Assessing the Role of Clinical Genetic Counselors in Genomic Variant Evaluation
Karen E. Wain, Erin Rooney Riggs, Christa Lese Martin
Geisinger Health System, Danville, PA
The practice of genomic variant interpretation has rapidly evolved in recent years due to technological advances in genome-wide copy number and sequence analyses, an increase in clinically reported genomic variants, newly available population and patient databases, the wide adoption of data sharing, and updated practice guidelines. These changes have led to educational resources, such as webinars and on-line courses, to help clinicians understand new variant interpretation practice and incorporate the use of these genomic resources into patient care. However, there is little data to indicate how clinicians are using variant interpretation resources and principles in everyday clinical practice. To begin to explore variant interpretation practice amongst clinicians, we carried out a descriptive study using a semi-structured focus group discussion guide with genetic counselors (GC) at Geisinger Health System.