Student Experience: Clinical Observations

The first year of the Pitt genetic counseling program is centered around coursework to help prepare us for clinical rotations in the second year; we attend lectures, take exams, and complete a variety of assignments. While the comprehensive classes in the Human Genetics Department are a huge strength of the Pitt Genetic Counseling Program, ultimately we have chosen this field because we want to work with patients. When faced with five final exams in one week, it’s easy to forget why we spend so much time in the classroom. During our first year of training, clinical observations serve as a much-needed reminder that we won’t be taking tests forever.

Clinical observations give first-year students a chance to shadow genetic counselors, familiarize themselves with the clinics where they will see patients during their second year, and to interact with patients. My classmates and I observed the three main specialties of genetic counseling (cancer, pediatrics, and prenatal), as well as two specialty clinics (cystic fibrosis and muscular dystrophy).

Although we only observe in these clinics, there was plenty of opportunity for lovely interactions with patients. An adorable toddler hugged me in pediatrics. I bonded with a young girl in muscular dystrophy clinic over the dresses we were each wearing, which looked similar. She was just as happy as I was that it was finally warm enough outside to wear a dress. Several prenatal and cancer patients asked me about my experiences in graduate school and how I became interested in genetic counseling.

Shadowing in clinic reminded me how important the learning in the classroom is. I sat down with one of the genetic counselors to look up a patient’s variant in ClinVar (an online database for genetic variants) so we could explain the significance to the family. A pediatric patient had been diagnosed with a de novo variant that caused an autosomal dominant condition, but no one had ever explained to the family these test results and how they might impact reproductive decisions. The parents had been asked questions for years about the inheritance pattern of this condition and how it is passed down through families. They had no idea how to answer these questions. The genetic counselor made a slide set and took the time to sit down with them; they were grateful to have someone take the time to focus on their situation and explain everything. By the end of the session, I felt confident they could answer inheritance questions from friends and family.

Clinical observations also reminded me that genetic counselors have a wealth of information available at their fingertips. Although I memorize small details before taking an exam, in clinic I will have access to the internet. For example, a couple was seen in prenatal clinic because a relative was diagnosed with a rare condition. The genetic counselor had never heard of the condition, but immediately researched it and learned that the condition is autosomal dominant and usually de novo. Although no definitive statement could be made without genetic testing results for the relative, the research provided the information for the genetic counselor to determine that this couple’s risk of having a child with the same condition was most likely close to zero.

Finally, spending time in clinic gave us the opportunity to become familiar with our future training sites. As someone who struggles with directions, I rarely remember where everything is the first time around. But seeing where the bathrooms and the cafeteria are, or learning that the office suite is one giant circle, increases the chances that I will find my way next time.

Ultimately, we have chosen genetic counseling because we want some amount of patient interaction. Clinical observations provided me with the opportunity to engage with patients and reminded me that my coursework was preparing me for the start of the main clinical rotations.

 Claire McDonald, class of 2020

From Bench to Bedside: Translational Research and Genetic Counseling

Last year, when I ranked genetic counseling programs, I considered each program carefully. I thought about what department the program was part of, the logistics of coursework and clinical rotations, distance from home and of course, finances. The opportunity to pursue a work-study position while attending Pitt’s genetic counseling program was one of many features that drew me to the program. Having worked in an academic lab for the last few years, I was concerned I was “behind” on hands-on clinical experience, so I spent my first few months in Pittsburgh adjusting to being back in school and looking for genetic counseling assistant jobs. I also decided to reach out to Dr. Kelly Bailey, a physician and researcher at the Children’s Hospital of Pittsburgh (CHP). We were introduced by a mutual colleague who knew we shared an interest in sarcoma and I was hoping she could help me navigate the sarcoma/cancer clinic setting in Pittsburgh.

Dr. Bailey’s research focuses on Ewing sarcoma, a rare childhood bone and soft tissue cancer. She is also interested in using patient-derived primary tumor cells as a tool to investigate novel therapeutics and tumor biology. 

Children's Hospital of Pittsburgh

When I met with her initially, Dr. Bailey put me in contact with the physician and genetic counselor who run the Pediatric Cancer Predisposition Program at CHP. I asked if they were looking for a student to help with any aspect of the clinic but alas, I was out of luck. I did, however, begin working with them on a thesis project. While I had set out to find a job, a thesis was the next best thing and I mentally checked it off my list.    

Time passed, classes and assignments demanded my attention and I stopped looking for work. Then one day I found myself back in Dr. Bailey’s office. She had a new clinical project in development that was also interesting from a genetic counselling perspective. She offered me a position in her laboratory as a research assistant and I accepted.

As a research assistant, I work on multiple projects in the lab using molecular biology techniques that are also used in clinical genetics laboratories. Currently, I’m working on a project that involves RNAseq of patient tumor samples to determine the expression patterns before and after treatment with a novel drug. The goal of a project like this is to discover the mechanisms by which drug treatments or specific genetic mutations lead to tumor cell death. If we can elucidate these mechanisms, we can design novel cancer treatments.

With the exception of sarcomas diagnosed in patients with Li-Fraumeni syndrome, sarcomas are not typically considered hereditary tumors. However, as the field of genetics expands, and more paired patient tumor and germline DNA are sequenced, we are learning more about what genetic changes drive these rare tumors. Recently, we reported a patient with Ewing sarcoma who has a germline mutation in a gene called BARD1 – one of BRCA1’s binding partners (Venier, R.E. et al., 2019. Pediatr Blood Cancer PMID: 31157509). Further, during the genetic counseling session, we discovered a paternal history of early onset breast cancers. While this is just the tip of the iceberg, there is evidence from other groups that suggest Ewing sarcoma may have a higher hereditary component than originally thought. Being a part of this project has been exciting; it shows the importance of collaboration between multiple disciplines including oncology, genetics, pathology, and research. Case studies can provide a “jumping off point” for additional projects in the lab and in the clinic that aim to further understand the potential hereditary component of Ewing sarcoma and other cancers. 

My laboratory experience has provided me with a unique perspective. I have a detailed understanding of the molecular genetic techniques used to facilitate clinical tests because I’ve designed and completed the experiments myself. It’s also valuable to have something familiar to do at work (extract RNA, take care of cells, run westerns), especially during the first few months when I was still adapting to a new city and being back in school. Now that I’ve begun my clinical rotations, I’ve discovered that I’ll have no problem getting that hands-on clinical experience that concerned me. This work position is providing a fantastic opportunity for me to bridge the gap between the bench and bedside. In my experience, not only does translational research bring cutting edge science to the clinic, but it motivates multidisciplinary teams to strive to find the best treatments for their patients. Working with an incredible physician/scientist like Dr. Bailey as well as her colleagues at CHP has been a great experience and I’m excited for the next year of research!

Rose Venier, Class of 2020