Student Work Position: Genetic Counseling Assistant for UPMC Hereditary GI Tumor Program

I work as a Genetic Counseling Assistant (GCA) for the Hereditary Gastrointestinal (GI) Tumor Program at Shadyside Hospital. Part of the responsibilities of my job focus on tasks that we will also be performing in clinical rotations. These tasks include completing patient intake forms prior to appointments, requesting pathology reports, and calling patients for a family history intake. My job also involves entering patient pedigrees into progeny and documenting genetic testing results in patient records and research study databases. I have additional responsibilities in several research studies, and for this part of my work I review consent forms, ask research survey questions, document patient records in research study databases, and research participant follow-up. Lastly, I have the opportunity to provide information and training to incoming students in clinical rotations and the GCA position.

My thesis for the genetic counseling program is related to my position. It is based on our research study that evaluates in-person genetic counseling vs. a pre-recorded video of the information covered in a genetic counseling session for patients newly diagnosed with pancreatic cancer. My thesis project will assess patient satisfaction and knowledge outcomes based on the service delivery model in which they were presented genetic testing information for pancreatic cancer. As part of the project, I attend the multidisciplinary pancreatic cancer clinic at UPMC Hillman and Presbyterian to recruit patients into my thesis study.

Working as a GCA for the Hereditary GI Tumor Program has allowed me to gain extra clinical experience that is valuable in my training as a genetic counselor. Throughout my first year in the genetic counseling program, my work position provided me an opportunity to translate counseling skills discussed in the classroom into practice and as a result, I felt confident going into second-year rotations. In addition, my experience has helped me gain important research and professional skills that will be vital in my career.

Mariele Anneling, Class of 2021

 

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

Student Rotation: Utilization Management at UPMC

Before I started my rotation with UPMC’s Utilization Management team, I was nervous. This was my first clinical rotation, and there’s always the fear of the unknown when doing something new. Looking back, I was initially worried that I wouldn’t do a good job, or I’d be unable to answer questions about a condition or testing technique in front of the counselor. After completing this rotation, I can confidently say that I did not need to be so anxious about the start of this rotation.

A few days before my rotation began, I was paired with a genetic counselor “buddy” who would guide me through everything from reviewing patient charts, assessing how appropriate specific testing is for a given patient, and to generally being my point of contact for the entire rotation. As soon as I met my “buddy,” I knew this rotation would be a great experience. On day one, I was able to view patient charts to gain a better understanding as to why one particular patient would receive one specific genetic test while another patient would receive a different genetic test even if they came in with the same concerns. As time went on, I became more confident in my abilities to analyze records and understand why a particular test was offered. Eventually, I met more genetic counselors who work in the Genetic Testing Clinic and are on the Utilization Management team. I was able to observe telemedicine cases, result disclosures, and even participate in cases by taking family histories.

I expected to see times where a testing review came in, where genetic testing wasn’t warranted or appropriate, and consequently, the UM team would have to tell a patient or provider that they couldn’t or shouldn’t have testing based on what’s seen in the patient’s chart. However, that was never really the case. More often, when a situation came up where the UM team thought that the testing ordered was not appropriate, we were able to have a discussion with the physician to talk about why he/she would like to order that specific test, or if a different testing option had been considered. The UM team wasn’t created to tell people “no,” it was created to help determine if the most appropriate test is ordered so that the patient receives the best treatment. In addition to reviewing testing requests, the UM team also helps educate physicians, nurses, and other healthcare professionals on why testing is being ordered, and what specific tests are the most appropriate for their patients, among other things. I developed a new appreciation for all the different things UM genetic counselors do on a daily basis.

I appreciated the flexible nature of the rotation and the variety of activities available to me. A great aspect of this rotation was that the counselors were fantastic about asking if I wanted to join in on a case with them. Additionally, I enjoyed getting to talk through example situations with the genetic counselors. They would ask questions like “so what would your next steps be?” or “and what if that test came back negative?” which really made me think through my responses. I knew that there was rarely a right or wrong answer to their questions, but I always appreciated their feedback.

This UM rotation was a great first-step into clinical rotations because you end up seeing a little bit of everything. In this rotation, you have to think critically about many different aspects of testing, and sometimes come up with creative solutions to best help the patient, but you have an excellent team of GC mentors who help you along the way. The only thing that could have made this rotation better would be if it were longer!

