A Reflection on NSGC 2020

In mid-November, our students virtually attended the 39^th Annual National Society of Genetic Counselors Conference. The NSGC conference “showcases advancements across the breadth of the genetic counseling profession to provide education and build community.” In this blog, our students reflect on their experience as first-time attendees and the switch from an in-person to virtual conference.

 

 

“One of the silver-linings of a virtual conference is the fact that all sessions were recorded! There were so many interesting talks, and I was able to attend all of the ones on my list by watching them live and recorded. I learned a lot of information about hot topics in genetic counseling and heard from a variety of speakers from different backgrounds. Although we couldn’t be in Nashville, it was still a conference to remember!”

-Megan Czekalski, Class of 2021

 

“I enjoyed that there was so much information concerning whole genome sequencing, which is a main focus of my thesis. The topic was mainly introduced by laboratories but was then discussed openly by genetic counselors, so it was interesting to hear both viewpoints. It also helps that everything was virtual, so I was able to download all of the associated materials and make notes on the chats.”

-Julia Gerow, Class of 2021

 

“I was very thankful to have a roommate who is also in the program because we tried to make the most of watching the conference sessions from our apartment by casting some of the sessions to our TV. Doing that, paired with breaking out our current knitting/crocheting projects, helped break up the monotony of looking at a computer all day. It was even better when we did a group zoom with other current students and program leadership for the main sessions - it made it feel a little more like we were watching the sessions in a group setting like we would have in Nashville, and we were able to have some great conversations!”

-Trinity Sprague, Class of 2021

 

“NSGC was super interesting, and the number of topics that I got to see in just a few short days was absolutely thrilling. I made sure to take down what notes I could in my handy dandy notebook for reference and review. However, I think what I enjoyed most about my first NSGC experience was the amount of networking that I got to do. It was so humbling to see the great work that GCs across the world are putting in to advance the field. I was inspired to reinvigorate my Twitter, got in touch with fellow GCs to gather research and resources to keep the learning going post-NSGC, and loved getting a chance to meet Pitt alumni for bingo and casual break-outs. In short, I didn’t think networking could be this fun. Thanks, NSGC!”

-Frank Swann, Class of 2022

 

“Although I was sad not to be in Nashville, I really enjoyed NSGC. The presentations were all super interesting and informative. I loved hearing Gunnar Esiason’s story because it was such a personal insight into the experiences and feelings shared by many of our patients. I also appreciated that I could watch some of the longer, pre-recorded sessions in shorter intervals, which wouldn’t have been possible in an in-person presentation.”

-Chelsey Walsh, Class of 2021

Welcome Jodie Vento, our new Program Director!

 

The University of Pittsburgh Genetic Counseling Program is very excited to announce Jodie Vento, MGC, LCGC, as our new Program Director! Jodie graduated from the University of Pittsburgh with Bachelor of Science degrees in Biological Sciences and Psychology. She then obtained a Masters in Genetic Counseling from the University of Maryland, School of Medicine. She began her career as a genetic counselor and neurogenetics program coordinator at Children’s National Medical Center in Washington, DC, before joining Children’s Hospital of Pittsburgh in 2012. At UPMC Children’s Hospital of Pittsburgh, Jodie managed the Center for Rare Disease Therapy, the Brain Care Institute and the Laboratory Utilization Management Program. In her role at Children’s Hospital, Jodie worked extensively with payers to develop shared processes and resources to increase the coverage and reimbursement of genetic testing.  Jodie is currently the Insurance Alignment Committee Chair for the Patient-Centered Laboratory Guidance Services (PLUGS) Group out of Seattle Children’s Hospital. Jodie is also an active member of NSGC and is currently on the Board of Directors. In her role at NSGC, she has served as the chair of the Access and Service Delivery committee and the co-chair of the Test Utilization Subcommittee within the Industry SIG. Jodie is also one the founders and Past President of the Pennsylvania Association of Genetic Counselors. Jodie is on the board of the Pennsylvania Rare Disease Advisory Council and she serves as the Genetics Faculty for the Leadership Education in Neurodevelopmental Disabilities and Related Disorders (LEND) Program at the University of Pittsburgh. We are all absolutely thrilled to learn from her!

