Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).
Session Description
Despite its effectiveness, 60-75% of patients remain undiagnosed after WES (WES negatives). Standard WES reanalyses can resolve 10-15% of these WES negative cases. Thus, further approaches are necessary to maximize diagnoses in these individuals. The UDN is increasingly accepting patients who are WES negative. The Duke/Columbia and Vanderbilt UDN sites will outline their approaches to WES negative cases and present two illustrative cases that were resolved after a negative WES, by utilizing innovative bioinformatics in WES reanalyses, WGS and functional studies.
Date of Release: January 23, 2019
Expiration Date: January 23, 2022
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date
Learning objectives
At the conclusion of the series, participants should be able to:
- Describe the clinical utility of whole exome/whole genome sequencing tests
- Identify clinical indications for whole exome/whole genome sequencing
- List determinants used to assess the probability of a variant’s pathogenicity
- Elaborate on the importance of pre-test counseling and consent
Session learning objectives
At the conclusion of this session, participants should be able to:
- Delineate systematic approaches to WES negative cases
- Recognize the importance of the role of WES reanalyses and non-coding variants in WES negative cases
- Illustrate the importance of functional studies in determining pathogenicity of variants of interest
Continuing Education Information:
CONTINUING MEDICAL EDUCATION (CME)
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.
Credit Designation:
The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
CONTENT VALIDATION AND FAIR BALANCE
ACMG follows the ACCME policy on Content Validation for CME activities, which requires: a)All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients. b) All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality. If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.
HIPAA COMPLIANCE BY FACULTY
The ACMG supports medical information privacy. While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized. All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information. If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available upon request.
FINANCIAL DISCLOSURES
Planning Committee
Monica Giovanni, MS, CGC
ACMG Education Committee Chair and Liaison to the Program Committee
Nothing to disclose
Anne Slavotinek, MB.BS., PhD, FACMG
University of California, San Francisco (UCSF)
Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate
John Bernat, MD, PhD, FACMG
University of Iowa
Receives grant/research support from Sanofi Genzyme, Shire and Protalix
Staff - American College of Medical Genetics and Genomics
The following have nothing to disclose.
Jane Radford, MHA, CHCP
Claudia Barnett
Michael Watson, PhD, FACMG
Presenter Disclosures
Vandana Shashi, MBBS, MD, FACMG
Professor of Pediatrics
Duke University School of Medicine
Nothing to disclose
Vimla Aggarwal, MBBS, FACMG
Assistant Professor of Pathology & Cell Biology
Columbia University
Nothing to disclose
John A. Phillips, III, MD, FACMG
David T. Karzon Professor of Pediatrics
Professor of Biochemistry, Medicine and Pathology
Vanderbilt University School of Medicine
Nothing to disclose