Student Spotlight: Elizabeth Bombal

 

    In the United States, a rare disease is a condition that affects fewer than 200,000 people. As one can imagine, having a disorder that affects so few individuals can come with many challenges. A common challenge those with rare disorders encounter is difficulty in finding a diagnosis for their symptoms. The journey to a diagnosis, often referred to as a diagnostic odyssey, can take years for these individuals. Another challenge often encountered is a lack of appropriate resources available to help patients understand and manage their diagnosis. Genetic counselors can be instrumental in assisting patients with rare diseases throughout their diagnostic odyssey and in ensuring they understand the often complex and overwhelming information that accompanies that eventual diagnosis.

 

    When I started thinking about my genetic counseling thesis project this past year, I knew I wanted to focus on the rare disease space. After much brainstorming and discussion with faculty and classmates I narrowed down my topic to looking at education materials for a rare genetic condition called Hajdu Cheney Syndrome. There are currently fewer than 100 people worldwide who have been reported as affected with this syndrome in medical literature. Characteristic features of the condition are osteoporosis (often at a very young age) and acro-osteolysis. Many other manifestations can be seen, including wormian bones, platybasia, scoliosis, hypermobility, heart defects, and polycystic kidneys. I plan to evaluate the extremely limited existing syndrome-specific educational materials for readability, survey patients to better understand their educational needs, and create an easily understandable educational resource for patients and their families. Working on this project, I hope to gain further insight into patient experiences learning about their diagnoses. I also think this will be a great opportunity for me to practice important genetic counseling skills such as conveying genetics concepts to the patient population. While I still have a long way to go in completion of my thesis project, I look forward to helping this patient population.

-Elizabeth Bombal

Student Spotlight: Maria Rhine

 

        The day I graduated from the University of Pittsburgh in 2019 was also the day I received a job offer from PreventionGenetics in Wisconsin to be a full-time genetic counseling assistant (GCA). I knew that I wanted to be a genetic counselor and had directed my undergraduate education towards that goal. I also knew the rigors and competitiveness of the genetic counseling admissions process. During the fall semester of my senior year, I applied to a few graduate schools but did not receive any interviews, so I became committed to spending my gap year as a GCA. I believed that was the experience I needed to apply the next cycle, and I had time during my spring semester to apply for any and all positions that became available. I was determined and I didn’t let distance limit me. I received interviews for positions in Utah and New York City and Texas and Wisconsin. I was incredibly excited to receive my offer from PreventionGenetics, so after discussing with my family and making an extensive pros and cons list, I decided to pack up my life and move to Wisconsin. As I’ve met more people in the genetic counseling field, I know I am not alone in this experience; I admire all of the applicants who have uprooted their lives or challenged themselves to take on a new role or continued to push themselves after an unsuccessful round of applying – all to follow their passions towards becoming a genetic counselor.

 

At PreventionGenetics, I was introduced to the laboratory world of genetic testing; I spent time answering phone calls and emails with questions about testing strategies, costs of tests, and sample collection. I also got experience with viewing genetic testing reports and assisting with report writing. I feel like all of these responsibilities added to my knowledge of genetics and genetic testing and helped me become a successful applicant for GC school. Reflecting back on my decision, I am so glad I decided to take the job and spend my gap year as a GCA.

 

            My decision to move across the country ended up paying off in a big way. I worked hard and will say that getting into Pitt for genetic counseling school has been one of my greatest achievements. I was so excited to start graduate school and return to the city that I love. I took some time off from my job at PreventionGenetics to get adjusted to school, which I think ended up being the best decision for me. Once I was organized and acquainted to graduate school life, I was able to restart as a part-time genetic counseling assistant. My responsibilities changed from clinical tasks to abstracting clinical notes for exomes. This new role has helped me gain more experience reading clinical notes and has added to my knowledge of medical terminology. I think having this position has helped me in my second year as a GC student as I am transitioning to rotations and reading through medical records regularly. Having a part-time job while in graduate school is definitely a major challenge, and my best advice is to trust yourself and know your limits. Overall, taking a genetic counseling assistant position has helped me get closer to my goal of being a GC. I am grateful to PreventionGenetics for the opportunity, and I am also grateful to have a work position that adds to what I am learning during my time in Pitt’s genetic counseling program. 

