Presidential Address of the in-coming Society president Brenda Finucane highlighted “a whole group of genetic counselors at the Cleveland Clinic’s Genomic Medicine Institute” for innovative clinical practice, the breadth of practice, research, utilizing IT and positive energy. CPGH genetic counselors garnered a record number of presentations, including a plenary presentation, 5 preferred platform presentations, 4 poster presentations and an educational session.
Plenary Presentations
Jessica Mester – “Comparison of Genetic Counselor Time Investment Utilizing Coupled and Uncoupled Practice Models: Final Results from the Cleveland Clinic General Genetics Clinic Time Study” – Best Abstract Award Recipient
Oral Abstract Presentations
Amy Shealy – “Novel Microduplication of 12q13.12 Including TUBA1A and DHH Detected in a Boy with Abnormal Brain MRI Findings, Cryptorchidism, Urethral Stricture and Pubertal Delay”
Marissa Smith – “Expanding Genetic Counseling Services to an Executive Health Program: Identifying Risk for Genetic Disease in a Low-Risk Population”
Jessi Moline – “Approach to Systematic Screening of Endometrial Cancers for Lynch Syndrome: the Cleveland Clinic Experience”
Brandie Leach – “A Time Study of Genetic Counselor Only versus Traditional Care Genetic Counselor/Geneticist Patient Care in a Cancer Genetics Setting”
Jill Polk – “Ethico-legal Obligations in Hereditary Diffuse Gastric Cancer Kindred with Novel CDH1 Mutation”
Poster Presentations
Allison Schreiber – “CHD7 Variants in Two Families with Evidence of Parent-to-Child Transmission of CHARGE Syndrome”
Patty Arscott – “Genetic Counseling Dilemma: Multiple Gene Variants Identified Through Genetic Testing for Hypertrophic Cardiomyopathy”
Christina Rigelsky – “Clinical Features of Three Patients with Vascular Ehlers-Danlos Syndrome as the Result of COL3A1 Functional Haploinsufficiency with Stable mRNA but Unstable Protein”
Rebecca Cook – “Assessing the Utility of Four Educational Videos Concerning Alpha-1 Antitrypsin Deficiency” and “Guidelines for Advocacy Organizations Considering Establishing a Registry or Biobank”
Educational Breakout Session Presentations
Meg Doerr – “Using Information Technology to Facilitate the Cancer Genetic Counseling Process”