Elective Rotation: Differences of Sexual Development Clinic

Katherine Parks, class of 2024

I first became interested in assisting with the Differences of Sexual Development (DSD) Clinic when I was a GCA at CCHMC. Differences of Sexual Development (DSD) refer to a group of conditions involving atypical development of chromosomal, gonadal, or anatomical sex. I connected with the DSD Clinic’s GC and clinic coordinator Jodie Johnson to learn more about what role genetic counselors play in serving these patients. I was drawn to the complex social and scientific concerns that surround this clinic. 

I was able to be involved in the DSD team meetings, participate in the DSD clinic as well as the genetic counselor only clinic, and call out results. The DSD team includes behavioral medicine, endocrinology, gynecology, urology, ethics board, social workers and genetics. Prior to the monthly clinic, there is a large team meeting where all of the providers collaborate on how to best care for the upcoming patients. It was rewarding to be a part of a team that was so passionate about providing the best care possible for their patients. Each patient’s appointment was completely unique and presented their own complex emotional and scientific situations. Most patients saw all of the clinical members of the teams during their appointment at the DSD clinic. One case that stuck out to me involved a patient who was diagnosed with ambiguous genitalia at birth. The family was referred to the DSD clinic where we were able to coordinate genetic testing as well as a plan for long term patient care. While the family was understandably anxious, they seemed to be comforted by each provider they saw. It was rewarding to see all of the different providers come together and coordinate thorough and unique patient care and by the end of the appointment they seemed much more optimistic. 

This clinical rotation was valuable as I believe it allowed me to develop more skills that are critical for any genetic counselor. Like balancing clinical and emotional conversations with patients, discerning appropriate genetic laboratory/tests, and working as a member of a large multidisciplinary team. I was also able to better understand the role that genetic counselors can play in multidisciplinary clinics. Reflecting on my DSD clinical rotation, I am grateful for the mentorship Jodie was able to provide and the experiences that enriched my journey in GC graduate school. 

-Katherine Parks, class of 2024

Elective Rotation: Post-Exome Clinic

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.

Sarah Ricks

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.

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