-Maria Rhine

Student Spotlight: Pymatuning Retreat

 

This past weekend we got to join students and faculty from the Human Genetics department for some outdoor fun at the Pymatuning Lab of Ecology! Each fall the department hosts this retreat for students, faculty, and staff to come together as the new academic year begins. Generally this retreat goes from Friday to Sunday, with guests staying in the cabins and dorms at the ecology lab overnight. Every year a theme or topic in the field of genetics is chosen, and there are presentations given by guests and professors on that selected topic. After the studious activities, there is always time for kayaking, games, and smores by the fire!

For the past two years, though, the Pymatuning retreat has looked a bit different. Last year the event was held over Zoom, as were most things during the height of the pandemic. My classmates and I were bummed that we weren’t able to partake in the normal retreat experience that year. However, we were excited to learn that this year we could have a (modified) in-person retreat! Due to Covid, the overnight options were limited, but many people simply drove up for the day. In addition, we were not able to bring in a guest speaker this year, so the retreat was purely focused on getting to know each other and having fun outdoors! Given how isolating the pandemic has been for many people, this focus on socializing seemed quite fitting. Our Saturday was filled with boat trips, volleyball, corn hole, and exhibitions to see the famous giant carp! Luckily the weather cooperated, and we were able to spend the entire day outside in the sun. This was the first time in my career as a graduate student at Pitt that I was able to not only see my own classmates offline, but to finally meet faculty and students from other degree programs face to face! Though our experience has been far from normal, I think I can speak for all of us when I say that we are so grateful to have had this opportunity to spend time with our wonderful department!

 

-Savannah Binion

Student Spotlight: Balancing Classes, Rotations, and Thesis

 

The start of the semester can be a busy time with figuring out classes and getting into a new routine. It can be even more stressful when adding clinical rotations to your schedule. I find it helpful to have certain days designated for clinic or class to help my mind focus. Some days you might have clinic in the morning and class in the afternoon, so it is important to be flexible and stay on top of assignments. I also find it beneficial to write down due dates ahead of time in order to stay on top of things. Planning to finish assignments before the due date also provides a built in extension. I find it very helpful to have a designated time to work on certain assignments. You can also have study dates with classmates as a designated time to go over assignments and get moral support when stressed. Study dates also allow you to catch up with friends and get clarification on assignments or class topics. Balancing classes and rotations is a challenge for everyone, so don’t be afraid to lean on your classmates and ask for tips that have helped them.

 

              The most important thing to remember is you are not alone in feeling stressed. Staying organized, being flexible, and communicating are important characteristics to have to make you as successful as possible. There are resources and service to help with mental health and writing assignments. The Disability Resources and Services is available to help provide accommodations. The writing center is available to help with class assignments and thesis projects. Your clinical site supervisors, program directors, and professors are also great support systems and can provide additional resources.

-Haley Soller

Student Spotlight: Choosing Your Thesis

 

From the moment I interviewed for a genetic counseling program, the idea of working on a thesis was at the front of my mind. Knowing that at some point you’ll write a paper that’s likely to be the biggest paper you’ve ever written can be daunting to think about. As your time through school progresses, you’ll find that some of your classmates know the topic they would like to research, and some have absolutely no clue. Remember that both of these scenarios are totally fine! I was lucky enough to know what topic I wanted to focus on, but how do you get started on finding ideas if you don’t already have one? I can offer three main bits of advice: 1) make yourself a small note whenever you think something is interesting; 2) talk to your classmates as early as you can; and 3) begin talking to the genetic counselors at your observations and rotations.

