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
Lethal skeletal dysplasias are typically identified by routine prenatal ultrasound; however, determining the exact diagnosis by ultrasound alone can be challenging. This webinar will discuss one laboratory’s experience with clinical molecular genetic testing of prenatally identified skeletal dysplasias using targeted NGS panels. The presentation will describe the value of targeted testing in this setting, the genes most commonly responsible for these disorders, special considerations for classification of variants in these genes, and the importance of continuous evaluation of test results to improve the clinical sensitivity of targeted panels. Several cases will be presented as representative examples to illustrate important points.

Date of Release:  November 14, 2018 
Expiration Date:  November 14, 2021

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:

1. Describe the clinical utility of whole exome/whole genome sequencing tests
2. Identify clinical indications for whole exome/whole genome sequencing
3. List determinants used to assess the probability of a variant’s pathogenicity
4. Elaborate on the importance of pre-test counseling and consent

Session learning objectives

At the conclusion of this session, participants should be able to:

1. Discuss the utility of targeted panels for prenatal molecular diagnosis of skeletal dysplasias
2. Identify the genes most commonly responsible for lethal skeletal dysplasias
3. Recognize the importance of gene specific guidelines for sequence variant interpretation
4. Describe the value of continuously evaluating test results to improve the clinical sensitivity of targeted panels

 

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 and Disclosures

Kerry K. Brown, Ph.D., FACMG

Associate Medical Director, Connective Tissue Gene Tests (CTGT)

Disclosures: Salary/Employment; Connective Tissue Gene Tests