Accessibility Statement Skip Navigation
  • Resources
  • Investor Relations
  • Journalists
  • Agencies
  • Client Login
  • Send a Release
Return to PR Newswire homepage
  • News
  • Products
  • Contact
When typing in this field, a list of search results will appear and be automatically updated as you type.

Searching for your content...

No results found. Please change your search terms and try again.
  • News in Focus
      • Browse News Releases

      • All News Releases
      • All Public Company
      • English-only
      • News Releases Overview

      • Multimedia Gallery

      • All Multimedia
      • All Photos
      • All Videos
      • Multimedia Gallery Overview

      • Trending Topics

      • All Trending Topics
  • Business & Money
      • Auto & Transportation

      • All Automotive & Transportation
      • Aerospace, Defense
      • Air Freight
      • Airlines & Aviation
      • Automotive
      • Maritime & Shipbuilding
      • Railroads and Intermodal Transportation
      • Supply Chain/Logistics
      • Transportation, Trucking & Railroad
      • Travel
      • Trucking and Road Transportation
      • Auto & Transportation Overview

      • View All Auto & Transportation

      • Business Technology

      • All Business Technology
      • Blockchain
      • Broadcast Tech
      • Computer & Electronics
      • Computer Hardware
      • Computer Software
      • Data Analytics
      • Electronic Commerce
      • Electronic Components
      • Electronic Design Automation
      • Financial Technology
      • High Tech Security
      • Internet Technology
      • Nanotechnology
      • Networks
      • Peripherals
      • Semiconductors
      • Business Technology Overview

      • View All Business Technology

      • Entertain­ment & Media

      • All Entertain­ment & Media
      • Advertising
      • Art
      • Books
      • Entertainment
      • Film and Motion Picture
      • Magazines
      • Music
      • Publishing & Information Services
      • Radio & Podcast
      • Television
      • Entertain­ment & Media Overview

      • View All Entertain­ment & Media

      • Financial Services & Investing

      • All Financial Services & Investing
      • Accounting News & Issues
      • Acquisitions, Mergers and Takeovers
      • Banking & Financial Services
      • Bankruptcy
      • Bond & Stock Ratings
      • Conference Call Announcements
      • Contracts
      • Cryptocurrency
      • Dividends
      • Earnings
      • Earnings Forecasts & Projections
      • Financing Agreements
      • Insurance
      • Investments Opinions
      • Joint Ventures
      • Mutual Funds
      • Private Placement
      • Real Estate
      • Restructuring & Recapitalization
      • Sales Reports
      • Shareholder Activism
      • Shareholder Meetings
      • Stock Offering
      • Stock Split
      • Venture Capital
      • Financial Services & Investing Overview

      • View All Financial Services & Investing

      • General Business

      • All General Business
      • Awards
      • Commercial Real Estate
      • Corporate Expansion
      • Earnings
      • Environmental, Social and Governance (ESG)
      • Human Resource & Workforce Management
      • Licensing
      • New Products & Services
      • Obituaries
      • Outsourcing Businesses
      • Overseas Real Estate (non-US)
      • Personnel Announcements
      • Real Estate Transactions
      • Residential Real Estate
      • Small Business Services
      • Socially Responsible Investing
      • Surveys, Polls and Research
      • Trade Show News
      • General Business Overview

      • View All General Business

  • Science & Tech
      • Consumer Technology

      • All Consumer Technology
      • Artificial Intelligence
      • Blockchain
      • Cloud Computing/Internet of Things
      • Computer Electronics
      • Computer Hardware
      • Computer Software
      • Consumer Electronics
      • Cryptocurrency
      • Data Analytics
      • Electronic Commerce
      • Electronic Gaming
      • Financial Technology
      • Mobile Entertainment
      • Multimedia & Internet
      • Peripherals
      • Social Media
      • STEM (Science, Tech, Engineering, Math)
      • Supply Chain/Logistics
      • Wireless Communications
      • Consumer Technology Overview

      • View All Consumer Technology

      • Energy & Natural Resources

      • All Energy
      • Alternative Energies
      • Chemical
      • Electrical Utilities
      • Gas
      • General Manufacturing
      • Mining
      • Mining & Metals
      • Oil & Energy
      • Oil and Gas Discoveries
      • Utilities
      • Water Utilities
      • Energy & Natural Resources Overview

      • View All Energy & Natural Resources

      • Environ­ment

      • All Environ­ment
      • Conservation & Recycling
      • Environmental Issues
      • Environmental Policy
      • Environmental Products & Services
      • Green Technology
      • Natural Disasters
      • Environ­ment Overview

