Student Spotlight: Kristen D'Aquila

 

During my undergraduate training I struggled with deciding on what I wanted my future to look like. I entered undergrad as a chemical engineering major, but I did not see myself as an engineer for the rest of my life. I have always had a passion for learning new things and ultimately decided on majoring in secondary education with a focus on life science. In my 3^rd and 4^th year of undergrad I worked at a school for students with disabilities which set my foundation for teaching. After graduation I accepted a position in the high school setting teaching biology, physical science, and environmental science. I appreciated how diverse my students were in their learning styles and I enjoyed using different strategies to teach concepts in order to reach all of the students. While teaching our genetics unit, I collaborated with my colleagues to create a project surrounding genetic conditions. This project was my first exposure to the career of genetic counseling. I invited GC students from a local program to talk with my students about the genetic counseling field and their role in healthcare. I found myself drawn to the career and started to explore opportunities to learn more about it.

After a few years of teaching, I came to realize a career in genetic counseling could engage my interests in life-long learning and teaching, while providing an opportunity for meaningful interactions on a very personal basis with patients. I decided it was time to change careers. Making the decision to leave teaching was difficult. I had established myself in the school and built relationships with the students and colleagues. I was scared of moving into the unknown. I ultimately decided to leave teaching after I had the opportunity to shadow a genetic counselor. Being able to experience the impact GCs can make affirmed that this is what I wanted to do. While changing career paths has been one of the most difficult decisions I had made, it has been on of the greatest decisions. I left teaching to become a genetic counseling assistant (GCA) at a local hospital system in a cancer clinic. My time as a GCA validated my choice of switching careers and provided me with a deeper understanding of the field. I was able experience the “behind the scenes” of genetic counseling and develop my skills by speaking to patients on a daily basis about genetics, documenting patient interactions, generating test requisitions, investigating patient insurances, and calling out VUS downgraded (benign) results.

During my graduate training at the University of Pittsburgh, I have been able to pull on skills that I have developed through my teaching and GCA experience. I believe building a solid foundation of transferable skills has been extremely helpful when transitioning into my clinical rotations. My unique background in teaching can provide different perspectives and I feel that the program leadership, rotation supervisors, and my classmates value my background and experiences. Finding the right career for you can be a difficult journey, and I am grateful for all of the people who have helped me along this path. I am thankful to be a part of Pittsburgh’s genetic counseling program and I look forward to the next steps of finding a job.  

-Kristen D'Aquila

Student Spotlight: Frank Swann

 

    I work with the Center for Craniofacial and Dental Genetics (CCDG), which is part of Pitt’s School of Dental Medicine, as part of a research study known as the Center for Oral Health in Rural Appalachia study – or COHRA. Headed by Dr. Mary Marazita, who functions as both director of the CCDG and principal investigator of COHRA, this study aims to identify the complex interactions that contribute to higher rates of dental caries among rural Appalachian mothers and their children living in Pittsburgh and the surrounding areas. Through the analysis of the factors contributing to differences in caries formation among populations, including genetic, microbial, dietary, and environmental influences on dental health, the team is working to produce data that may allow us to create interventions to address these oral health inequities. Inheritance plays a big role in this research with consideration of how microbial and genetic susceptibility to dental caries are passed down from mother to child. Of course, much of our lived environments are shared with our parents, so even this can be thought a kind of inheritance.

    At present, there are two primary COHRA studies, both of which are longitudinal in design: the continuation of the original cohort that focused on Caucasian women in Northern Appalachia (COHRA2) and a newer study that focuses exclusively on African-American mothers and their children living in the region (COHRA Smile).

    My role in the study is that of a Graduate Research Assistant. While I bet this isn’t the first position that comes to mind for a student in the GC program, I actually come from a robust “line” of GCs that have passed through the CCDG: in fact, I worked closely with my second-year GC buddy here when I was a first-year student! Most of these students were also dual-degree MPH students as well, because we recognize the multi-disciplinary experience of working as a research assistant in a study that leads with health equity as a core value.

