NSGC

GeneDx Presents New Data at the American Epilepsy Society Annual Meeting Demonstrating That Exome Sequencing Outperforms Multi-Gene Panels for Patients with Epilepsy

Retrieved on: 
Friday, December 1, 2023
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The gap in diagnosis between exome sequencing and the multi-gene epilepsy panels can be largely attributed to the fact that more than half (57%) of seizure-related genes are not included on many commercially available epilepsy panels.

Key Points: 
  • The gap in diagnosis between exome sequencing and the multi-gene epilepsy panels can be largely attributed to the fact that more than half (57%) of seizure-related genes are not included on many commercially available epilepsy panels.
  • Of those patients with a positive genetic diagnosis from exome sequencing, 11% had a variant in a treatment related gene.
  • GeneDx will also present data at the conference that shows insurance may offer better coverage for exome sequencing than multi-gene panels for patients with epilepsy.
  • At the conference, GeneDx will also be hosting an industry sponsored symposium discussing the ways in which exome sequencing can help epilepsy patients find answers sooner.

Invitae to Present Data at the National Society of Genetic Counselors 42nd Annual Conference That Supports Advancements in Medical Genomics

Retrieved on: 
Tuesday, October 10, 2023
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SAN FRANCISCO, Oct. 10, 2023 /PRNewswire/ -- Researchers from Invitae (NYSE: NVTA), a leading medical genetics company, are showcasing their work next week at the National Society of Genetic Counselors (NSGC) 42nd Annual Conference in Chicago that highlights the importance of genetics-informed patient care. In addition to its research presentations, the company will present the Heart of Genetic Counseling Award which recognizes excellence in the field of genetic counseling.

Key Points: 
  • In addition to its research presentations, the company will present the Heart of Genetic Counseling Award which recognizes excellence in the field of genetic counseling.
  • "The NSGC Annual Conference is a great opportunity for Invitae researchers to share cutting-edge scientific advancements with genetic counselors who play an integral role in genetics-informed patient care," said Robert Nussbaum, M.D., chief medical officer at Invitae.
  • Invitae joins NSGC in presenting the Heart of Genetic Counseling Award – honoring excellence in genetic counseling and patient care as recognized by patients.
  • To learn more about Invitae's presence at the NSGC 42nd Annual Conference or the Heart of Genetic Counseling Award, visit our website .

GeneDx Announces Data Demonstrating that Whole Exome and Genome Sequencing Report Fewer Variants of Uncertain Significance (VUS) than Multi-Gene Panel Testing Published in Genetics in Medicine

Retrieved on: 
Monday, August 21, 2023
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The study, “ The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change ,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance (VUS), reported with multi-gene panels versus exome and genome sequencing.

Key Points: 
  • The study, “ The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change ,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance (VUS), reported with multi-gene panels versus exome and genome sequencing.
  • Study findings concluded that VUS are reported more frequently on multi-gene panels (32.6%) than exome and genome sequencing (22.5%).
  • Exome and genome sequencing tests demonstrated lower rates of reported VUS compared to multi-gene panel tests.
  • Importantly, the study found:
    Data from this study was previously presented at the American Society of Human Genetics (ASHG) 2022 Annual meeting.

Labroots Hosts its 11th Annual Genetics Week Online Event, on May 16-18, 2023

Retrieved on: 
Thursday, May 11, 2023
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YORBA LINDA, Calif., May 11, 2023 /PRNewswire-PRWeb/ -- Labroots, the leading scientific social networking website, offering premier interactive virtual events and webinars, today announced its 11th annual Genetics Week virtual event scheduled on May 16-18, 2023. This premier scientific conference focused on advancing the frontiers of science through cutting-edge research and presented by a diverse range of leading experts from academia and institutions promises to showcase the latest developments in the fields of Genetics and Genomics, Precision Medicine and Molecular Diagnostics.

Key Points: 
  • Thousands of conference attendees will be intrigued to learn more about health outcomes, novel therapies and advancements in health systems and personalized medicine today.
  • Day three concludes the Genetics Week event bringing even more thought-provoking discussions relevant to the discipline of molecular diagnostics.
  • Produced on Labroots' comprehensive platform, while connecting across all desktop and mobile devices, the interactive environment provides an immersive educational experience.
  • Use the hashtag #LRgenetics to follow the conversation and connect with other members of the global Genetics & Genomics community!

Myriad Genetics Applauds New Expanded Carrier Screening Practice Guidelines from NSGC

Retrieved on: 
Wednesday, March 1, 2023
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SALT LAKE CITY, March 01, 2023 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. , (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced its support for the first evidence-based expanded carrier screening (ECS) practice guidelines for reproductive risk assessment published by the National Society of Genetic Counselors (NSGC) in the Journal of Genetic Counseling.

Key Points: 
  • SALT LAKE CITY, March 01, 2023 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. , (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced its support for the first evidence-based expanded carrier screening (ECS) practice guidelines for reproductive risk assessment published by the National Society of Genetic Counselors (NSGC) in the Journal of Genetic Counseling.
  • Myriad’s Dale Muzzey, chief scientific officer; Katie Johansen Taber, VP, clinical product research and partnerships; and Gabriel Lazarin, VP of Medical Affairs for Women’s Health, share their perspectives on the impact of the guidelines in the video below and on Myriad’s YouTube channel.

Natera Reports Fourth Quarter and Full Year 2022 Financial Results

Retrieved on: 
Tuesday, February 28, 2023
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Generated total revenues of $217.3 million in the fourth quarter of 2022 compared to $173.0 million in the fourth quarter of 2021, an increase of 25.6%.