 

Welcome and congrats Jodie! I’m excited that we have another great GC joining the leadership of our program. I’m looking forward to getting to know you and I’m sure the program is going to continue to thrive with you as program director!

Chelsey Walsh, Class of 2021

 

Welcome Jodie! I’ve really enjoyed getting to know you over the fall semester as a first-year student. I look forward to growing as a genetic counseling student under our program’s leadership and alongside my classmates. 

Lauren Garcia, Class of 2022

 

Welcome to the program, Jodie! I’m so excited to have another dedicated mentor in the field of genetic counseling. In just the few months that we’ve known you, I can already tell you’re going to be a gift to my own learning and that of my classmates. I’m looking forward to working with you more!

Bailey Sasseville, Class of 2022

 

I was thrilled to learn Jodie would be the new program director at Pitt! Robin will obviously be leaving behind a wonderful legacy and big shoes to fill, but I think Jodie is the perfect person to do just that. Having worked with Jodie before grad school, I was lucky enough to see her passion and dedication to the field, and I’m so excited for her to bring that to our program.

Julia Knapo, Class of 2022

 

Welcome to our program, Jodie! Even though I have only attended a few classes from you, I have always been very grateful and excited to hear about your experience and insights. Every time I or my classmates have questions, you empower us with such relatable, practical bits of knowledge. Not only that, you always strive to foster critical thinking pertaining to our inquiries, to think beyond what we learn in class to best serve our future patients. I cannot wait to see you implementing this critical thinking approach to different aspects of our program, as I look forward to getting to know you and learning from you much more in this journey!

Phuc Do, Class of 2022

 

So happy to welcome Jodie to the program! It's been a very interesting semester for all of us as a result of the pandemic, but your flexibility and optimism have helped keep our heads in the game in the midst of a whirlwind semester! Aside from your solid support, you bring a hefty share of expertise to the classroom and deliver your wisdom in digestible bites. You are a perfect fit alongside program leadership (as if you were right here all along) and we are so lucky to have you with us. Grateful you are joining and looking forward to learning more from and about you, Jodie!

Frank Swann, Class of 2022

 

Welcome Jodie! I am so excited you are joining our program. From our interactions in the fall semester, I feel confident that your positive energy and incredible insights will be beneficial to my class and all future classes under your leadership. I know you will continue to be a great mentor going forward; I am honored to be a part of your first class and can’t wait to get to know you more!

Maria Rhine, Class of 2022

Our 2020 Hallogene Celebration!

For the third year in a row, Hallogene is taking place! This genetics-themed costume contest takes place over Twitter, where genetic counseling programs in the U.S. and Canada compete for likes in order to win the coveted Traveling Trophy. As first-year students, we were excited to brainstorm our first picture! COVID-19 restrictions of course made things more complicated, but through the power of video-calling and photoshop, we made it work. We were inspired by something we’re looking forward to doing as a class once life goes back to normal: hanging out in a bar! It’s just not quite the same over Zoom. Hopefully next year we’ll be able to take our picture (and meet!) in person. 

Here is our submission for Hallogene 2020: Quarantini Bar(r) Bodies.

- The Pitt first-years

Reflection on Crip Camp: A Disability Revolution

On September 24th we had a discussion about a topic that can be difficult to unpack. We watched Crip Camp: A Disability Revolution, a documentary about the journey of how the Americans with Disabilities Act was established. It also gave insight into how society as a whole tends to react to those with disabilities. Being a part of the disability community myself, I was born with Muscular Dystrophy and I use a wheelchair, this topic is very important to me. I’m passionate about breaking down misconceptions, having an open dialogue about the struggles that those with disabilities face, and speaking out about the rights and accommodations we deserve.

