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

Rhea-AI Summary

Invitae introduces Invitae Generation™, a high-quality variant detection and classification platform, at the 2024 ACMG Annual Clinical Genetics Meeting. The platform showcases the company's commitment to innovation and excellence in genetic variant testing.

Insights

Genetic Research Analyst

The unveiling of Invitae Generation™ represents a significant advancement in genetic testing, particularly in the domain of variant detection and classification. This platform's integration of advanced artificial intelligence models with a substantial genetics database is poised to enhance the precision of genetic diagnoses. Such accuracy is crucial in the field of personalized medicine, where treatments and preventive measures are increasingly tailored to an individual's genetic makeup.

From a research perspective, the stability of variant classifications over time, as highlighted by the Invitae study, is a testament to the robustness of their systematic framework. A stability rate exceeding 99% for most classifications suggests a high level of reliability in their testing protocols, which is paramount for both clinicians and patients relying on these results for medical decision-making.

The use of gene-specific machine learning models is particularly noteworthy. These models can analyze large genomic datasets to predict pathogenicity, which is a complex and traditionally time-consuming process. The accelerated reclassification of variants of uncertain significance (VUS) could potentially reduce the number of individuals left with inconclusive results, thereby enhancing patient care and informing treatment options more rapidly.

Medical Technology Market Analyst

Invitae's announcement at the ACMG Annual Clinical Genetics Meeting could have substantial implications for the medical genetics market. The introduction of Invitae Generation™ may position Invitae as a frontrunner in the genetic testing industry, potentially influencing the company's market share and competitive edge.

The demand for genetic testing is growing, driven by advancements in personalized medicine and an increased understanding of genetic diseases. Invitae's platform, with its high-quality variant detection and classification capabilities, may attract partnerships with healthcare providers and research institutions, potentially leading to an increase in revenue streams.

Investors should monitor the adoption rate of Invitae Generation™ post-launch, as it could serve as an indicator of the platform's market viability. Additionally, the company's ability to maintain a high classification stability rate and accelerate VUS reclassifications through AI could lead to operational efficiencies and cost savings, which are critical factors in the long-term financial health of the company.

Healthcare Policy Expert

The advancements presented by Invitae have implications beyond the immediate business impact; they also touch on healthcare policy and the regulatory environment. The consistency and quality of genetic testing are subjects of ongoing regulatory scrutiny and platforms like Invitae Generation™ could set new benchmarks for industry standards.

Healthcare policies may need to evolve to keep pace with such technological advancements, particularly in regard to data privacy, given the extensive use of genetic databases. Moreover, the high stability of variant classifications could influence policy decisions related to the coverage and reimbursement of genetic tests, potentially making them more accessible to patients.

The role of AI in genetic testing also raises questions about the oversight of automated decision-making in healthcare. As such technologies become more prevalent, regulatory agencies may need to establish frameworks to ensure the accuracy and ethical use of AI in patient care.

– 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.

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 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 invitae.com 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 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.

Contact:
Renee Kelley
pr@invitae.com 

 

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SOURCE Invitae Corporation

FAQ

What is Invitae Generation™?

Invitae Generation™ is a variant detection and classification platform developed by Invitae, a leading medical genetics company.

Where will Invitae showcase their work?

Invitae will showcase their work at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Toronto, Canada.

Who will present a platform presentation at the meeting?

Britt Johnson, Ph.D., FACMG, senior medical affairs director at Invitae, will present a platform presentation on variant reclassification at the ACMG meeting.

What did the study on variant reclassification show?

The study showed that over 99% of benign, pathogenic, and likely benign classifications remained stable over an 8.5 year period, meeting ACMG/AMP guidelines.