When I was trying to think of ideas for my practicum (something specific to the MPH program) I found it very helpful to jot down quick ideas or facts I found interesting that we covered in classes. My computer screen at home was covered in sticky notes of general ideas that I wanted to look into later. I think this is helpful because it makes you start to think about what actually interests you. You’re never going to be able to write an entire thesis on a topic that you don’t find interesting. Even if you don’t end up using one of those ideas, it may be helpful in at least narrowing down what area of genetic counseling you’d like to study with your thesis. Talking to your classmates and discussing thesis topic ideas early on can also be incredibly beneficial. It may feel intimidating at first to hear that some people already have their exact idea, but it can also be helpful to hear what other people are studying because it may spark some ideas for you, or it’s possible someone may have multiple ideas and you’re able to look into an idea they decided not to pursue, or they may know of research ideas that local genetic counselors have mentioned would be good projects for students. That leads me right to my third piece of advice. Talk to your genetic counselors while you’re on observations and rotations. Chances are, they’ve thought of something they think would be an interesting topic for students and they may be willing to share. I work as a GCA in the Division of Genetic and Genomic Medicine at Children’s and over the past few years I’ve heard many counselors mention ideas that they would be happy to explain to students or connect them with the appropriate people if the student wanted to work on the project.

Starting your thesis can be scary. Even when you have an idea, it still takes time to narrow it down to a specific research question. Starting to think about ideas early and using some of the tips I mentioned above will hopefully help to move things along more smoothly and make the process a little bit more manageable. Good luck!

-Julia Knapo

MSGC, MPH Student

Student Spotlight: Natalie Tri

 

Everyone who is interested in the field of genetic counseling knows how competitive the graduate programs are. Over the years, it has been increasingly more difficult to apply and get into grad school directly out of undergrad. Many applicants are having to find work related to the field for a couple years after school to help build their applications up. I was one of those students who had attempted to apply to grad school straight out of undergrad and did not even get so much as an interview at any of the schools I applied to.

Afterwards, I started to look for work in the field and learned about a genetic counseling assistant position at Allegheny Health Network. I started as a GCA in July of 2018 and learned that I was the first GCA the program had ever had. This was a really cool experience to be a part of because not only did I get to grow my own skill set and learn more about the world of genetic counseling, but I got to shape the future of the genetic counseling assistant position. With a second GCA who joined, I supported six genetic counselors. As a GCA I got to learn more about the full experience of being a genetic counselor. Genetic counselors are not only responsible for seeing patients, but there is a whole host of additional responsibilities including putting in genetic testing orders, verifying insurance claims and getting insurance authorization, and tracking down old patient and family records. This work is what many students who shadow a genetic counselor are unaware of. My position allowed me to see the inner workings of the job that I hoped to do one day.

As a new GCA, I also got to help build the future of the jobs. Many of the counselors had never worked with a GCA before, which was a good experience for the counselors as well. I got to be there for them and show them that a GCA was capable of putting in test orders, getting insurance authorization and tracking down patient records. These were all things that the genetic counselors had been doing for themselves. I was also thankful to be able to have opportunities as a genetic counseling assistant that I would not have had in another position. I was able to help the counselors with various research projects and ended up getting three posters at national genetic counseling conferences over the two years I worked as a GCA. I also was fortunate enough to collaborate on a published paper with a physician at AHN as well.

Overall, my experience as a GCA gave me valuable insight into the field as a whole and allowed me to have numerous opportunities that furthered my career as a GCA and boosted my applications for grad school. I am so thankful to be able to have had the opportunities I did and the experiences I had the ability to work with genetic counselors and make connections with individuals in the field who would eventually become my colleagues. For anyone who is considering applying to grad school for genetic counseling, I would strongly recommend considering working as a GCA for a year or two. This experience is an invaluable one and can really help strengthen your future application.

-Natalie Tri

Student Spotlight: Experiences Beginning Clinical Rotations

Here at the University of Pittsburgh, genetic counseling students begin their clinical rotations the summer after their first year. Students start out in a variety of settings and specialties, so each student has a unique experience. Read more about how we've adapted to these new steps in becoming a genetic counselor! 