 

Official Release Poster, By Source (WP:NFCC#4), Fair use, https://en.wikipedia.org/w/index.php?curid=63480733

The documentary does a brilliant job telling the story of how the Americans with Disabilities Act was passed. It was not so long ago that students with disabilities were not allowed to attend school with their peers. Those with disabilities were placed in classrooms separate from able-bodied peers because the school was not wheelchair accessible nor were there proper accommodations for other disabilities. Sometimes those with disabilities wound up in underfunded, underregulated institutions which led to inappropriate and unsanitary care. It was not shocking to me that this was the case. What shocked me was that this was happening not so long ago.

 

The documentary highlights this camp that was meant for individuals with varying kinds of disabilities. It was a place where you could go and be with peers who had some degree of disability just like yourself. Here the campers were able to connect and discuss how society treats those with disabilities. This sparked the realization that individuals with disabilities deserve better. It is our right to be able to attend school, have a job, and be a part of society. The activists fought tirelessly to get the 504 plan established. It was a win when it was finally passed, but of course, the government often failed to enforce it mainly because of the cost. So in 1977, the activists occupied a government building until the 504 plan was enforced and subsequently, after years of further activism, the ADA was passed on July 26, 1990. It was powerful to observe how the activists worked hard to get the ADA passed and it was not just those with disabilities who were in the fight. Individuals from the Black Panthers and LGBTQ+ organizations helped out. The intersectionality of civil rights was a remarkable sight and one that is still relevant in society today. Our fight is their fight and vice versa.

 

The aspect of the documentary that is important is how it shows the social model of disability and how even though the ADA was passed, we have only hit the tip of the iceberg. The social model of disability describes how an individual is not limited by their disability, but by their environment and society. I constantly try to explain this concept to able-bodied individuals. I know my body. I know what it can and cannot do. The issue is not my disability. The issue is that the world was simply not made for me and society continues to not enforce the ADA properly. How am I supposed to be a part of society if society does not want to spend the money to provide proper accommodations? There needs to be more preemptive designing with disabilities in mind. Why does there only have to be one wheelchair accessible bathroom? Why can't there be multiple bathrooms made for different disabilities? These are questions that architects and engineers need to ponder.

 

It is also not just the lack of enforcement of the ADA, but how society views those with disabilities. These preconceived notions about how frustrating our lives are, which just isn't true. Again, the only frustrations are the systematic obstacles that society puts in place. The fact that transportation is so difficult because wheelchair accessible taxis only run certain hours or the elevator to the subway is broken, the difficulty of finding a job because you have to list your disability, no braille marks, no sign language interpreter, reliable aids are hard to find because they are underpaid, and finding affordable housing. I could continue listing examples, but the main point is that those with disabilities do not/should not change; society needs to change.

 

Haley Kulas, Class of 2021

Observing Clinical Research at the CHP Lysosomal Storage Disorder Clinic

As a second-year genetic counseling student completing a pediatric rotation at UPMC Children’s Hospital of Pittsburgh, you get to have many unique experiences. You see kids (and their families) with a variety of genetic conditions and attend different clinics within the hospital, such as the Phenylketonuria (PKU) clinic and Lysosomal Storage Disorder (LSD) clinic. Typically, genetic counseling students see 1 or 2 patients in the LSD clinic, however, I was able to see 3 and was fortunate to interact with a research participant as a part of my LSD clinic experience.

https://doi.org/10.3390/ijms21082704

The Children’s Hospital of Pittsburgh, like a number of hospitals across the nation, participates in clinical trials for conditions known as lysosomal storage disorders. This category of conditions is made up of disorders such as Gaucher disease, Fabry disease, and all forms of Mucopolysaccharidosis (MPS), among many more. What these conditions share in common is the fact that a specific cellular organelle, the lysosome, isn’t able to break down a certain substance because an enzyme is missing or doesn’t work, and thus the lysosome becomes full of these substances. The specific condition someone with a lysosomal storage disorder has is related to what enzyme is missing or not working, and what specific genetic change is causing that enzyme to not work. This is how the conditions are differentiated. The wide range of symptoms people with lysosomal storage disorders have are due to the accumulation of these substances that can not be broken down.