    What does a day in the life on the COHRA team look like? I would divide my tasks broadly into two categories:

    First, there is the admin/research side of things, which includes tasks related to study management. This includes work in participant visits, where I work with a hygienist to collect oral samples from women and children in the study. We collect many samples, including saliva samples for genomic analysis of both human and microbial DNA, gingival samples, and samples from enamel lesions and the early formations of cavities! We also record saliva pH, degree of fluorosis, and even record the quality of different tooth surfaces that we expect may help clarify patterns among participants. Of course, it’s also important that I prepare study visit materials, consent forms, cross-check samples, and handle mailing and payment for study participation around participant visits.

    There is also a heavy element of participant tracking that goes into this position. Our participants have very specific windows in which we prefer to have them and their children come into the study for a visit, which differs by age and study phase. Around that, our research arm also reaches out to participants to collect information about the diets, medical health, and dental development of enrolled children. As such, it is very important that I work to maintain timely contact with participants to keep them as close to their assigned windows as possible. Members of the clinical team, including myself, generally track over 150+ participants each in a study of over 1,000 active women and children enrollees! As you can imagine, proper tracking methods play a key role in making sure we continue to follow with participants and get them scheduled to come into the office in a timely manner.

    The relevance of this role to genetic counseling is larger than I could ever envisioned when I started over a year ago. For starters, the participant tracking element is great practice for when I have clinical patients that I need to manage in the future. I also love getting to talk with women and their children during participant visits. Since I am interested primarily in prenatal and pediatric genetics, I get lots of opportunities to learn from our participants and think about elements of conversation that can help bolster rapport with both populations (and with respect to the unique circumstances that tie me to those that I am working with). I also get a chance to work in a setting that encourages discussion about multifactorial explanations, including the genetic contributions, to the formation of dental caries. My favorite moments during the participant exam are when I get to explain our study to a mom who casually asks, “So what are you guys collecting all of this saliva for anyway?” and I get to flex my “patient education” muscles!

    Most of all, I enjoy this work because I know that I am making a direct contribution on the road to reduce a dire health inequity for rural parents and their children. Unfortunately, this is just one of many in our country; there are many more challenges to health equity out there, and many more populations to advocate for. I encourage my GC peers to continue to think creatively about how you can customize your work, either now or in the future, to address health care gaps related to each of your specializations! 

– Frank Swann

A Reflection on NSGC 2021

The Pitt Genetic Counseling second-year students attended the 2021 National Society of Genetic Counselors Annual Conference virtually. We were thrilled to have this great opportunity!

I was so excited to be able to travel to NSGC with my classmates, so when it was moved to remote you can imagine how disappointed I was. BUT my classmates are the best and we put together a little weekend Airbnb vacation in a mountain resort and had the best time. I actually think this ended up being a little bit better of a set up because we were able to watch everything together and talk during the presentations. I also found the presentations really interesting. There were plenty that I continue to discuss with my classmates now, and that I went back to watch after NSGC was over as well.

-Julia Knapo

 

Even as a remote conference, I found NSGC to be an extremely valuable experience. There were so many inspirational talks and speakers; I especially appreciated the emphasis on JEDI topics at the conference this year. I also think it was helpful that the sessions were recorded, so I was able to go back and review any interesting sessions that I missed. My classmates and I were still able to enjoy much of the conference together, and I am so grateful to have them all as peers and future colleagues. I am thrilled to be joining such a great profession and can’t wait for more NSGC conferences in the future.

-Maria Rhine

While we were all disappointed we couldn’t travel to New Orleans as originally planned, this year’s virtual NSGC conference turned out to be a wonderful experience. Our class decided to watch a majority of the presentations together at an Airbnb outside of Pittsburgh, making the conference feel as normal/in-person as possible. I enjoyed being able to discuss the lectures live with my peers and then spend time together after the sessions were done for the day. Additionally, attending NSGC for the second time has shown me just how much I’ve grown in this past year of classes and clinical rotations. I look forward to next year’s (hopefully in-person) conference!

-Liz Bombal

 

Despite having the NSGC conference virtually was unexpected for this year, the conference was still informative and inspiring. The virtual platform for this year was different from last year’s platform. We could access the conference from both the computer and phone application, which made it flexible and easier to access the conference schedules. This year, we were able to have virtual video meetings (instead of a chat function last year) with exhibitors in the Exhibit Halls. This format was much easier to network and get a feel of different exhibitors participating in the conference. As others have mentioned, being able to discuss the content of the presentation during and after the sessions were extremely helpful and exciting. I look forward to attending future NSGC in person!