      • View All Environ­ment

      • Heavy Industry & Manufacturing

      • All Heavy Industry & Manufacturing
      • Aerospace & Defense
      • Agriculture
      • Chemical
      • Construction & Building
      • General Manufacturing
      • HVAC (Heating, Ventilation and Air-Conditioning)
      • Machinery
      • Machine Tools, Metalworking and Metallurgy
      • Mining
      • Mining & Metals
      • Paper, Forest Products & Containers
      • Precious Metals
      • Textiles
      • Tobacco
      • Heavy Industry & Manufacturing Overview

      • View All Heavy Industry & Manufacturing

      • Telecomm­unications

      • All Telecomm­unications
      • Carriers and Services
      • Mobile Entertainment
      • Networks
      • Peripherals
      • Telecommunications Equipment
      • Telecommunications Industry
      • VoIP (Voice over Internet Protocol)
      • Wireless Communications
      • Telecomm­unications Overview

      • View All Telecomm­unications

  • Lifestyle & Health
      • Consumer Products & Retail

      • All Consumer Products & Retail
      • Animals & Pets
      • Beers, Wines and Spirits
      • Beverages
      • Bridal Services
      • Cannabis
      • Cosmetics and Personal Care
      • Fashion
      • Food & Beverages
      • Furniture and Furnishings
      • Home Improvement
      • Household, Consumer & Cosmetics
      • Household Products
      • Jewelry
      • Non-Alcoholic Beverages
      • Office Products
      • Organic Food
      • Product Recalls
      • Restaurants
      • Retail
      • Supermarkets
      • Toys
      • Consumer Products & Retail Overview

      • View All Consumer Products & Retail

      • Entertain­ment & Media

      • All Entertain­ment & Media
      • Advertising
      • Art
      • Books
      • Entertainment
      • Film and Motion Picture
      • Magazines
      • Music
      • Publishing & Information Services
      • Radio & Podcast
      • Television
      • Entertain­ment & Media Overview

      • View All Entertain­ment & Media

      • Health

      • All Health
      • Biometrics
      • Biotechnology
      • Clinical Trials & Medical Discoveries
      • Dentistry
      • FDA Approval
      • Fitness/Wellness
      • Health Care & Hospitals
      • Health Insurance
      • Infection Control
      • International Medical Approval
      • Medical Equipment
      • Medical Pharmaceuticals
      • Mental Health
      • Pharmaceuticals
      • Supplementary Medicine
      • Health Overview

      • View All Health

      • Sports

      • All Sports
      • General Sports
      • Outdoors, Camping & Hiking
      • Sporting Events
      • Sports Equipment & Accessories
      • Sports Overview

      • View All Sports

      • Travel

      • All Travel
      • Amusement Parks and Tourist Attractions
      • Gambling & Casinos
      • Hotels and Resorts
      • Leisure & Tourism
      • Outdoors, Camping & Hiking
      • Passenger Aviation
      • Travel Industry
      • Travel Overview

      • View All Travel

  • Policy & Public Interest
      • Policy & Public Interest

      • All Policy & Public Interest
      • Advocacy Group Opinion
      • Animal Welfare
      • Congressional & Presidential Campaigns
      • Corporate Social Responsibility
      • Domestic Policy
      • Economic News, Trends, Analysis
      • Education
      • Environmental
      • European Government
      • FDA Approval
      • Federal and State Legislation
      • Federal Executive Branch & Agency
      • Foreign Policy & International Affairs
      • Homeland Security
      • Labor & Union
      • Legal Issues
      • Natural Disasters
      • Not For Profit
      • Patent Law
      • Public Safety
      • Trade Policy
      • U.S. State Policy
      • Policy & Public Interest Overview

      • View All Policy & Public Interest

  • People & Culture
      • People & Culture

      • All People & Culture
      • Aboriginal, First Nations & Native American
      • African American
      • Asian American
      • Children
      • Diversity, Equity & Inclusion
      • Hispanic
      • Lesbian, Gay & Bisexual
      • Men's Interest
      • People with Disabilities
      • Religion
      • Senior Citizens
      • Veterans
      • Women
      • People & Culture Overview

      • View All People & Culture

      • In-Language News

      • Arabic
      • español
      • português
      • Česko
      • Danmark
      • Deutschland
      • España
      • France
      • Italia
      • Nederland
      • Norge
      • Polska
      • Portugal
      • Россия
      • Slovensko
      • Suomi
      • Sverige
  • Explore Our Platform
  • Plan Campaigns
  • Create with AI
  • Distribute Press Releases
  • Amplify Content
  • All Products
  • General Inquiries
  • Editorial Bureaus
  • Partnerships
  • Media Inquiries
  • Worldwide Offices
  • Hamburger menu
  • PR Newswire: news distribution, targeting and monitoring
  • Send a Release
    • ALL CONTACT INFO
    • Contact Us

