ACMG

GeneDx to Present Data at the 2024 American College of Medical Genetics (ACMG) Annual Meeting Demonstrating Clinical Superiority of its Exome, Paving the Way for the Future of Genomics

Retrieved on: 
Thursday, March 14, 2024
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STAMFORD, Conn., March 14, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced its scientific contributions at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.

Key Points: 
  • STAMFORD, Conn., March 14, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced its scientific contributions at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.
  • These findings represent improved data quality from pipeline and platform improvements.
  • Through an industry-sponsored session, GeneDx will explore the gap between the availability of the medical genetics workforce and the genetic testing needs of pediatric patients.
  • "We are motivated to continue to push the boundaries of genomics to transform the future of healthcare," said Paul Kruszka, Chief Medical Officer at GeneDx.

Quest Diagnostics and Broad Clinical Labs to Evaluate Whole Genome Sequencing as First-Line Genetic Test for Developmental Delay

Retrieved on: 
Tuesday, April 2, 2024
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SECAUCUS, N.J., April 2, 2024 /PRNewswire/ -- Quest Diagnostics (NYSE: DGX), a leader in diagnostic information services, and Broad Clinical Labs, the world expert in whole genome sequencing (WGS), today announced a research collaboration designed to demonstrate the clinical value of WGS as a first-line genetic test for postnatal diagnosis of developmental delay disorders.

Key Points: 
  • "We are delighted to bring the experience and expertise of Broad Clinical Labs to this innovative collaboration with Quest.
  • "This type of collaboration between commercial laboratories and research institutions is vital to advance the field of genetic testing and increase utility and economic value."
  • While the ACMG recommends WGS for first-line genetic testing for intellectual disability and developmental delay, some providers continue to follow prior guidelines that recommend chromosomal microarray (CMA) as a first-line test.
  • Broad Clinical Labs is a leader in human whole genome sequencing, having sequenced over 600,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease.

Genomenon Presents Study Identifying 11,000 Gene Disease Relationships Across the Clinical Exome at the ACMG Annual Clinical Genetics Meeting

Retrieved on: 
Thursday, March 14, 2024
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ANN ARBOR, Mich., March 14, 2024 /PRNewswire-PRWeb/ -- Genomenon, a leading genomic intelligence company, presented data at the ACMG Annual Clinical Genetics Meeting today demonstrating how computational indexing of millions of published abstracts and full-text references combined with a systematic literature review can be used to rapidly and accurately characterize gene-disease relationships (GDRs) and to resolve variants of uncertain significance (VUS). The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene. Each GDR is accompanied by well-documented scientific evidence curated by Genomenon's team of genetic scientists. Today's presentation shares a milestone in the company's mission to curate the human genome and understand the pathogenicity of any variant for patient diagnosis and precision medicine development.

Key Points: 
  • The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene.
  • This need is underscored by the fact that the number of VUS's is growing exponentially due to increased genetic testing and sequencing.
  • The study used a literature-based approach that     gathered variants through Genomenon's Mastermind Genomic Intelligence Platform and variant databases.
  • The study demonstrated that there is only a 27% match of genetic variants listed in current databases and those found in the literature.

Acclaimed Clinical Geneticist Dr. Bruce Korf Honored with 2024 David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine

Retrieved on: 
Wednesday, March 13, 2024
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BETHESDA, Md., March 13, 2024 /PRNewswire/ -- Renowned clinical geneticist Bruce Korf, MD, PhD, FACMG, has been named the recipient of the 2024 ACMG Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics.

Key Points: 
  • BETHESDA, Md., March 13, 2024 /PRNewswire/ -- Renowned clinical geneticist Bruce Korf, MD, PhD, FACMG, has been named the recipient of the 2024 ACMG Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics.
  • Dr. Korf is an authentic, kind and ethical human being whose life and career in medical genetics are unparalleled."
  • "Dr. Korf's extraordinary accomplishments in clinical genetics, neurofibromatosis, and genomics, as well as his dedication to education make him a well deserving winner of the David Rimoin Lifetime Achievement Award.
  • Before he died, David appreciated the opportunity to work with Bruce first-hand in the editing of Principles and Practice of Medical Genetics as well as on numerous committees for the ACMG.

New Data to be Presented for BioMarin's VOXZOGO® (vosoritide) in Children with Hypochondroplasia and Achondroplasia at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting

Retrieved on: 
Tuesday, March 12, 2024
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SAN RAFAEL, Calif., March 12, 2024 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced that positive early results from an investigator-sponsored Phase 2 study of VOXZOGO® (vosoritide) in children with hypochondroplasia, will be presented at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Toronto, Canada, March 12-16, 2024. Researchers will also present data from Phase 2 and Phase 3 studies of the medicine in children with achondroplasia, including results that demonstrate VOXZOGO's positive impact on quality of life. 