-Aika Miikeda

 

This was my second year attending NSGC virtually, as I had done so in my first year in the program. I was disappointed that COVID-19 was still taking such a toll on this wonderful experience for the second time, I’m glad that the organizers made the decision to hold the 2021 convention virtually since we understand well the public health implications of an in-person event. That being said, this year was different in that I got to hand out with my GC cohort in-person since we were all vaccinated and watch the events together! It was so nice to create a group itinerary and engage in productive discussion throughout: this was especially helpful when a lecture presented tough concepts to grasp and we could work together to clarify these issues in ways that we could not do alone. For example, one of the talks that I really enjoyed was a discussion on the use of single-gene NIPT for fetal risk assessment for recessively-inherited conditions (which is not yet utilized clinically). This was something that I think was an entirely new concept to all of us, and even now I have some trouble recalling exactly how it works! However, reader, I certainly encourage you to read more about this exciting technology for yourself: Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders - ScienceDirect -Frank Swann

 

I really appreciated the opportunity to attend NSGC this year. While my classmates and I were disappointed to not attend in person, we were able to still watch a majority of the presentations together. I also think one benefit of the conference being online, is the ability to go back and watch other presentations. There was a presentation on raw data that included genetic counselors and a lawyer. The presentation talked about how individuals are now requesting their raw data from direct-to-consumer testing companies and asking third parties to translate the information. Raw data is not validated or accurate. Different companies interpret SNPs differently, which can lead to misunderstanding and unnecessary stress. I was able to use part of the talk and the articles mentioned in the presentation for my public health essay/thesis.

-Haley Soller

 

Although it was disappointing to attend another virtual NSGC conference, it was a great learning experience for me. I was able to attend the sessions I was most interested in as they happened live, but I now also have the opportunity to rewatch other sessions, as they were all recorded. The material presented this year focused a lot on the new language and integration of gender-fluid or non-binary individuals, which I appreciated. There were several interesting presentations on pedigree standardization for individuals who are gender non-conforming. I am excited to see what next year’s conference brings, and I look forward to the potential in-person conference in 2022.

-Natalie Tri

 

I was disappointed about not being able to go to New Orleans this year, but I appreciated the opportunity to attend NSGC the second time during my graduate school experience. It was exciting and inspiring to see the personal growth within a year, as I was able to relate and think of ways to integrate the knowledge learnt from the talks into the future career or even current rotations. I particularly enjoyed the video/Zoom platform to interact with people, making it easier to talk and learn from people’s experience compared to last year. Other topics I appreciate are diversity and inclusivity addressed by not only by multiple institutions but also testing laboratories, which provided exciting insights into expanding our genetic databases and the field’s direction. I look forward to attending NSGC in years to come, hopefully in person.

-Phuc Do

I had a wonderful time attending NSGC (virtually) this year! As many have said it was disappointing to not be in person, but my classmates and I made the best of it. We ended up attending the virtual conference together from an Airbnb in the mountains, and it was such a lovely way to engage with the NSGC material. We were able to spend valuable time together and discuss our thoughts on the various lectures we attended. I am incredibly grateful that we made the most of this experience, even if it was not the experience we originally had in mind.

-Savannah Binion

 

I enjoyed attending NSGC virtually with my classmates. I was disappointed that it was not in person this year but our class made the most of it and rented an Airbnb outside of Pittsburgh. This was a great way to still have in person conversation and discussions about the talks and it was really helpful for me to be able to talk during the session and ask questions to my classmates. The content of the conference this year was also very interesting and impactful related to justice, equity, diversity, and inclusion. A great feature of having the conference virtual is that I am able to go back and rewatch some of the talks that I was not able to attend live with my classmates. Overall, attending NSGC virtually still provided great talks to move the profession forward and I look forward to next year’s conference (hopefully in person)!

