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.
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Haley Kulas, Class of 2021
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