      888-776-0942
      from 8 AM - 10 PM ET

  • Send a Release
  • Client Login
  • Resources
  • Blog
  • Journalists
  • RSS
  • News in Focus
    • Browse All News
    • Multimedia Gallery
    • Trending Topics
  • Business & Money
    • Auto & Transportation
    • Business Technology
    • Entertain­ment & Media
    • Financial Services & Investing
    • General Business
  • Science & Tech
    • Consumer Technology
    • Energy & Natural Resources
    • Environ­ment
    • Heavy Industry & Manufacturing
    • Telecomm­unications
  • Lifestyle & Health
    • Consumer Products & Retail
    • Entertain­ment & Media
    • Health
    • Sports
    • Travel
  • Policy & Public Interest
  • People & Culture
    • People & Culture
  • Send a Release
  • Client Login
  • Resources
  • Blog
  • Journalists
  • RSS
  • Explore Our Platform
  • Plan Campaigns
  • Create with AI
  • Distribute Press Releases
  • Amplify Content
  • All Products
  • Send a Release
  • Client Login
  • Resources
  • Blog
  • Journalists
  • RSS
  • General Inquiries
  • Editorial Bureaus
  • Partnerships
  • Media Inquiries
  • Worldwide Offices
  • Send a Release
  • Client Login
  • Resources
  • Blog
  • Journalists
  • RSS

Important New Joint Consensus Recommendation from the ACMG and ClinGen Provides Technical Standards for the Interpretation and Reporting of Constitutional Copy Number Variants

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. (PRNewsfoto/American College of Medical G...)

News provided by

American College of Medical Genetics and Genomics

Nov 13, 2019, 08:00 ET

Share this article

Share toX

Share this article

Share toX

BETHESDA, Md., Nov. 13, 2019 /PRNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) have released an important new joint consensus recommendation that will guide the evaluation of constitutional copy number variants (CNVs), encourage consistency and transparency across clinical laboratories, and lead to improved quality of patient care.

The extensive and detailed recommendation, "Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)," is the result of a joint collaborative working group of ACMG and ClinGen, working together since 2015, to update the existing ACMG clinical laboratory practice standards for evaluating CNVs. Copy number analysis is recommended as a first-tier approach for the evaluation of individuals with neurodevelopmental disorders, such as intellectual disability, developmental delay and autism spectrum disorder, as well as for individuals with multiple congenital anomalies and for fetuses with ultrasound abnormalities.

"It is our hope that having standards that are widely available, up to date, and flexible enough to incorporate lessons learned from the ever-evolving clinical genomics knowledge base will help to reduce discordance in clinical classifications and will improve clinical care," said Christa Lese Martin, PhD, FACMG, the paper's senior author.

The recommendation represents a significant update from previous recommendations published in 2011 entitled "American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants," and is intended to complement the widely cited 2015 paper for sequence variants, "Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology."

The updated technical standards include several major changes from the previous document. The first major change is using the same five-tier system used in sequence variant classification: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. The previous standards recommended utilizing "likely pathogenic" and "likely benign" as sub-categories under "uncertain significance" (essentially a 3-tier system). Harmonizing copy number and sequence variant terminology will become increasingly important as the identification and classification of both types of variants within a single platform becomes more commonplace.

The second major change encourages laboratories to uncouple the classification of the variant from the clinical significance for the patient. While the patient's phenotype may be an important piece of evidence to consider when determining the classification of the variant, it should not override other evidence for or against the pathogenicity of the variant, and it should not be used to justify different classifications of the same variant in different individuals. For example, loss of function variants in a particular gene are known to cause hearing loss; there is enough evidence to warrant calling deletions of this gene pathogenic. A deletion of this gene in an individual not reported to have hearing loss should not be called "uncertain significance" solely because hearing loss was not their reason for referral; this could represent an incidental finding with potential implications for the individual's future health, or a cause for a phenotype that was not reported. The practice of changing the variant classification based on whether it explained the stated reason for referral has the potential to result in both inter- and intra-laboratory variant classification discrepancies; this change is intended to help reduce this issue.

The most substantial change is the incorporation of points-based scoring metrics to systematically guide laboratories through the classification of copy number losses and gains. In this scoring system, the various types of evidence considered when evaluating CNVs are awarded points based on their relative strengths, with positive point values for evidence for pathogenicity and negative point values for evidence against pathogenicity. At the end of the evaluation, the sum of all accumulated points leads to a suggested classification. "The scoring metrics are intended to be a guide to provide more structure and transparency to the CNV evaluation," said Erin Rooney Riggs, MS, CGC, the paper's lead author. "We have developed this type of quantitative metric for other types of curation within ClinGen which are being used successfully to increase consistency in data interpretation. With education and experience, we anticipate that the use of these metrics, as well as the other recommendations in these updated technical standards, will lead to increased consistency in constitutional CNV classification."

