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.
This session will feature three cases: two cancer cases and one non-cancer related case. There will be a presentation on OTC deficiency in females and the two cancer cases will be atypical presentations of GI polyposis and constitutional MLH1 promoter hypermethylation in Lynch Syndrome.

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

Session Learning Objectives

At the conclusion of this session, participants should be able to:

1. Discuss a case of late-onset presentation of a female with an unknown X-linked inborn error of metabolism.
2. Determine appropriate metabolic diagnostic testing for an adult patient with a suspected inborn error of metabolism.
3. Identify constitutional MLH1 promoter hypermethylation as a possible etiology of Lynch Syndrome.
4. Explore other diagnoses when there is an atypical phenotype.

 

 FINANCIAL DISCLOSURES

Planning Committee

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

All presenters are currently employed at Baylor College of Medicine (BCM); BCM has a joint venture with Baylor Miraca Genetic Laboratories

Shweta Dhar, MD, MS, FACMG Dr. Dhar is owner & Co-founder of PanGenomics, India

Deanna Erwin, MS, CGC – Nothing to disclose

Tanya Eble is a consultant for PanGenomics, India

Dihong Zhou – Nothing to disclose