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ClinGen Gene-Disease Validity Curation Module - Version 2022
Description



Date of Release: January 3, 2022
Expiration Date: December 31, 2022
Educational Credits Offered: CME, P.A.C.E.®,NSGC Category 2 (Self-report)
Estimate Time of Completion: 10 hours per curation
Course must be completed by the expiration date

 

Overview

The Clinical Genome Resource (ClinGen https://www.clinicalgenome.org/tools/clingen-gene-disease-validity-curation-module) is an 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.

 

In 2017, ClinGen published “Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource” (Strande et al. 2017, PMCID: PMC5473734). The framework involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease. This framework 1) defines the criteria needed to assess clinical validity, 2) describes the evidence supporting a gene-disease association in a semi-quantitative manner, and 3) allows biocurators to use this information to methodically classify the validity of a given gene-disease pair.

 

ClinGen forms Gene Curation Expert Panels (GCEPs) to implement the approved process of gene-disease validity evaluation. Each GCEP is focused on a particular disease area (for example, hereditary cancer, intellectual disability/autism, hearing loss, etc.) and includes members with clinical care, research, and diagnostic laboratory expertise within that domain, as well as biocurators with experience in the gene-disease validity process. In most cases, a biocurator completes the initial gene-disease curation and arrives at a provisional classification, followed by presentation of the data to the GCEP for expert review and final approval. GCEPs utilize the ClinGen Gene Curation Interface (GCI) for documentation of gene-disease validity classifications, and all curations completed by the group are made publicly available through the ClinGen website (https://www.clinicalgenome.org/tools/clingen-gene-disease-validity-curation-module).

For questions about eligibility and content, please contact clingen@clinicalgenome.org. For technical questions, please contact education@acmg.net.

 

Learning Objectives

  • Use the ClinGen gene-disease clinical validity curation process to evaluate the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease
  • Perform a literature search to identify relevant publications to support a gene curation
  • Score collected/collated evidence in the ClinGen GCI to determine a provisional classification for a gene-disease pair based on guidelines
  • Present evidence summary supporting provisional classification for expert approval
  • Publish approved gene curation to clinicalgenome.org 

 

For the purpose of this module, learning objectives will be demonstrated by the learner by submitting a ClinGen GCEP-approved gene-disease curation final evidence summary published on clinicalgenome.org.  

Each curation has been approved for up to 10 hours of credit. You may submit up to 10 curations per year. Please complete a separate module for each curation you are submitting.

Target Audience

This ClinGen Gene-Disease Validity Curation module is intended to provide learners with educational credit for participating in ClinGen gene curation activities and is available to individuals who are existing members of ClinGen GCEPs and have had at least one gene curation previously approved by a ClinGen GCEP.

References

Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, et al. 2017. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am. J. Hum. Genet. 100(6):895–906

Planning and Faculty

 

Danielle Azzariti, MS, CGC

Senior Project Manager

Broad Institute of MIT and Harvard

dazzarit@broadinstitute.org

Johnathan Berg, MD, FACMG

Professor, Department of Genetics

University of North Carolina at Chapel Hill

jonathan_berg@med.unc.edu

Marina DiStefano, PhD

Assistant Professor

Clinical Laboratory Director

Board Eligible Clinical Molecular Geneticist

mtdistefano@geisinger.edu 

Jenny Goldstein, PhD, CGC

Senior Biocurator, Supervisor

ClinGen Biocuration Core

jennifer.goldstein@unc.edu

Maximilian Muenke, MD, FACMG

Chief Executive Officer

American College of Medical Genetics & Genomics

MMuenke@acmg.net

Erin Rooney Riggs, MS, CGC

Assistant Professor

Autism & Developmental Medicine Institute

Geisinger

eriggs@geisinger.edu

Courtney Thaxton, PhD

Assistant Director

UNC Biocuration and Coordination Core

courtney_thaxton@med.unc.edu

Meredith Weaver, PhD, ScM, CGC

Associate Project Director

American College of Medical Genetics & Genomics

mweaver@acmg.net

 

Accredited Continuing Education Information

Accreditation
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of The American College of Medical Genetics and ClinGen - Clinical Genome Resource Genomics and is accredited by the ACCME to provide continuing medical education for physicians.

CME Credit Designation

The American College of Medical Genetics and Genomics designates this enduring material for a maximum of 10 hours in AMA PRA Category 1 Credits™.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

 

National Society of Genetic Counselors (NSGC)

This activity meets requirements to apply for Category 2 CEUs from the National Society of Genetic Counselors (NSGC). Please complete the module and submit your certificate to NSGC, using the instructions for “How Do I Get Category 2 CEUs?” on https://www.nsgc.org/page/ceuapproval#Learn%20About%20Category%202%20CEUs. ACMG is the accredited sponsor. You must apply within three months of the activity date, but you will be able to submit up to 10 curations under one $25 fee for this activity.

 

Claiming your Educational Credits

  • Invitation code
  • Provide a record of a ClinGen GCEP-approved, published classification below, including:
  • Gene Name
  • Disease Name
  • Clinicalgenome.org url of Gene-Disease Curation
  • Upload a PDF of the approved and published evidence summary from the GCI
  • Gene-Disease Classification Approval Date
  • Evaluation (required for self-reporting)

Please note: In the Self Report section, you will be asked how many CMEs are requested. 1 CME is the equivalent of one hour. Please use that field to document the number of hours (maximum of 10) you spent gathering, evaluating and scoring evidence as well as presenting to the GCEP for approval.