I think clinical rotations are a part of the program we all look forward to as soon as we’re matched to a program, especially because at Pitt we spend the summer before second year, and the entire second year, focused mainly on rotations. I was really excited to get started but I was having some self doubt that I was actually ready. We’ve learned so much over the first year but at least for me, I still felt “Was this enough for me to work with patients?” Now that we’re a few months into rotations, the answer is yes. Of course you’re never going to know everything and you’re going to learn so much while actually rotating, but it’s so important to have confidence in the material you do know. Give yourself the credit you deserve and trust yourself because as soon as you do, your sessions will start to have more of a flow.

-Julia Knapo

 

 

 

Starting clinical rotations this summer was incredibly exciting, but also quite nerve-wracking. I was worried that I wouldn’t know what to do when I got into a real session with a patient. Though there was definitely a learning curve, it didn’t take me as long as I expected to start feeling comfortable. My first rotation was cancer, which is the rotation where we spend three weeks at the AHN clinic site and six weeks at the UPMC clinic site. The counselors at each site worked with me to make sure that I felt prepared before taking on new roles in the sessions. This gradual buildup of responsibilities helped me feel more capable and confident. I was able to become comfortable doing each part of the session before taking on the responsibility of doing a full session. Overall, although there were a lot of nerves along the way, I was surprised by how much I was able to do in that first rotation. I feel so grateful for the exposure we got to such a wide variety of patients in this rotation. I can’t believe we’re done with our first rotation block already, time really does fly!

-Savannah Binion

 

 

 

Admittedly, I was a little nervous about starting clinical rotations because COVID-19 really limited students’ ability to observe and “get in the zone” prior to starting. However, supervisors throughout my first rotation at UPMC Magee-Womens for the past nine weeks have been so supportive and understanding of student experiences that I have felt confident and adventurous in my ability to take on new parts of the counseling session. Of course, there have been challenging sessions - the most cringe-worthy coming to mind is when I case-prepped for the wrong indication based on some confusion in the contact notes (and for a telehealth visit, no less)! I was a complete ball of nerves, but the supervisor working with me that day did such a great job of normalizing feelings about a rocky session. She also reminded me that every session is a new chance to improve and restart feelings about an emotional or difficult case. I was able to pick up the pieces and keep moving with my head held high throughout the rest of the day! All of this is to say: lean on your supervisors. This is one of many scenarios when the counselors around me gave me wholesome, realistic advice about how to improve my counseling style. Find one, two, three people you can come to when you are feeling overwhelmed or need additional guidance. Without question, invested mentors are a large part of the reason I made it through my first rotation feeling good about my techniques so far and eager to improve!

-Frank Swann

 

 

Beginning clinical rotations was an exciting time for myself, as I felt like we had prepared all year in classes for this time. I started my rotation in the cancer genetics department which was a benefit for me, as I had worked in cancer genetics as a GCA for the two years prior to school starting. Jumping into rotations was a big learning curve, but I learned that the rotations documents provided coupled with a planner are my new best friends. For the incoming class, I would highly recommend knowing what you need to do before each rotation starts and making sure to complete the assignments as far in advance as you can, as that really saves you from unnecessary stresses further into the rotation block.

-Natalie Tri

 

 

After finishing the spring semester, I knew clinical rotations were the next step, and I remember feeling excited but also still slightly unsure of myself. Would I be able to adjust and handle the demands of clinic life? These feelings were dismissed once I started my rotation and met all of the wonderful supervisors that would be guiding me through this process. My first rotation was in pediatrics at the UPMC Children’s Hospital of Pittsburgh. This rotation was certainly a lot of work, especially in prepping for patients. I think it is important to be organized and reach out to the supervising GC in a timely manner to be sure you are prepared for the case. Overall, it has been quite empowering to take everything I have learned over the last year and begin to apply it in the clinic setting. There is certainly an adjustment when starting rotations, but I think it is important to trust yourself and be confident in the knowledge you have been building throughout the program.

-Maria Rhine

 

 

 

Starting clinical rotations was exciting and nerve wracking! I knew that the courses taught in the first year prepared me to start rotations, but I was still nervous. I started my rotations in pediatrics at UPMC Children’s Hospital of Pittsburgh. Starting in pediatrics was definitely a challenge and a lot of work outside of the clinic to prepare for your cases. This rotation allowed me to slowly build my skill set and all of the Genetic Counselors were very supportive with their feedback. One of the biggest things I am taking away from my pediatric rotation is that I need to be confident in myself and the material we have learned over the past year.

