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.
During this session, three cases of disorders with presentation in adulthood will be discussed. A hereditary cardiac arrhythmia with a challenging phenotype will explore the difficulties in assigning a diagnosis after a pathogenic variant is identified. A case of inherited melanoma will discuss novel inherited cancer syndromes that are being discovered as next generation sequencing advances. The third case involves the diagnosis of a treatable metabolic disorder with an unusual presentation in adulthood.

 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:

1. Recognize the difficulties in assigning a specific phenotype to a known pathogenic mutation in sudden cardiac death
2. Review the clinical differential diagnosis for sudden cardiac death
3. Describe the challenges in diagnostic testing for hereditary melanoma
4. Describe the counseling considerations of identifying a mutation in a predisposition gene
5. Recognize alert signs that can point to a metabolic disorder in an adult
6. Review the clinical presentation of cobalamin deficiencies

 

 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