Disclosures and Policies

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice. ACMG requires that all ACE activities are scientifically based, accurate, current, and objectively presented. All recommendations for patient care must be based on current science, evidence, and clinical reasoning, while giving a fair and balanced view of diagnostic and therapeutic options. All scientific research referred to, reported, or used in accredited education in support or justification of a patient care recommendation must conform to the generally accepted standards of experimental design, data collection, analysis, and interpretation. Education may not advocate for, or promote, practices that are not, or not yet adequately based on current science, evidence, and clinical reasoning, such as new and evolving topics.

ACMG is committed to provide accredited continuing medical education that offer healthcare professionals with a protected space to learn, teach, and engage in scientific discourse free of the influence from organizations that may have an incentive to insert commercial bias into the education. Education must be free of the influence or control of ineligible entities, and protect learners from promotion, marketing, and commercial bias. Presentation materials may not include logos or product messaging from ineligible companies and shall use generic names, rather than trade names, when referencing pharmaceutical or medical device products. Owners and employees of ineligible companies are considered to have unresolvable financial relationships and shall have no role in accredited continuing education.

Financial relationships held with ineligible companies have the potential to influence and create bias in the content of accredited education. Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients. Financial relationships are defined as any relationship held with an ineligible company within the prior 24 months, regardless of the amount and whether relevant to the education. Examples of such relationships include employee, researcher, consultant, advisor, speaker, independent contractor (including contracted research), royalties or patient beneficiary, executive role, ownership interest, individual stock and stock options, institutional research funding if principal or named investigator.

 ACMG education and designated content experts without any relevant conflicts will identify and review all financial relationships held by planners, faculty, and others who would be in position to control the content of accredited education, and determine which relationships are relevant. Relevant financial relationships will be mitigated prior to individuals assuming their roles in the activity. Persons who fail or refuse to disclose all financial relationships, or do not cooperate with mitigation strategies implemented, will be disqualified. Relevant financial relationships will be disclosed to learners prior to their engagement with the accredited education and include information about the names of ineligible companies and nature of relationships. All activities will be evaluated to determine if the content was free of commercial bias and met acceptable scientific standards.

The following reported disclosures and none are relevant to the content of this course. All of the relevant financial relationships listed for these individuals have been mitigated.

The following planning committee and ACMG staff have nothing to disclose.

 

Danielle Azzariti, MS, CGC

Johnathan Berg, MD, FACMG

Marina DiStefano, PhD

Jenny Goldstein, PhD, CGC

Maximilian Muenke, MD, FACMG

Erin Rooney Riggs, MS, CGC

Courtney Thaxton, PhD

Meredith Weaver, PhD, ScM, CGC

 

Content Validation Policy

The ACMG is responsible for ensuring that all Accredited Continuing Education (ACE) is fair balanced and that any clinical content presented supports safe, effective patient care

This is accomplished by:

  1. All recommendations for patient care in accredited continuing education must be based on current science, evidence, and clinical reasoning, while giving a fair and balanced view of diagnostic and therapeutic options.
  2. All scientific research referred to, reported, or used in ACE is in support or justification of a patient care recommendation must conform to the generally accepted standards of experimental design, data collection, analysis, and interpretation.
  3. Although ACE is an appropriate place to discuss, debate, and explore new and evolving topics, these areas need to be clearly identified as such within the program and individual presentations. It is the responsibility of accredited providers to facilitate engagement with these topics without advocating for, or promoting, practices that are not, or not yet, adequately based on current science, evidence, and clinical reasoning.
  4. ACMG requests activity faculty/presenters to disclose to learners any description of unlabeled use or investigational use of pharmaceutical/device products. Faculty must use scientific or generic names (not trade names) in referring to products; and, if necessary, when using a trade name, to use the names of similar products or those within a class.
  5. ACMG ACE activities cannot advocate for unscientific approaches to diagnosis or therapy, or if their education promotes recommendations, treatment, or manners of practicing healthcare that are determined to have risks or dangers that outweigh the benefits or are known to be ineffective in the treatment of patients.

Off-Label Uses of Products

When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the ACMG requires the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.

HIPAA Compliance by Faculty

The American College of Medical Genetics and Genomics ("ACMG") supports medical information privacy. While the ACMG is not a "covered entity" under the Health Insurance Portability and Accountability Act of 1996 ("HIPAA") and its implementing regulations (the "HIPAA Privacy Rules") and, therefore, is not required to meet the standards set forth in the HIPAA Privacy Rules, ACMG takes reasonable steps to attempt to ensure that any presentation of individually-identifiable health information at ACMG-sponsored events has been properly authorized.

 

Disclaimer

ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Questions regarding CE credit should be directed to education@acmg.net

Summary
Availability: On-Demand
Expires on Dec 31, 2022
Cost: FREE
Credit Offered:
10 CME (AMA) Credits
10 CME (Other) Credits

© 2022 American College of Medical Genetics and Genomics. All rights reserved.

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