The recommendation states, "Although these standards attempt to comprehensively incorporate commonly available resources and processes used in CNV classification and interpretation, it is important to recognize that no singular algorithm will be applicable in all potential scenarios.The semi-quantitative scoring framework is meant to serve as a guide. Professional judgment should always be used when evaluating the evidence surrounding a particular genomic variant and assigning a classification."

The working group and authors on the new joint consensus recommendations include: Erin Rooney Riggs, MS, CGC; Erica F. Andersen, PhD; Athena M. Cherry, PhD; Sibel Kantarci, PhD; Hutton Kearney, PhD; Ankita Patel, PhD; Gordana Raca, MD, PhD; Deborah I. Ritter, PhD; Sarah T. South, PhD; Erik C. Thorland, PhD; Daniel Pineda-Alvarez, MD; Swaroop Aradhya, PhD and Christa Lese Martin, PhD.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation for Genetic and Genomic Medicine

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,300 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare,resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

About the Clinical Genome Resource

The Clinical Genome Resource (ClinGen) is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. Since 2012, ClinGen has worked to facilitate responsible genomic and phenotypic data sharing between clinicians, clinical laboratories, researchers, and patients; to develop and implement standards to support clinical annotation and interpretation of genes and variants; to enhance and accelerate expert review of the clinical relevance of genes and variants; and to disseminate and integrate ClinGen knowledge and resources to the broader community. ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI) through the following three grants: U41HG006834, U41HG009649, and U41HG009650.

Kathy Moran, MBA

[email protected]

SOURCE American College of Medical Genetics and Genomics

Related Links

http://www.acmg.net

WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM?

icon3
440k+
Newsrooms &
Influencers
icon1
9k+
Digital Media
Outlets
icon2
270k+
Journalists
Opted In
GET STARTED

Modal title

Also from this source

Celebrated Clinical Geneticist Dr. Stephen Cederbaum to Receive 2025 David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine

Celebrated Clinical Geneticist Dr. Stephen Cederbaum to Receive 2025 David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine

Celebrated clinical geneticist Stephen Cederbaum, MD, PhD, FACMG, has been named the recipient of the 2025 ACMG Foundation for Genetic and Genomic...

The American College of Medical Genetics and Genomics Elects New Board Members and President-Elect

The American College of Medical Genetics and Genomics Elects New Board Members and President-Elect

The American College of Medical Genetics and Genomics (ACMG) welcomed six new directors, including a new president-elect, to its Board of Directors...

More Releases From This Source

Explore

Household, Consumer & Cosmetics

Household, Consumer & Cosmetics

Retail

Retail

Health Care & Hospitals

Health Care & Hospitals

Surveys, Polls and Research

Surveys, Polls and Research

News Releases in Similar Topics

Contact PR Newswire

  • Call PR Newswire at 888-776-0942
    from 8 AM - 9 PM ET
  • Chat with an Expert
  • General Inquiries
  • Editorial Bureaus
  • Partnerships
  • Media Inquiries
  • Worldwide Offices

Products

  • For Marketers
  • For Public Relations
  • For IR & Compliance
  • For Agency
  • All Products

About

  • About PR Newswire
  • About Cision
  • Become a Publishing Partner
  • Become a Channel Partner
  • Careers
  • Accessibility Statement
  • APAC
  • APAC - Simplified Chinese
  • APAC - Traditional Chinese
  • Brazil
  • Canada
  • Czech
  • Denmark
  • Finland
  • France
  • Germany
  • India
  • Indonesia
  • Israel
  • Italy
  • Japan
  • Korea
  • Mexico
  • Middle East
  • Middle East - Arabic
  • Netherlands
  • Norway
  • Poland
  • Portugal
  • Russia
  • Slovakia
  • Spain
  • Sweden
  • United Kingdom
  • Vietnam

My Services

  • All New Releases
  • Platform Login
  • ProfNet
  • Data Privacy

Do not sell or share my personal information:

  • Submit via [email protected] 
  • Call Privacy toll-free: 877-297-8921

Contact PR Newswire

Products

About

My Services
  • All News Releases
  • Platform Login
  • ProfNet
Call PR Newswire at
888-776-0942
  • Terms of Use
  • Privacy Policy
  • Information Security Policy
  • Site Map
  • RSS
  • Cookies
Copyright © 2025 Cision US Inc.