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  • Overview
  • Activity
  • Post-Test
  • Evaluation
  • Claim Credit
The Role of the Genetic Counselor in Pompe Disease

The Role of the Genetic Counselor in Pompe Disease



Time to Complete

1.16 hours


February 13, 2019


February 13, 2020
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Maximum Credits

1.16 / CE for Genetic Counselors (0.11 CEUs)

Genetic Counselor Claim Credit Instructions

Your NSGC ID Number is required for participation in this course. You will be asked to provide it on the Evaluation form and will not receive full credit unless it is provided. The activity is COMPLIMENTARY for NSGC members.

To register for an NSGC ID, please go to, and select “Become a Member” from the site navigation. Please note there is a fee to become an NSGC member.

Accredited Provider

Provided by EXCEL Continuing Education

Commercial Supporter

This activity is supported by an educational grant from Sanofi-Genzyme.

Program Description

An important part of coordinated care for Pompe disease patients, whether diagnosed through NBS, clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counselors help families better understand Pompe disease, including medical recommendations and treatment options, and provide available resources so families with the affected child, and adults diagnosed with Pompe disease, can make informed decisions. Although a need for a genetic counselor after a positive NBS for Pompe disease is recognized, the role that the genetic counselor plays for both families of affected patients and healthcare teams is not fully understood. This activity intends to close these knowledge/practice gaps.

Intended Audience

Genetic Counselors

Educational Objectives

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

  • Compare classic infantile and late-onset presentations
  • Identify clinical signs and symptoms of Pompe disease while summarizing the importance of an early diagnosis
  • Apply strategies and list ethical issues when counseling caregivers and patients of Pompe disease

Conflict Of Interest Disclosure Policy

EXCEL Continuing Education requires all those who are in a position to control the content of this activity including faculty, planners, peer reviewers, and EXCEL staff to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All identified COI are thoroughly vetted and resolved according to EXCEL policy.


Lauren Bailey Flueckinger, MS, CGC
Genetic Counselor
Division of Medical Genetics
Duke University Medical Center
Durham, NC

Ms. Lauren B. Flueckinger has received honoraria as a speaker for Alexion and Sanofi Genzyme.




CE Credit

Accreditation Statement

The National Society of Genetic Counselors (NSGC) has authorized EXCEL CONTINUING EDUCATION to offer up to 0.11 CEUs or 1.16 Category 1 contact hours for the activity The Role of the Genetic Counselor in Pompe Disease. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.

Disclosure of Unlabeled Use

This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.

The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.


Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications on dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.


To obtain credit, a score of 80% or better on the post-test is required. This activity is offered at no cost to participants. Please proceed with the activity until you have successfully completed this program, answered all test questions, completed the post-test and evaluation, and have received a digital copy of your credit certificate. Your online certificate will be saved on myCME within your Profile/CME History, which you can access at any time.

For questions regarding this activity, please contact EXCEL Continuing Education at or phone (305) 630-9414.

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Hardware and Software Requirements
  • A computer with an internet connection
  • Internet Browser: Internet Explorer 7.x or higher, Firefox 4.x or higher, Safari 2.x or higher, or any other W3C standards compliant browser
  • Additional Software: Adobe Flash Player and/or an HTML 5 capable browser maybe required for video or audio playback. PowerPoint or Adobe Acrobat Reader may occasionally be required
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