GeneDx Optional Rotation

Recently, I was honored to inaugurate the GeneDx optional rotation for the University of Pittsburgh Genetic Counseling program.  This rotation gave a tremendous amount of insight into the various roles a genetic counselor can play at a genetic testing company and how counseling skills can be used in alternative ways in the industry setting. 

The counselors organizing this rotation clearly put a lot of thought and care into providing a meaningful, hands-on, and varied experience.  The first week began with the Inherited Cancer group and an introduction to variant classification using the new ACMG guidelines.  

For the rest of the week, I was given a number of cancer gene variants to classify, which required an understanding of population databases, mutation databases, in silico models, functional studies and the ability to perform a thorough literature review.  The data gathered from these sources are then synthesized to determine a final classification for the variant.  

During the second week, I worked with counselors in Cardiology and Exome.  After being introduced to these programs, I continued to hone my ability to classify variants and also worked on crafting gene paragraphs as well as negative report writing.  

The third week was spent with Customer Service.  Over two days I observed the wide variety of tasks performed by Customer Service GCs such as fielding client questions by email and telephone, verifying that appropriate testing was ordered, flagging clients that may benefit from education services by the sales team, participation in the variant testing program, and opportunities for patient post-test counseling.

Throughout the rotation, I was also tasked with an independent gene vetting project.  I was asked to collect data that would aid in determining whether a new gene is ready for clinical testing or requires further research.  At the end of the rotation, I presented my findings to the members of the Inherited Cancer program.

Overall, this was an exciting and unique opportunity for an optional rotation that provided exposure to an area of genetic counseling that is experienced less often in the classroom and clinic-based rotations.

-Bess Wayburn, class of 2016