Learning Objectives
At the conclusion of the series, participants should be able to:
Recognize cardinal signs and symptoms of specific genetic conditions commonly seen in the adult genetics clinics
Discuss appropriate diagnostic tools and molecular testing strategies in adult patients with genetic conditions
Recognize challenges and limitations in ordering genetic testing in adults with known genetic conditions and become familiar with measures to overcome them
Describe the utility of whole exome sequencing in adults and its application in the care of the adult genetics patient
Session Learning Objectives
At the conclusion of the session, participants should be able to:
FINANCIAL DISCLOSURES
Planning Committee
Monica Giovanni, MS, CGC, Geisinger Health System, Brookline, MA Nothing to disclose
Susan Klugman, MD, FACMG, Montefiore Medical Center, Bronx, NY Nothing to disclose
Christian Schaaf, MD, PhD, FACMG- Baylor College of Medicine and Jan & Dan Duncan Neurological Research Institute, Houston, TX Dr. Schaaf is employed at Baylor College of Medicine (BCM); BCM has a joint venture with Baylor Miraca Genetic Laboratories
Adult Genetics SIG webinar workgroup
Fernando Arena, MD, FACMG-TX Dept of State Health Services Nothing to disclose
Shweta Dhar, MD, MS, FACMG – Baylor College of Medicine Dr. Dhar is owner & co-founder of PanGenomics, India
Tanya Eble, MS, CGC – Baylor College of Medicine Ms. Eble is employed at Baylor College of Medicine (BCM); BCM has a joint venture with Baylor Miraca Genetic Laboratories
Fuki Hisama, MD, FACMG – Univ of Washington, Seattle Dr. Hisama is a consultant for Horizon pharmaceuticals
Matthew Taylor, MD, FACMG – Univ of Colorado, Denver Dr. Taylor has Grant/Research Support; Genzyme/Sanofi, Shire Therapeutics, Amicus Therapeutics, Bristol Myers Squibb, Consultant; GeneDx
Jaime Vengoechea, MD, FACMG – Emory University Nothing to disclose
Staff
Jane Radford, MHA, CHCP Nothing to disclose
Faculty Disclosures
The following presenters from Emory University School of Medicine have Nothing to disclose.
Jaime Vengoechea MD
Rossana Sanchez, MD
Christine Tallo, MMSc, CGC
Hong Li, MD, PhD, FACMG
Raffay S. Khan, MD, MB, BS
Rebecca Markov
The following presenter from Emory University School of Medicine discloses the following:
Lora Bean, PhD, royalty(ies)/honoraria from ECL Genetic Diagnostic
All presenters are currently employed at Emory University; Emory Genetics Laboratory is a joint venture between Emory University and Eurofins
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