-Kristen D’Aquila

 

 

I was excited and nervous to enter my second year and to start clinical rotation. My rotations began with specialty rotation, thesis block, and primary care & precision medicine (PCPM). I was glad to be eased into rotation with observation since we had little to no observational experience in our first year due to COVID-19. During the thesis block, it definitely felt like I was falling behind from everyone else for not having as many counseling experiences. However, the primary care rotation became one of the huge learning curves for me to start catching up. It is important not to compare your progress and improvement with your peers as each one of us will have unique schedules and learning experiences.

-Aika Miikeda

 

 

My first rotations included three weeks of Specialty, Primary Care/Genetic Testing Clinic, followed by three weeks on thesis. I was nervous going into the Primary Care rotation because unlike Specialty rotation (which was mostly observational), Pricary Care engaged students’ participation quite early because we only had three weeks in this block. I got a little overwhelmed during my first week but started to get more comfortable once I went through the process of thinking things through when articulating genetic concepts to patients, facilitating decision-making, and especially analyzing different elements of cases to come up with a plan. I was grateful for specific feedback from my Genetic Counselor Advisors, who wanted to help us learn and always responded enthusiastically to my eagerness in learning. One takeaway for me after the Primary Care rotation is that open-mindedness and not being afraid to jump into or try new things will help me make the most out of the learning experience, and I will try to keep up such spirit in the upcoming rotations.

-Phuc Do

 

 

Starting rotations can be a challenging time because you’re trying to find a new routine. I started my rotations at West Penn prenatal, which I would say is one of the easier rotations. I would recommend keeping a log of the assignments that are due for each rotation. Also be flexible, try not to jam pack your weekly schedule. Sometimes patients no-show or you see a procedure, so you’ll want to make sure you leave room to make up patients if needed. Rotations are a great time to learn and apply your classroom knowledge in a clinical setting. Remember to have fun and be open to feedback. Also, don’t forget to talk to your classmates and second year buddies for support!

-Haley Soller

 

 

Like my classmates, I was excited and nervous to start clinical rotations! Having just completed my first rotation at Magee, I can reflect on how much I’ve been able to learn, build new skills, and apply coursework in a clinical setting. I also felt like the rotation process has taught me a lot about myself and what I want to accomplish as a genetic counselor. Though this experience is challenging, I try to remind myself that this is part of the process of becoming a genetic counselor, and as I continue to learn and take more roles in sessions, my confidence grows. I also find it helpful to remind myself that every GC has been in the same position we are as rotating students. I’m so grateful to our program leadership, clinical supervisors, and classmates who are there to support us every step of the way. 

-Lauren Garcia

 

 

 

Starting rotations this summer was exciting, especially after a whole year of everything being virtual. It has been so nice to step out from behind the computer screen and start applying the knowledge and skills we spent so much time building during the first year of classes. That being said, it has also been a very challenging experience. My first rotation was with the pediatric genetics clinic at UPMC Children’s Hospital of Pittsburgh. This rotation is incredibly busy and definitely a lot of work. Preparation for these cases is very involved and there are many assignments to keep track of. I have found staying organized to be extremely important. Pediatrics also tends to have a higher rate of no-shows, so I recommend trying to be flexible with your schedule since you may need to make-up cases. Remember that your classmates, supervisors, and program leadership are there to help you succeed!

-Elizabeth Bombal

 

 

One thing I really liked about Pitt’s program when I was applying was the confidence-building model, where our first year is primarily coursework and our second year is primarily rotations. This also means that entering my first rotation was a complete change of pace and a huge learning curve! Despite some of the bumps in the road, I’ve had a lot of incredible experiences and I’ve grown so much just over the course of one rotation. Learning to be a real genetic counselor and put all this didactic learning into practice has been challenging and very rewarding, and makes me more certain than ever that this is the field I’m meant to go into.

-Bailey Sasseville