Michael Gosky, class of 2021

Coping with COVID-19

Navigating life in the midst of the global COVID-19 pandemic comes with many challenges. Our current students share some strategies they have used to cope with social distancing during the pandemic.

"I really miss being with my family and friends so social distancing has been a struggle. I’ve been watching lots of comedies (Bob’s Burgers, The League, Avatar: The Last Airbender) to lift my spirits. I added a Couch 2 5K app to motivate me to go jogging (update: I have not stuck with it). Every day I try to read and do a puzzle. The brightest part of this time is snuggling with my cat Anastasia and connecting virtually with my friends."

-Chelsey

Ana is a hide and seek expert

I had just opened this puzzle and it was missing a piece!

"The silver-lining of COVID-19 for me is the amount of time I’ve been able to spend with my family. All of us are back home and work during the day, but we get to spend a lot of time together during the evenings. Board games are making a comeback! Zooming with my classmates regularly has also helped to brighten my days, whether we are doing homework together, working out, or having a happy hour. This has all definitely made me appreciate the little things!"

-Megan

"It’s difficult to work at home, and especially to see others so infrequently - I’ve been joking lately that the dripping sink and humming refrigerator have become the background noise in my brain. Outside-time has been my major coping strategy: at the end of the day, my partner and I go for a walk in the neighborhood (I’ve developed some major garden envy!) or drive to a regional park for a longer hike. I’ve also been appreciating weekly trivia over Zoom, with my friends in Minnesota and Japan. As before quarantine, Friday night take-out pizza from Pastoli’s is the highlight of the week."

-Madeline

"I’ve been keeping myself busy within my home. I watch movies, read books, watch tv shows, and work on schoolwork. Keeping my mind busy allows my mind not to go into the “What Ifs” of the current situation. I also walk around my neighborhood with my mom to get fresh air and sunlight." 

-Haley

"It has been a difficult past few months, but we’re all doing the best that we can. Frequent phone calls and video chats with friends and family have kept me grounded. I have focused on physical activity as a way of alleviating stress. I came across a book a few months ago called “60 Hikes within 60 miles of Pittsburgh”. It has been a lifesaver - anytime I am feeling uncertain of what to do, I simply get in my car and drive to the next hike on the list. I’ll have to figure out what to do with myself once I finish the list; it’s only June and I’m more than halfway through!"

-Ravella

Slippery Rock Creek

I also started a small windowsill garden with herbs and other plants (and some colorful painted rocks for fun).

My partner and I replaced the exhaust system in our car.
It took a while, but now it’s shiny and new!

Student Rotation: Agnes Ginges Centre for Molecular Cardiology at Centenary Institute in Sydney, Australia

Since beginning the process of researching and applying to genetic counseling programs several years ago, I knew that I was interested in a rotation experience abroad. With so many genetics professionals and teams working around the world to better understand genetic conditions and how to best care for individuals and families impacted by these conditions, I was very eager for an opportunity to learn more about how clinical and research aspects of genetics are approached outside of the United States. 

With a particular interest in cardiovascular genetics and research, I had the opportunity to spend two weeks with the team at the Agnes Ginges Centre for Molecular Cardiology at Centenary Institute in Sydney, Australia for my optional rotation. 

Centenary Institute in Sydney, Australia is devoted to cardiovascular, cancer, and inflammation research.

The Molecular Cardiology team is made up of genetic counselors, physicians, and researchers devoted to gaining a better understanding of the mechanisms, psychosocial implications, and management of inherited heart disease. During my time in Sydney, I worked closely with the team and learned about the variety of projects they are working on – from the laboratory, clinic, and psychosocial angles. I was able to attend many meetings and participate in discussions about current and future projects.

One of the main goals of my optional rotation was to learn more about genetic counselor roles in a research setting. The genetic counselors at Centenary are responsible for seeing patients in the inherited heart disease clinics, as well as research coordination. While I was unable to attend a clinic prior to leaving Sydney, over the two weeks I was there, I was able to speak with the genetic counselors and learn more about the Australian healthcare system, which differs in a number of ways from what I have experienced in the United States, as well as their clinic procedures, patients, and genetic testing processes.  