-Kristen D’Aquila

 

Like everyone, I was saddened not to be attending NSGC in person in New Orleans, but I also understood that moving it to a virtual setting was absolutely the safest choice overall. In every other way, this year’s conference was fantastic. It showed me how much I’ve grown in just a year -- I understood so much more about every presentation I watched and could make connections to lectures I’ve had or cases I’ve seen in clinic. Every talk on the schedule sounded so exciting that I was really grateful the virtual mode made it possible to go back and watch the ones I had missed. It was fantastic to feel like such a part of this wonderful community and even envision myself presenting at NSGC some day in the future!

-Bailey Sasseville

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

Student Spotlight: Specialty Rotation

 

Phuc Do

    Unlike most of my classmates, I hit the ground running with clinical rotations in specialty – a unique, largely observation-based rotation that provided me with opportunities to see a wide array of clinics in which genetic counselors work. The first look at the schedule made me a little overwhelmed and excited with each and every clinic day varied in its title and often locations. With this being my first rotation, I was also thinking about how to organize such a variety of information/clinic settings and get the most out of observing. I did not yet experience what a “traditional” structured genetic counseling session should be (aside from stimulated patients), and here I was, already preparing to be exposed to the non-traditional, specialized sessions. Excitement grew inside me with the anticipation that every clinic day is a unique learning environment, where I could meet different experienced GCs and learn from them in specialized fields. A few names of my clinic days include ophthalmology, pediatric oncology, adult Down syndrome, and cardiogenetics.

    One thing I was glad that I started early on was to reach out to the GCs in each clinic a week or more before the clinic day. Each clinic has a different set of expectations for which a GC intern should prepare in advance, along with prior or follow-up assignments that consolidate the student’s takeaways. Every week, I also chose a memorable case on which to write chart notes and create my own outline. To systematize our observations, I was also provided with an “Active observation form” from the program to do brief case prep and fill out sessions’ information. 

    Although the specialty rotation is considered not as intense relative to others, initially I was a little overwhelmed with such a variety of information. Furthermore, with all the clinics being very specialized, I found myself not being able to come up with specific testing options or strategies. Despite spending a whole year in the classroom, observing the functioning of specialized clinics had actualized in me the gap between classroom and practice, with the recognition that a genetic counselor’s roles are fluid and flexible within a hospital or even a specialty. An example would be the Muscular Dystrophy Association (MDA) clinic, where Kelsey Bohnert, my GC supervisor, took turns with other providers in the multidisciplinary team to see patients. This streamlining approach is to enable the muscular dystrophy patient’s convenience in their new, follow-up, or routine appointments to see all the specialists at once, including Dr. Hoda, the director neurologist, the PA, the physical therapist, the rehab doctor, and the genetic counselor. It was eye-opening to see how Kelsey counseled patients with needed contents conveyed and proper informed consent achieved but in a very time-efficient manner, allowing time for other specialists and for a constant clinic flow. Fresh from the classroom with the idea of a 30–40-minute session, I felt the need to learn the ability to greatly customize sessions. It seemed like a daunting task, but it was necessary to incorporate genetics into patient’s care.

    Slowly, I practiced seeing that gap as the room to grow. It was exciting to realize that as long as I kept the growth mindset, I could mold my professional development to focus on a deeply specialized sub-specialty or condition I am interested in. Such appreciation came from the great support I had from clinics’ supervisor. I had felt the eagerness to help me learn from every genetic counselor, doctor, and coordinator I came across, who wrote helpful summaries or handouts, provided me with recommended readings, and always gave me time for debrief and Q&A. I found clarity and interesting stories when asking questions from cases, clinics, testing options, patients’ programs, to career paths of how my supervisors came to participate in such unique clinics. For example, it was a wise search for a fast-paced, specialized practice setting that helped Michelle Alabek to land her job at the eye clinic, where she served as both a genetic counselor and a coordinator. After the patient saw the optometrists and had ocular imaging, the attending physician, Dr. Sahel, would see the patient to review medications and testing options, for which Michele would counsel. The eye clinic at UPMC housed cutting-edge technologies and clinical strategies especially for inherited retinal degenerations. Dr Sahel, the director, is a worldwide-renowned expert for development of vision restoration techniques. Michelle remarked on her experience seeing impressive bench-to-bedside approaches utilized to benefit the patients. When asked about her journey, she guided me with helpful tips and questions to ask in job interviews such as the position’s role, peers’ interaction, and past experience working with GCs, in order to tailor job search and form your development. 

