Student Rotation: UPMC Ophthalmology Clinic

    As a second-year genetic counseling student, I would have started clinical rotations over the summer but due to COVID-19 concerns, we had remote rotation opportunities. My remote opportunity was a virtual 3-week experience at the UPMC Ophthalmology Clinic. The rotation consisted of two retinal dystrophy clinic days per week (attended remotely), one journal club, one variant case conference, and one genetic testing clinic day, and these opportunities provided a great learning experience. To gain knowledge of retinal dystrophies and relevant genetics regarding the eye, the video recorded lectures and journal articles were excellent literature tools. The videos were well organized and provided ample pictures of the retina representing different retinal diseases. One assignment that I completed was to fill in blank spaces that corresponded to different anatomical areas of the eye and retina. This assignment allowed me to gain a general understanding of eye and retina anatomy. As a result, I could gauge how a mutation in a gene responsible for a specific retina area could cause disease symptoms. If I had any questions, my genetic counselor supervisor, Michelle, would provide me with the answers and relevant information.

    I was able to observe patients virtually during the clinic days. Even though I could not interact with the patients due to the pandemic, I was able to see and hear clearly. During the clinic, Michelle and I would discuss each case and go through medical images of the eye, specifically of the retina. She would have me look at the literature for specific conditions when a patient was coming in with a syndromic condition, such as Usher syndrome, and then we would talk through what I learned. During the discussion, Michelle would ask me my thoughts and challenge me to think creatively and critically. This allowed me to consider how I would handle the session and understand which testing methodology (i.e. panel vs. single site) to choose for each patient.  I also had the opportunity to outline a genetic counseling session for the retinal dystrophy clinic. I went through my outline and Michelle helped me tweak my outline to show how a clinic session was different than a general genetic counseling session. It allowed me to tailor my thinking and how to adapt a general session to a more focused clinical setting. Going through the genetic testing results and interpretation was also helpful in understanding genotype-phenotype relationships. For example, Michelle and I discussed whether the result could or could not explain the patient’s phenotype.  In the genetic testing clinic, I was able to observe Michelle doing pretest counseling. I was able to see her modify her pretest counseling based on the client's needs and knowledge of genetics concepts.

    Another aspect of the rotation that I liked was the journal club and the variant case conference. The journal club helped with my professional development and presentation skills. Giving presentations are not my forte so being able to practice enhanced my confidence in this area. The variant case conference focused on challenging results, and this strengthened my interpretation skills. It was helpful for Michelle and Hannah to go through how to evaluate a variant when the lab did not provide an in-depth interpretation.

     I liked all aspects of this rotation. Given the pandemic, our rotation schedule had to be adjusted and I thought the opportunities available were great. The virtual aspect went smoothly, and Michelle and I maintained strong communication with each other. Overall, I enjoyed my time in the Ophthalmology clinic and learning about the genetics of the eye. I will use the constructive feedback provided by Michelle in my future rotations.

Haley Kulas, Class of 2021