 

A handful of lysosomal storage disorders are treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). One of the current issues with LSDs that are neurodegenerative (these are conditions that affect the central nervous system), is the difficulty of an intravenous therapy not being able to cross the blood-brain barrier. This means that any accumulation in the central nervous system will continue over time and not respond to treatment. However, there is on-going research into different medications and therapies (such as gene-replacement therapy) that can help treat these patients, and hopefully cross the blood-brain barrier. Some of this research has made its way into clinical trials. I was fortunate enough to be able to participate in a case where the patient was also a participant in one of these clinical trials.

 

Prior to meeting with this patient and their family, I reviewed the patient’s medical record to get a deeper understanding as to why they are seen by Medical Genetics. I also reviewed the details of the clinical trial to get an understanding of the research, and what the researchers hope to accomplish. It was absolutely fascinating learning about how this treatment might help people in the future.

 

I met with the patient and the family with Nadene Henderson, a genetic counselor, and the research coordinator for the study at Children’s. I was able to get an understanding of how often this particular family comes to the hospital for the study, and the family informed us that they feel like this clinical trial is significantly helping their child. I was able to observe the medical team take blood and urine samples for the lab prior to the patient being sent to an operating room for a lumbar puncture and infusion of the investigational drug. The purpose of infusing the drug intrathecally (IT), or through the spinal canal, is to allow the medication to bypass the blood-brain barrier and hopefully help treat the substrate accumulation in the central nervous system. It was fascinating watching the surgeon inject this medication and complete the procedure.

 

Seeing a clinical trial patient is not an experience students typically have while rotating at Children’s LSD clinic. That said, if you’re interested in clinical research, I highly recommend speaking with a researcher. It was interesting learning about how Nadene’s work as a clinical genetic counselor transitioned into a research genetic counselor position, and how her clinical experiences impact her research practices and vice versa. I think all genetic counseling students should have the opportunity to interact with research genetic counselors.

 

I really appreciated getting to participate in this experience. It was a pleasure to meet this family, and it was a fantastic opportunity to see research applied first-hand. I  have a deeper appreciation for the hard work that researchers are doing to identify treatments for complex conditions! 

 

Michael Gosky, Class of 2021

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Entering Grad School During a Global Pandemic

Starting graduate school is a challenge in normal circumstances, but the presence of the COVID-19 pandemic has brought unexpected difficulties and changes. Our new first-years discuss their experiences beginning their training while dealing with this new crisis.

"While I could never regret matching with Pitt and beginning my graduate career, it has definitely been anticlimactic and not at all what I was expecting. One of the things I was really looking forward to was having tight-knit bonds with the other students in my class -- going to classes together, studying in the Public Health building together, having all the same experiences as we began becoming genetic counselors. And these things can all still happen in various ways, they just take a little more effort, and there’s a little more distance between us. Spread across the states, we have weekly Zoom meetings to study together or just talk. We meet up for brunch (six feet away in parks). Our group chat is filled with questions about classes, but also jokes, pictures of pets, plans to explore the city. I love reaching out to my classmates and seeing them back out just as eagerly. Though the pandemic is raging on stronger than ever, I still hope that one day we will all be sitting in class together, not having to worry about distancing or masks." -Bailey Sasseville

"Going to graduate school during a pandemic has been very challenging, to say the least. I was a graduate student in the MPH program prior to joining the genetic counseling program, so the contrast between today and a year ago today is especially stark. I traveled to campus, shoulder-to-shoulder, on a cramped bus during the morning and evening rush hours; this reality is now out of the question. When I finally arrived at the GSPH building, it was always so alive with activity – students huddled together for study groups and jovial conversation. I had a chance to visit professor office hours; face-to-face seminars and lectures kept me engaged in the conversation. A morning beverage from my favorite coffee cart kept my head in the game. All in, there were cues, signs, and conversations that kept me attuned to deadlines, exams, and events of interest. All of that was taken away abruptly, and my physical world is now much more still, for better or worse. I got my first taste of these challenges in the spring when COVID-19 emerged in March, grinding much of student life to a halt. I knew that these challenges would persist, invariably, into the present day.