    There are many other unique, by no means less interesting learning experiences in the specialty rotation to fit into one blog spot, so I will leave it here to not spoil all the excitement. I ended this rotation with a great appreciation for my mentors, the exposures, and the hope of experiencing more of such a variety and expansion of GCs roles in the future. I hope that my experience leaves you, the readers, some sneak peeks into this one-of-a-kind rotation, as I prepared myself for another unique one that Pitt has to offer – the primary care/genetic testing rotation.

Best of luck to everyone this summer!

Phuc Do

 

 

Student Spotlight: GCAs at the UPMC Hereditary GI Tumor Program

 

Lauren Garcia (left) and Aika Miikeda

We work at the UPMC Hereditary GI Tumor Program as Genetic Counseling Assistants (GCAs). The majority of patients come to our clinic for hereditary GI cancer risk assessment or management, including Lynch Syndrome, Familial Adenomatous Polyposis (FAP), Hereditary Diffuse Gastric Cancer (HDGC), Familial Pancreatic Cancer (FPC), and more. The team consists of a gastroenterologist specializing in hereditary GI predispositions, two genetic counselors, Beth and Eve, and several research coordinators who enroll and coordinate patient participation in various research studies. Typically, we see about 10 new patients per week. Patients with known familial variants may choose to have single-site testing, and others may be tested using multigene panels that include many cancer predisposition syndromes. One of our roles as GCAs is to collect relevant past/current medical histories and family history information before these appointments. Other tasks include entering pedigrees and genetic test results and inputting patient information into the research registry. Both of us have the same roles and are assigned to each genetic counselor in the clinic.

 

What’s it like to work at the clinic? 

Working at the GI Tumor Clinic continues to be a unique and rewarding experience. Both of us feel that it's been valuable in our development as future genetic counselors. It has been especially helpful in applying core genetic counseling skills, like constructing pedigrees and interpreting genetic test results. During the beginning of the pandemic, the office set up remote options for the previous GCAs, which allowed us to have a lot of flexibility when we took our positions. Both of us had periods where we worked out of the state or out of the country because we had access to everything we needed from home. Even with loosening restrictions, we are still mostly remote, which has been helpful during busy rotation schedules. Each of us stops by the office about once a week to drop off or pick up paperwork. Typically, the GI clinic has one GCA per class, but when we entered the program, they decided to hire two GCAs. Having two GCAs allows us more flexibility and the opportunity to learn and discuss questions with one another, especially in the current remote nature of our job.

 

Why did we choose this position?

Lauren: Before grad school, I had a strong interest in cancer genetics and worked as a researcher in a cancer laboratory, mainly focusing on breast and ovarian cancer. I knew that I wanted to continue working in this space and was excited to apply for this position, as it seemed like a great fit. In addition, I liked that I would be able to actively apply what I was learning in class, such as constructing pedigrees, reading test results, and becoming more familiar with GI cancers and the many roles of a genetic counselor in this environment.

Aika: I have always been interested in GI cancer predisposition syndromes, and I wanted to do my thesis on this topic when I got into a GC program. When the GI Tumor Program work position became available, I was very excited to apply and learn more from my work position. We are also provided an opportunity to do a thesis with them, and I am on board with exploring my thesis in the clinic. I am very thankful for being able to explore my interest in the cancer genetics field as a GCA.

 

 

Prospective Applicant Experiences

 As we finish one application cycle and prepare to enter another, many individuals are wondering how they can improve their applications to have the best chance of matching with a genetic counseling program. It’s important to have experiences that prepare someone for entering graduate school as well as the field of genetic counseling. Shadowing genetic counselors is a classic example of this, but there are actually many more potential experiences individuals can consider.

