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.

Session Description:
During this session presented by the Adult Genetics Special Interest Group of the American College of Medical Genetics and Genomics, genetic experts from University of Washington will discuss clinical management considerations of three cases with complex medical history:
• Patient with cerebral cavernous malformations, Factor V Leiden and coronary artery disease
• Patient with neurofibromatosis type I and breast cancer
• Family with Lynch syndrome and early onset brain cancer

Overall Learning Objectives

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

Session Learning Objectives

At the conclusion of this session, participants should be able to:
1. Recognize signs and symptoms of genetic conditions.
2. Recognize challenges in management of patients with cerebral cavernous malformations and cardiovascular disease.
3. Describe the breast cancer risk associated with NF1.
4. Discuss challenges of genetic counseling in families with hereditary cancer syndromes.

Financial Disclosures:
Planning Committee
• Monica Giovanni, MS, CGC, Geisinger Health System, Brookline, MA
Nothing to disclose
• Liming Bao, MD, PhD, FACMG, Dartmouth-Hitchcock Medical Center
Nothing to disclose


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
• Claudia Barnett
Nothing to disclose

Faculty and Disclosures – University of Washington
• Sirisak Chanprasert, MD
Medical Genetics
Dr. Chanprasert has no financial disclosures. He has the following off-label disclosure: The use of IV Arginine to treat acute mitochondrial decompensation
• Michael Dorschner, PhD
Assistant Professor of Pathology,
Nothing to disclose
• Emily Malouf M.G.C., L.G.C
Genetic Counselor, Instructor
Nothing to disclose
• Lauren N. Puryear M.S.
Genetic Counselor, Instructor
Nothing to disclose