Hereditary ATTR Amyloidosis: The Role of Genetic Testing and Recommendations for Genetic Carriers
In this ARC TALKS webinar, cardiologist Dr. Ahmad Masri MD, MS and genetic counselor Emily Brown, MGC, CGC discuss the role of genetic testing in hereditary ATTR amyloidosis care, along with providing disease management recommendations for genetic carriers.
Emily addresses the importance of genetic counseling while sharing tips to support patients and family members on their journey of genetic counseling.
In addition to giving an overview of hereditary ATTR amyloidosis, Dr. Masri discusses the link between hereditary ATTR amyloidosis and genetic predisposition. Dr. Masri also guides asymptomatic and symptomatic carriers with recommendations for monitoring disease progression and identifying symptoms.
The presentation is followed by a Q and A section.
0:00 Introduction
4:30 Emily's Presentation Begins
6:41 Intro to Genetic Counseling
17:32 Testing Considerations
24:33 Summary of Genetic Counseling Presentation
25:34 Dr. Masri's Presentation Begins
26:55 Definition of Transthyretin Amyloidosis
27:12 Definition of Hereditary Transthyretin Amyloidosis
32:00 Scenarios of Hereditary Transthyretin Amyloidosis
33:13 Who Should Undergo Genetic Testing?
35:05 Disease Development Surveillance
40:54 Summary of Dr. Masri's Presentation
42: 28 Q and A
57:37 Closing Remarks
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