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View Only-Mile-High Genetics: Adult Medical Genetics Cases
Hosted by the University of Colorado
About this course
The Adult Genetics Special Interest Group of the American College of Medical Genetics & Genomics is offering a quarterly live case conference series to discuss interesting, complex and/or challenging genetic disorders seen in adults. A team of genetics providers including clinical geneticists and genetic counselors from select host institutions will present 2-3 cases (as time permits) and lead a live discussion on issues involved in diagnosing and managing adults with genetic disorders. Genetic tests and their results and interpretation will also be reviewed along with issues regarding counseling for at risk family members.
The overarching goal of this educational activity is to create an awareness of genetic complexities observed in adult patients. It will also encourage the adult genetics community to work together towards diagnosis and management of the patient and learn from each other’s experiences.
Course Description

Overall Learning Objectives

At the conclusion of the series, participants should be able to:

  1. Recognize cardinal signs and symptoms of specific genetic conditions commonly seen in the adult genetics clinics.
  2. Discuss appropriate diagnostic tools and molecular testing strategies in adult patients with genetic conditions.
  3. Recognize challenges and limitations in ordering genetic testing in adults with known genetic conditions and become familiar with measures to overcome them.
  4. Describe the utility of whole exome sequencing in adults and its application in the care of the adult genetics patient. 



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


Education committee

Christian Schaaf, MD, PhD, FACMG- Baylor College of Medicine and Jan & Dan Duncan Neurological Research Institute, Houston, TX

Monica Giovanni, MS, CGC - Geisinger Health System, Brookline, MA


Adult Genetics SIG webinar workgroup

Fernando Arena, MD, FACMG-TX Dept of State Health Services

Shweta Dhar, MD, MS, FACMG – Baylor College of Medicine

Tanya Eble, MS, CGC – Baylor College of Medicine

Fuki Hisama, MD, FACMG – Univ of Washington, Seattle

Matthew Taylor, MD, FACMG – Univ of Colorado, Denver

Jaime Vengoechea, MD, FACMG – Emory University



Jane Radford, MHA, CHCP


Planning Committee Disclosures

Christian Schaaf, Shweta Dhar & Tanya Eble are currently employed at Baylor College of Medicine (BCM); BCM has a joint venture with Baylor Miraca Genetic Laboratories

Shweta Dhar is owner & co-founder of PanGenomics, India

Tanya Eble is a consultant for PanGenomics, India

Fuki Hisama is a consultant for Horizon pharmaceuticals

Matthew Taylor has Grant/Research Support; Genzyme/Sanofi, Shire Therapeutics, Amicus Therapeutics, Bristol Myers Squibb, Consultant; GeneDx

Rest of the planning members have nothing to disclose


Presenter Disclosures

Matthew Taylor, MD, PhD Director of the Adult Medical Genetics Clinic University of Colorado Grant/Research Support; Genzyme/Sanofi, Shire Therapeutics, Amicus Therapeutics, Bristol Myers Squibb, Consultant; GeneDx



Availability: On-Demand
Cost: ACMG Member: $0.00
Non-Member: $30.00
Postdoc/Trainee (M): $0.00
Postdoc/Trainee (NM): $30.00
Student (M): $0.00
Student (NM): $30.00
Credit Offered:
No Credit Offered

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