National Society of Genetic Counselors

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

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 .

Myriad Genetics Applauds New Expanded Carrier Screening Practice Guidelines from NSGC

Retrieved on: 
Wednesday, March 1, 2023

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

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.

New Report Examines Diversity in the Human Genetics and Genomics Workforce

Retrieved on: 
Thursday, November 10, 2022

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.

Invitae study shows therapy informed by genetic testing reduces seizures in some patients with epilepsy

Retrieved on: 
Monday, October 31, 2022

SAN FRANCISCO, Oct. 31, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced the findings of a study that documents the actions clinicians take upon receiving a positive diagnostic genetic testing result for patients with epilepsy. The findings, in JAMA Neurology, demonstrate that a positive genetic diagnosis leads to clinical management changes in approximately half of patients and that changes implemented by clinicians based on genetic testing improve health outcomes in as many as three quarters of patients. When a change in management is made based on the results of a positive genetic test result, outcomes for patients with epilepsy generally improve, including reduction, and even complete elimination of seizures. 

Key Points: 
  • This study addresses a longstanding gap in understanding clinician action once positive genetic results are found for patients with epilepsy.
  • A definitive molecular diagnosis obtained from epilepsy genetic testing led to important changes in clinical management that ultimately improved outcomes for patients.
  • It builds on previous Invitae clinical studies demonstrating the precision medicine implications of genetic testing in patients with epilepsy and clinical utility of genetic testing in adult patients with epilepsy.
  • This study expands to show that genetic testing definitively improves the clinical outcomes of some patients with epilepsy, through gene-based personalized therapy and management, and should be standard of care for all patients with epilepsy.

Sema4|GeneDx Commends New Evidence-Based Guidelines from the National Society of Genetic Counselors Recommending Exome Sequencing as a First-Tier Genetic Test for Unexplained Epilepsies

Retrieved on: 
Monday, October 31, 2022

STAMFORD, Conn., Oct. 31, 2022 (GLOBE NEWSWIRE) -- Sema4 (Nasdaq: SMFR), a health insights company, supports the new National Society of Genetic Counselors guidelines recommending exome sequencing as a first-tier test, to be prioritized over multi-gene panels for all individuals with unexplained epilepsy, and applauds the American Epilepsy Society for endorsing these guidelines. This is the first evidence-based guideline for genetic testing for individuals with unexplained epilepsy, and the implications are vast, as a significant amount of unexplained epilepsy has a genetic cause1. In many cases, identifying a molecular genetic cause of epilepsy can have implications for treatment and management, including avoiding, stopping, or initiating specific medication or diet recommendations and clinical trial eligibility.

Key Points: 
  • This is the first evidence-based guideline for genetic testing for individuals with unexplained epilepsy, and the implications are vast, as a significant amount of unexplained epilepsy has a genetic cause 1.
  • These recommendations mirror guidelines for other neurodevelopmental disorders such as intellectual disabilities and developmental delays in that they recommend genome and exome sequencing as first-tier tests.
  • These new guidelines demonstrate the importance and advantage of ordering exome sequencing first rather than chromosomal microarray analysis panel testing; in which diagnostic rates are highest 3 for whole genome sequencing (48%), followed by whole exome sequencing (24%).
  • Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors.

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

Retrieved on: 
Saturday, September 25, 2021

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.

Accreditation Council for Genetic Counseling Appoints New Leadership

Retrieved on: 
Wednesday, August 4, 2021

MCLEAN, Va., Aug. 4, 2021 /PRNewswire-PRWeb/ -- The Accreditation Council for Genetic Counseling is pleased to announce the results of its organizational leadership elections.

Key Points: 
  • MCLEAN, Va., Aug. 4, 2021 /PRNewswire-PRWeb/ -- The Accreditation Council for Genetic Counseling is pleased to announce the results of its organizational leadership elections.
  • She began her career as a clinical genetic counselor providing prenatal, pediatric, and adult genetic counseling services.
  • Her thesis "An Assessment of Understanding in Hispanic Genetic Counseling Patients" was published in the Journal of Genetic Counseling.
  • The Accreditation Council for Genetic Counseling (ACGC) is a specialized accrediting body newly formed in January 2013 out of its predecessor organization the American Board of Genetic Counseling.

Genetic Counseling, the barriers to access, and how we overcome them

Retrieved on: 
Friday, April 30, 2021

Improving patient outcomes starts with an accurate and timely diagnosis.\nFor many people, location is a considerable obstacle to accessing genetic counseling services.

Key Points: 
  • Improving patient outcomes starts with an accurate and timely diagnosis.\nFor many people, location is a considerable obstacle to accessing genetic counseling services.
  • Still, even with larger urban areas and centers, location can be a real barrier to genetic counseling services.\nAs awareness about genetic screening, genetic testing , and rare diseases increases, so does the demand for genetic counseling.
  • It also removes scheduling conflicts and tries to fit genetic counseling and traveling to it into a family's schedule when moved online.
  • From the first meeting with a genetic counselor to more specific guidance with genetic testing and analysis options to understand how to manage a rare disease, online genetic counseling delivers help, information, and support fast.\n"

Variantyx Launches Its Whole Genome Sequencing (WGS)-Based In-Silico Panel Program at National Society of Genetic Counselors Annual Conference

Retrieved on: 
Tuesday, November 5, 2019

Variantyx today announced the launch of its in-silico panel program which is an extension of its Genomic Unity whole genome sequencing (WGS)-based testing service.

Key Points: 
  • Variantyx today announced the launch of its in-silico panel program which is an extension of its Genomic Unity whole genome sequencing (WGS)-based testing service.
  • Introduction of the in-silico panel program will provide greater ordering flexibility for clinicians working with narrow reimbursement policies.
  • The company will be presenting its Genomic Unity testing program at the National Society of Genetic Counselors (NSGC) annual conference November 5-8 in Salt Lake City, Utah.
  • About Variantyx: Variantyx is a CLIA/CAP laboratory providing Genomic Unity, a whole genome sequencing (WGS)-based testing program for diagnosis of rare inherited disorders.