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EXCEL Continuing Education

The Role of the Genetic Counselor in Pompe Disease

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Overview / Abstract:

Participants must have an NSGC license to participate. 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 this knowledge/practice gap by helping guide genetic counselor efforts by providing a clear understanding of the role for families or carriers of Pompe disease identified thru NBS; explain special considerations (i.e., diagnosis of LOPD, before appearance of symptoms) and impact and implications associated with genetic risk, carrier status, and preconception counseling, ending with a framework for a standardized approach to genetic counseling for patients and at-risk family members.


Feb 09, 2020


Counselor CE


Webinar / Webcast / Video

Credits / Hours

1.16 Cat. 1 contact hours for Genetic Counselors or 0.116 CEUs

Presenters / Authors / Faculty

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

Activity Specialities / Related Topics


Sponsors / Supporters / Grant Providers

Sanofi Genzyme

Keywords / Search Terms

EXCEL Continuing Education genetic counselors, Pompe disease, rare diseases, genetics, rare disorders. Free CE CME

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