 

If you want to become a genetic counselor, the most important thing you need is exposure to the field -- essentially, learning what it means to be a genetic counselor to ensure that it’s what you really want to do. Shadowing is the most hands-on way to do this, but finding opportunities can be difficult. There aren’t many genetic counselors compared to other healthcare providers, and they tend to cluster in larger cities, making it harder for individuals in rural areas. Healthcare systems also might place restrictions on whether individuals are allowed to shadow genetic counselors during sessions with patients, even when we’re not in the midst of a pandemic. If you can get shadowing experience, great! If not, here are some other resources!

 

Talk to genetic counselors -- by phone, by email, by whatever means you can. At www.nsgc.org, you can search for genetic counselors who are open to being contacted by individuals interested in the profession. Asking questions of genetic counselors practicing in a variety of settings is a great way to learn about genetic counseling straight from the source. This will help give you an idea of their day-to-day life, their favorite and least favorite parts about their job, and whatever else you’re interested in. Genetic counselors love helping prospective applicants, so don’t be afraid to reach out!

 

Educate yourself. There’s a whole host of media out there for you -- podcasts, books, seminars, webinars and more. These can teach you not only about what the field of genetic counseling is like in general, but also about specific genetic syndromes, legal debates, issues within the profession, and more. Use these resources to round out your understanding of the field.

 

This isn’t a comprehensive list of ways to get exposure to the field, but it’s a good starting place if you’re feeling a little lost. Anything that helps you learn about genetic counseling counts! Just remember to list it somewhere in your application -- if you don’t, how will programs know all the work you did?

A Day in the Life: First-Year Students

One of the most common questions prospective students ask is, “What is it like to be a student in your program?” We hope to answer that, at least from the perspective of a first-year student at the University of Pittsburgh. Both inside and outside of the curriculum, each student has a unique daily experience. Here’s a brief look at that variety! 

This year has taught me that I need a routine in my life more than I originally thought I did! The majority of our semester has been online, which means I spend the majority of my day in my apartment. In the beginning of the year it was difficult to find the best way to organize my time outside of classes. I was so used to the routine of getting up and going to class (in undergrad) or work (before starting GC school) that without a specific routine of where I needed to be, I found myself spending the time between or after classes in ways that probably weren’t helpful to getting my work done. Once I forced myself to set a schedule of when I would be in class, when I would work on schoolwork, and when I would work my part-time job, I had a much easier time with the semesters. Now that I’ve made myself more of a schedule, I find myself spending the day going to class, studying, and/or working as a part-time genetic counselor assistant at Children’s Hospital, and even finding time to hangout with my classmates, work out, or catch up on episodes of RuPaul’s Drag Race and 90 Day Fiancé. Grad school in a pandemic is definitely strange, but it’s a unique experience and I’m happy to have such a great group of people to do it with. 
-Julia Knapo

Throughout my first two semesters in the Pitt program I’ve spent most of my time in classes and at my part-time job! We do the majority of our classes within the first year, and then do mostly clinical work during our second year. Almost all of our classes have been remote this year so I’ve been spending most of my class time in my apartment here in Pittsburgh. We did get to have a few classes in-person when cases in the city were low, which was a really great experience! Aside from classes I’ve also been spending time working a part-time job at Magee-Womens Hospital as a genetic counselor assistant. It can be tough to balance working a job with my school work, but I really value the time that I spend working in the clinic at Magee. Whenever I have free time, I generally like to try and explore Pittsburgh or spend time with my classmates! The pandemic has definitely made that more difficult, but we’ve been able to spend time with each other in socially distant ways which has still been such a fun time!

-Savannah Binion

It’s hard to sum up what “a day in the life” of a first-year student is, because each day feels totally different from the last, and each student has a different day. From the outside, it looks like I spend most of my time in my apartment, attending classes via Zoom while my classmates do the same from their apartments. While that’s true, our classes progress quickly, so it feels like every day I’m a bit more of a genetic counselor than the last, and it never gets boring. Our knowledge base builds upon itself and enables us to take on new assignments and tackle new parts of the genetic counseling process. We are full-time students, so this learning takes up the majority of my day or my week, but it still leaves plenty of time for other pursuits! I have a part-time work position as the student worker for the first-year class, and I love the flexibility of being able to choose my own schedule for that. I find time to explore the city, go on walks around nearby parks, and bake enough bread to feed a family. And we all find time to meet up for socially distant get-togethers!

-Bailey Sasseville