Key Points: 
  • Generated total revenues of $217.3 million in the fourth quarter of 2022 compared to $173.0 million in the fourth quarter of 2021, an increase of 25.6%.
  • Processed approximately 559,700 tests in the fourth quarter of 2022, compared to approximately 438,800 tests processed in the fourth quarter of 2021, an increase of 27.6%.
  • Natera had lower margins in the fourth quarter of 2022 compared to the fourth quarter 2021 primarily due to increased labor and overhead costs driven by volume growth and customer support.
  • Weighted average shares outstanding were approximately 104.3 million in the fourth quarter of 2022 compared to 94.8 million in the fourth quarter of the prior year.

Myriad Genetics Focuses on Expanding Access, Collaboration and Equity in Genetic Testing at National Society of Genetic Counselors Meeting

Retrieved on: 
Monday, November 14, 2022
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Were committed to increasing collaboration with the genetic counselor community to make genetic testing more accessible, affordable and easier to use for all patient populations.

Key Points: 
  • Were committed to increasing collaboration with the genetic counselor community to make genetic testing more accessible, affordable and easier to use for all patient populations.
  • Data will highlight how technological improvements now allow for the detection of copy number variants (CNVs) across the genome in NIPS.
  • Myriad Genetics will sponsor NSGCs welcome reception for all genetic counselors who are first-time conference attendees, Wednesday, Nov. 16, 6:00-7:00 p.m. CT.
  • Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all.

New Report Examines Diversity in the Human Genetics and Genomics Workforce

Retrieved on: 
Thursday, November 10, 2022
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The American Society of Human Genetics (ASHG) today released the Human Genetics & Genomics Workforce Survey Report, which takes an in-depth look at the fields workforce demographics, including race, ethnicity, or ancestry; gender identity; sexual orientation; age; disability status; and disadvantaged background.

Key Points: 
  • The American Society of Human Genetics (ASHG) today released the Human Genetics & Genomics Workforce Survey Report, which takes an in-depth look at the fields workforce demographics, including race, ethnicity, or ancestry; gender identity; sexual orientation; age; disability status; and disadvantaged background.
  • This report represents a collaborative and critical step the genetics and genomics professional societies have undertaken to survey our field, Rotimi said.
  • The genetics and genomics workforce is predominantly homogeneous with 67.0% of respondents identifying their race, ethnicity, or ancestry as White.
  • Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide.

Labroots Unveils Cutting-Edge Scientific Agenda at its 10th Annual Genetics Virtual Week, April 19-21, 2022

Retrieved on: 
Thursday, April 14, 2022
Cloud computing, Population, COVID-19, Risk, Research, Science, Program, Biomarker, Review, Precision medicine, COVID-19 testing, Technology, Sex, Hypoxia, Health, Knowledge, Nanopore, Ageing, Genetic distance, Liquid biopsy, Montefiore Medical Center, News, Conference, Genomics, Social media, Albert Einstein College of Medicine, Alpha, Child, Social, Disease, Alexion Pharmaceuticals, CEO, Real-time, Intermountain Healthcare, Whole genome sequencing, Associate, CEU, Industry, Senior counsel, Immunity, Population health, Learning, Stanford University, Infection, Infant, Rady, Clinical research, Continuing education, Critical care, NSGC, Physician, COVID, Institute, Medical device, Pharmaceutical industry, Medical imaging, Online shopping, Genetics, Patient, Omicron, Labroots

YORBA LINDA, Calif., April 14, 2022 /PRNewswire-PRWeb/ -- Labroots, the leading scientific social networking website, offering premier interactive virtual events and webinars, today announces its 10th annual Genetics Virtual Week on April 19-21, 2022. Labroots continues to pave the way in offering a comprehensive, up-to-date, view in the evolving areas of diagnostics, genomics, precision medicine, and translational health at this important event for the scientific community.

Key Points: 
  • You can also keep up with the latest in Genetics & Genomics Science News by following us on Facebook @GeneticsandGenomics and Twitter @Genetics_LR.
  • Labroots is the leading scientific social networking website, and primary source for scientific trending news and premier educational virtual events and webinars and more.
  • Contributing to the advancement of science through content sharing capabilities, Labroots is a powerful advocate in amplifying global networks and communities.
  • Founded in 2008, Labroots emphasizes digital innovation in scientific collaboration and learning.

New Study Highlights the Value of Genetic Testing to Guide Clinical Management and Improve Outcomes for Epilepsy Patients

Retrieved on: 
Saturday, September 25, 2021
ARNP, CCGC, Therapy, Cancer, Genetic, CP, Epilepsy, Diagnosis, CFC, National Society of Genetic Counselors, Risk, LCGC, University of British Columbia, Behavior, Senior counsel, VUS, Private Securities Litigation Reform Act, Hospital, Conference, Patient, National Society, CGC, Health, Master of Science, Prostate cancer, MS, University, Genetic counseling, NSGC, Brain, MSN, Classification, Family, Li–Fraumeni syndrome, Annual conferences, Genetics, Growth, SAN, Research, PTC Therapeutics, Forward-looking statement, PTC, Baylor University, Doctor of Philosophy, NYSE, Genetic testing, Seizure, FACMG, Department, Pharmaceutical industry

This study underscores the importance of genetic testing for all people with epilepsy and supports the growing evidence that medical genetic testing can improve health outcomes and reduce healthcare costs.

Key Points: 
  • This study underscores the importance of genetic testing for all people with epilepsy and supports the growing evidence that medical genetic testing can improve health outcomes and reduce healthcare costs.
  • Notably, the research found that a change in clinical management once genetic results were received was reported by clinicians for nearly half of patients.
  • The full research presentation from Invitae included:
    Epilepsy genetic testing guides clinical management and helps improve patient outcomes.
  • This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding the findings and implications of the study; and the value of genetic testing to guide clinical management and improve outcomes for epilepsy patients.