Key Points: 
  • Andrew Dauber, M.D., will present positive results from his investigator-sponsored Phase 2 study of VOXZOGO in children with hypochondroplasia.
  • The annualized growth velocity (AGV) increased from 5.12 cm/year during the observation period to 6.93 cm/year during the treatment period (mean difference: 1.81 cm/year, p
  • In late 2023, BioMarin launched the pivotal clinical trial program studying the safety and efficacy of VOXZOGO in children with hypochondroplasia.
  • "Our studies showed that increasing height with long-term administration of VOXZOGO can result in meaningful improvements in quality-of-life measures for children with achondroplasia."

Bionano Announces Extensive Lineup of Content at American College of Medical Genetics and Genomics (ACMG) Annual Meeting Including Live Product Showcase Featuring the Company’s New Stratys™ System

Retrieved on: 
Thursday, March 7, 2024
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Dr. Tara Spence from Vancouver General Hospital will present insights into her laboratory’s adoption of Stratys and its potential impact on hematological malignancy analysis

Key Points: 
  • Dr. Tara Spence from Vancouver General Hospital will present insights into her laboratory’s adoption of Stratys and its potential impact on hematological malignancy analysis
    A scientific platform presentation will feature Drs.
  • ACMG’s Annual Meeting brings together industry, medical, and academic professionals to discuss advances in clinical genetics research.
  • The ACMG conference will be held March 12-16, 2024, in Toronto, Canada.
  • All scientific posters will be presented in Exhibit Halls DE.

Baylor Genetics to Share Scientific and Clinical Insights on AI, Precision Diagnostics, Carrier Screening and More in 11 Presentations at ACMG 2024

Retrieved on: 
Monday, March 4, 2024
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HOUSTON, March 04, 2024 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, will showcase its latest advancements and research discoveries at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting on March 12-16 in Toronto, Canada.

Key Points: 
  • The presentations shed light on cutting-edge developments in genetic analysis, diagnostic interpretation, and clinical results, underscoring Baylor Genetics’ mission to translate scientific innovation into accessible clinical solutions that improve patient outcomes and advance precision diagnostics.
  • "These presentations reflect our ongoing commitment to advancing the field of genetics and empowering patients, providers, and partners with insights and innovations to transform healthcare and improve lives."
  • Customers and partners interested in attending the breakfast can request an invitation and register here or inquire onsite at the Baylor Genetics booth.
  • Learn more about ACMG’s Annual Clinical Genetics Meeting through the conference website and visit the Baylor Genetics’ website to explore the company’s genetic testing capabilities.

American College of Medical Genetics and Genomics Includes OGM in Latest Edition of Technical Laboratory Standards for Solid Tumor Analysis

Retrieved on: 
Thursday, February 22, 2024
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SAN DIEGO, Feb. 22, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today announced that optical genome mapping (OGM) was included for the first time in the American College of Medical Genetics and Genomics (ACMG) technical laboratory standards documentation for solid tumor analysis.

Key Points: 
  • SAN DIEGO, Feb. 22, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today announced that optical genome mapping (OGM) was included for the first time in the American College of Medical Genetics and Genomics (ACMG) technical laboratory standards documentation for solid tumor analysis.
  • The technical laboratory standards were developed by a working group of laboratory geneticists performing cytogenetic studies.
  • “We are thrilled to see OGM included in the newest section of the ACMG technical laboratory standards for solid tumor studies, which provides a standardized guide for laboratory geneticists who are conducting this cytogenomic analysis.
  • We believe that cytogenomic analysis of solid tumor samples is critically important for clinical research,” added Erik Holmlin, PhD, president and chief executive officer of Bionano.

GeneDx Reports Fourth Quarter and Full Year 2023 Financial Results and Issues Guidance for Full Year 2024

Retrieved on: 
Tuesday, February 20, 2024
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ET

Key Points: 
  • ET
    STAMFORD, Conn., Feb. 20, 2024 (GLOBE NEWSWIRE) -- GeneDx Holdings Corp. (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today reported its financial results for the fourth quarter and full year of 2023.
  • Exome and genome represented 27% of all test results, up from 16% in the fourth quarter of 2022 and up from 23% in the third quarter of 2023.
  • Adjusted gross margin from continuing operations expanded to 56%, up from 41% in the fourth quarter of 2022 and up from 48% in the third quarter of 2023.
  • Excluding one-time items, representative continuing operations cash burn was $23.9 million in the fourth quarter of 2023.

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

Retrieved on: 
Tuesday, March 5, 2024
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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.

Key Points: 
  • 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 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.
  • 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).