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
