During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics. The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description:
During this session, a team from the Greenwood Genetic Center will review the utility of exome sequencing and describe cases where further studies can aid in the interpretation of exome findings.

Date of Release: February 15, 2017
Expiration Date: November 25, 2022

Estimate Time of Completion: 1 hour

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. Demonstrate the importance of considering the results of prior testing to guide exome sequencing analysis
2. Explain how exome sequencing results might facilitate follow-up testing by other methodologies to ultimately make the diagnosis and, in some cases, expand the disorder phenotype
3. Discuss the importance of close communication between the clinical and laboratory groups

 

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

Geisinger Health System, Brookline, MA

Nothing to disclose

 

Liming Bao, MD, PhD, FACMG

Dartmouth-Hitchcock Medical Center

Nothing to disclose

 

Christian Schaaf, MD, PhD, FACMG

Baylor College of Medicine and Jan & Dan Duncan Neurological Research Institute, Houston, TX

Nothing to disclose

 

Staff - American College of Medical Genetics and Genomics

Jane Radford, MHA, CHCP

Nothing to disclose

 

Michael Watson, PhD, FACMG

Nothing to disclose

 

Presenters and Disclosures

The following have nothing to disclose.

Julie Jones, PhD, FACMG, Director, Clinical Genomic Sequencing Program

Catherine J. Spellicy, PhD, Clinical Molecular Genetics Laboratory Fellow

Jennifer Anne Lee, PhD, FACMG, Lead Director, Molecular Diagnostic Laboratory

Katarzyna (Kasia) Ellsworth, PhD, Clinical Molecular Genetics Laboratory Fellow