One of the things that I appreciated about my clinical
training at Cincinnati Children’s was the wide variety of specialties and clinic
structures I experienced throughout my rotations. In my second year, I had the
opportunity to design an elective rotation, and I chose to design a rotation in
the Post-Exome Clinic. This clinic primarily sees patients who are undiagnosed
despite having had extensive genetic testing, such as exome or genome
sequencing.
I chose to design this rotation because I wanted to learn
more about evaluating and supporting patients who remain undiagnosed after
receiving comprehensive testing. In my previous rotations, I had done a lot of
pre-test counseling, but had fewer opportunities to return results and evaluate
if additional testing would be recommended. I also wanted to learn more about
less frequently ordered clinical tests, research testing options, and unique
psychosocial considerations for patients and families without a concrete
diagnosis.
Sarah Ricks
I got to work with both a fantastic genetic counselor and a wonderful geneticist during this rotation, and I particularly enjoyed observing how they worked together. During the monthly Post-Exome Clinics, I observed and participated in patient appointments with my clinical supervisor. In between clinic dates, my supervisor and I met weekly to review and discuss topics of interest, including a previous student research project which interviewed families seen in this clinic about their experiences during their diagnostic odysseys. Additionally, I participated in exome variant review with my clinical supervisor, which gave me additional insights into how exome testing is interpreted in our genetic testing laboratory. Finally, I also reviewed recent exome reanalysis cases performed in our genetic testing laboratory at Children’s, and analyzed what specific factors led to a diagnosis during this reanalysis.
I am grateful that I had the opportunity to design this rotation! I loved choosing and working with my clinical supervisor. I learned so much from our weekly discussions, where we talked about testing options that I’d not previously seen ordered in clinic, such as RNA sequencing and research options. I also enjoyed analyzing factors that led to diagnosis during reanalysis, as this shaped my perspective on the utility of reanalysis and the circumstances where it may be most effective. I appreciated the opportunity to better understand the experiences of patients and families who undergo comprehensive testing but are still searching for an explanation or a name to put with their condition. This elective rotation complemented the skills and perspectives that I experienced in my other clinical rotations, and I am glad that I had the opportunity to tailor a rotation to my specific interests and goals.
-Sarah Ricks, class of 2024
