10:30 a.m. - 12 p.m. ET
  • P757. Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening. | Dana Neitzel, M.S., CGC, Invitae | 10:30 a.m. - 12 p.m. ET

Friday, March 15

  • PO30. Diverse Genetic Findings, Clinical Signs, and Newborn Screening History from a Long-Chain Fatty Acid Oxidation Disorders Gene Panel Sponsored Program. | Nicole Miller, Ph.D., Ultragenyx Pharmaceutical, Inc. | 10:30 a.m. - 12 p.m. ET
  • PO32. Decoding the Genetic Tapestry of Long Chain Fatty Acid Oxidation Disorders: Unveiling Novel Insights with a Dynamic Locus-Specific Gene Database. | Vanessa Rangel Miller, M.S., M.B.A., CGC, Ultragenyx Pharmaceutical, Inc. | 10:30 a.m. - 12 p.m. ET
  • P164. Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing. | Toby Manders, M.D., Invitae | 10:30 a.m. - 12 p.m. ET
  • P222. TTN truncating variants are enriched in cardiomyopathy/arrhythmia and neuromuscular cases and M-band exon 358 contributes to primary cardiomyopathy/arrhythmia. | Matteo Vatta, Ph.D., FACMG, Invitae | 10:30 a.m. - 12 p.m. ET
  • P572. Repeated exome reanalysis is most impactful after two years and the majority of new findings are in neurodevelopmental genes. | Yi-Lee Ting, M.S., CGC, Invitae | 10:30 a.m. - 12 p.m. ET

About InvitaeInvitae (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 StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's plans to present its research and data; and the company's plans to announce its variant detection and classification platform. 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: the company's ability to grow its business in a cost-efficient manner; the company's history of losses; the company's ability to maintain important customer relationships; the company's ability to compete; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the applicability of clinical results to actual outcomes; 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.



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