Paving the Path Towards a Clinical-Grade HGVS Nomenclature -OnDemand
Recorded on Wednesday, April 29, 2020
Date of Release: May 1, 2020
CME, General CEU's, P.A.C.E.® Expiration Date: May 1, 2023
NSGC Credits Expiration Date: May 01, 2022
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This session is designed to engage the molecular diagnostic community in a new initiative to improve alignment of the Human Genome Variation Society (HGVS) nomenclature system with laboratory and healthcare provider needs. This effort is driven by CAP’s Genomics Medicine Resource Committee. A brief overview of the history and current operations of HGVS will be provided and speakers will describe variability of the HGVS nomenclature system derived from proficiency testing data sources (Sanger sequencing and NGS challenges). These data clearly demonstrate a need for optimization and a controlled, standardized implementation across clinical laboratories as well as vendors/developers of variant annotation software. The main focus of this session is to collect interactive feedback from the audience on proposed improvements and strategic paths towards widespread global implementation.
Learning Objectives
At the conclusion of this session, participants should be able to:
- Review the current variability in the usage of HGVS nomenclature system among clinical laboratories.
- Recognize the variability in software tools which generate HGVS nomenclature.
- Discuss the need for a version-controlled and optimized HGVS nomenclature for clinical usage.
- Outline the CAP proficiency testing challenges (Sanger and NGS) with regard to HGVS nomenclature
- Explain potential challenges of health practitioners in understanding HGVS nomenclature
Agenda
Birgit Funke, PhD, FACMG Overview
Johan Den Dunnen, PhD Historic Perspective and Overview of Current HGVS Operations
Ryan J. Schmidt, MD, PhD Defining the Variability in HGVS Nomenclature Usage in Practice: Results from CAP Proficiency Testing Responses
Somak Roy, MD Variant Annotation Software Demonstrate Variability in the HGVS Output
Panelists Walkthrough Improvement Options and Gather Interactive Audience Feedback
Target Audience
Molecular Laboratory Directors, Molecular Pathologists, Trainees, Medical Technologists, Software Developers, Bioinformaticians, Genetic Counselors, Medical Geneticists
Presenters
Birgit Funke, PhD, FACMG
Associate Professor of Pathology (Part-Time), Harvard Medical School, Massachusetts General Hospital
Johan Den Dunnen, PhD
Leiden University Medical Center
Somak Roy, MD
Assistant Professor of Pathology, and Director of Molecular Informatics and genetics Services at the Division of Molecular and Genomic Pathology, University of Pittsburgh Medical Center (UPMC)
Ryan Schmidt, MD, PhD
Assistant Director of the Clinical Genomics Laboratory in the Center for Personalized Medicine in the Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles
Assistant Professor of Clinical Pathology, Keck School of Medicine of USC
Financial Disclosures
Disclosure Statement
It is the policy of the American College of Medical Genetics and Genomics to plan and implement all of its educational activities in accordance with the ACCME Essentials and Areas and ACCME® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Commercial Support, everyone (speakers, moderators, committee members and staff) who is in a position to control the content of an educational activity certified for AMA PRA Category 1 Credit™ is required to disclose all financial relationships with any commercial interests (see definition below) within the past 12 months that creates a real or apparent conflict of interest. Disclosure must include financial relationships of the individual and those of their spouse/partner. Individuals who do not disclose will be disqualified from participating in a CME activity.
This disclosure pertains to relationships with ACCME-defined commercial interests whose products or services may be related to the subject matter of the presentation topic. Any real or apparent conflicts of interest related to the content of the presentations must be managed prior to the educational activity. ACMG will identify, review and resolve all conflicts of interests prior to an educational activity being delivered to learners.
NOTE:
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Johan Den Dunnen, PhD
Has no relevant financial relationships to disclose.
Birgit Funke, PhD, FACMG
Has no relevant financial relationships to disclose.
Somak Roy, MD
Dr. Roy has disclosed that he is a consultant for Roche Sequencing Solutions.
Ryan Schmidt, MD, PhD, MS
Has no relevant financial relationships to disclose.
Educational Credit
Claiming your Educational Credits
Complete the activity, score 80% or better on a post test and carefully complete the evaluation form.
Accreditation Statement
The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
Designation Statement
The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
CE (Continuing Education for non-physicians): This activity has been approved for CE credits.
*The certificate is accepted by the ABMGG for certification.
Genetic Counselor Credit
The National Society of Genetic Counselors (NSGC) has authorized American College of Medical Genetics to offer up to 1.5 Category 1 contact hours for the activity ACMG 2020 Digital Edition. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.
ACMG will report completed accredited sessions to NSGC for credit certificates on December 4, 2020, December 3, 2021 and July 8, 2022. Submissions outside of these parameters may incur a processing fee of $35.
P.A.C.E.® CEUs- Laboratory Directors and Laboratory Personnel
ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program. The American College of Medical Genetics and Genomics designates this OnDemand course for a maximum of 1.5 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider #50-11878. This course is registered # 20-775394 with CEBroker. ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®
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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 tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
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