A good portion of my time was spent learning about variant curation. With a variety of research projects and registries available to patients and research participants with inherited heart disease, the Molecular Cardiology team coordinates many types of genetic testing and sequencing and is responsible for determining pathogenicity of variants identified through research endeavors. During my rotation, I was responsible for helping to classify research variants by using a variety of population databases, published literature, and ACMG variant classification criteria to determine if the genetic change(s) identified in an individual could be considered disease-causing and related to their clinical presentation. Throughout my training at Pitt, most of my experience with genetic variants has been in a clinical setting, explaining different types of result classifications to patients. This experience with variant interpretation was very valuable to my training and helped me better understand the effort that goes into determining pathogenicity of a variant prior to disclosing a genetic test result to a patient or research participant.

While at Centenary, I also had the opportunity to attend a genetic counseling clinical supervision meeting. Genetic counselors from multiple practice areas meet monthly to discuss difficult cases and provide peer support as part of a requirement for maintaining genetic counselor certification in Australia. In addition, I was able to meet genetic counseling students from the local training program in Sydney who were at Centenary as part of their clinical rotations. It was interesting to learn more about training programs in Australia and how they differ from our program at Pitt and other programs in the United States.

While I was focused on learning the most I could during my time in Australia, I also made sure to take some personal time to explore the wonderful city of Sydney. I was able to visit the harbor and the Sydney Opera House, the beautiful Blue Mountains National Park, and yes, I even met a koala!

Despite having to cut my rotation short due to concerns surrounding COVID-19, overall, I had a wonderful experience. I learned a great deal about the genetics of inherited heart disease, and was able to get some insight into the seemingly endless possibilities for genetic counselor involvement in a research setting. My newly acquired variant interpretation skills are a nice addition to my genetic counselor toolkit for the future.  This rotation served as an excellent finish to my rotation training and a nice transition into my new position as a clinical and research genetic counselor.

My sincerest thanks to genetic counselors Laura Yeates and Jodie Ingles, as well as all of “Team Cardio” at Centenary Institute, for welcoming me to Sydney and facilitating a fantastic learning experience!

Alyson Evans, Class of 2020

Advice for Clinical Rotations

Congratulations to the class of 2021, our new second years, for completing their first year of the program! While they were scheduled to start clinical rotations this month, their schedule has changed due to the pandemic. Our recent graduates left them with some advice for rotations, which will hopefully start in a few months.

"Congrats on starting rotations! My biggest piece of advice is to be flexible.  In the real world, life can throw some curveballs at you.  Being flexible not only in a session, but also outside of the clinic, is the key to success.  Be prepared, be willing to jump in to try new things and welcome changes with a smile and a positive attitude!  Your ability to adapt will take you a long way.  And enjoy it- it flies by!"

"You will not grow if you are not uncomfortable. If something feels scary or daunting, do it anyway. The whole point is to practice, learn, and build confidence. You’ll have your supervisors as a guide if you get stuck, and they are all very accomplished, knowledgeable, and supportive. Lean on them and your classmates as you go through this journey together. It’s okay to let someone know that you need help or want to work on something specific. That being said, you’re all capable, strong individuals and you will all be great assets to the field one day. It all just starts with a little discomfort."

"Starting rotations can be overwhelming, exciting, and frankly a little scary...but you’ve done the work to get here and now you get to try it out. I’ll echo my classmates and say that it’s important to push yourself out of your comfort zone. It doesn’t have to be by much, but try to take on a bit more each session and you’ll be surprised how soon you’re running the whole session. You’re all going to be great counselors and Pitt has amazing GCs to mentor you along the way. Good luck and congrats on completing the majority of your coursework!"

"Congrats on finishing your first year! Although starting rotations can be nerve wracking, this is when you finally get to do what you’ve been working towards. My biggest piece of advice is to actively challenge yourself and use your supervisors’ expertise to figure out the best way to do that. Tell your supervisor what parts of sessions you’ve already tried and how you felt about prior sessions, and ask what the supervisor recommends you try in an upcoming session based on that. Time management is also important, especially because you want to get enough sleep the night before seeing patients. Don’t forget to bring snacks and lunches too, as needed (you may be surprised how easily you forget to eat). Share your experiences with your classmates and program directors; their support is crucial. Most of all, enjoy the relationships you form with patients and supervisors and don’t beat yourself up when a session doesn’t go as planned; it’s a necessary part of the learning process."

-The Class of 2020