Still, I was so elated to have matched with Pitt’s GC program that nothing could have stopped my advance on this new and exciting opportunity. It was as if I was re-ignited: my motivation to proceed was kicked into high gear. I would not be swayed to put my education on pause, or to worry about what this new “normal” would look like, because the department had demonstrated to me prior its dedication to the best interests of all students. Now, the Human Genetics department has risen to the occasion – just as I knew it would. The amazing faculty has been wholly supportive and accommodating, and acknowledges that this is no ordinary time for any student. Students make effort and time to hold each other up, and emphasize the importance of mental health transparency during these times. I love that my class, and our GC directors, are so open to exploring our questions and concerns, both academic and personal, and that the department as a whole regularly asks students what they can do to help us get through this. Nothing about this is perfect or ideal, but we are making it work over a distance in the best way that we can. The teamwork effort has been my rock as we weather this storm, and I know that the lessons learned will make us all more prepared moving forward." -Frank Swann

"When I heard that I matched with Pitt, I remember staying in for weeks on end afterwards because of my mom’s paranoia of me catching COVID if I so much as stepped foot outside. I would religiously take precautions to protect myself and people I love, but I did not want to worry her - who expressed extreme happiness and concerns that her daughter might move away in the midst of the pandemic. She was disappointed that she could not travel to the U.S. to help me move. It was funny and touching at the same time when she always called me to see me in action, as I cleaned, packed, and sent boxes across states (my hands got excessively dry after the thousand times she reminded me to sanitize). To her satisfaction, I finished a long moving process with “grace” and “intact health.”

The moving’s excitement passed.

Then, seemingly in a whirlwind, class started, though I had been very much looking forward to it. As a huge introvert, I used to overestimate my tolerance of doing everything online (though I have always preferred attending class in person). Big mistake. There are times I daydream with nostalgia about what this pandemic has done to me, my family, my friends. The healthcare workers at the front line. The people who have lost so much probably due to carelessness or, most of the time, just bad luck. There are times I panicked thinking, “What if it does not get better?” Here at Pitt, we take all the classes during our first year and do rotations in our second year - I appreciate that the approach would equip us with tools we need to know, but what if I never get the chance to sit with my classmates in the same classroom? What if it is really harder getting to know each other because it’s purely through a screen? 

So far though, the pandemic has proved me wrong. True kindness is just a call away - when I got into a fender-bender, my program director asked how she could help, and one of my classmates offered to drive me to the ER if I did not feel well. I guess in the grand scheme of things, this pandemic is like a Pittsburgh storm. Sudden, raging, angry - the kind of storm that makes you drive with emergency lights the entire way. The kind that gets you drenched to the bones, that makes you appreciate your luck and car for not giving out on the street midway.

But afterwards, you are greeted with a peaceful night, filled with light sprinkling in your sleep. Or a beautiful sky, bright with sun and shine that welcomes you to a nice day in the park. That’s when I look out the window and remind myself. We are all in this for the long game." -Phuc Thi Hong Do

"When the pandemic began ramping up in early 2020, I started questioning my decision to go to graduate school. I was expecting grad school to be difficult, but I wasn’t expecting to have to deal with a global pandemic while adjusting to my new program. I decided to continue on my path because I was incredibly excited about my future as a genetic counselor, and didn’t want anything to delay that end goal. This adjustment has been difficult in many ways. I have always defined myself as a “people person” so the lack of in-person interaction with my classmates has made the experience more isolating. In addition, my class has missed out on some wonderful bonding experiences, like the Human Genetics department retreat that generally occurs in September. Given that we are currently doing everything remotely, I’ve been dealing with the sadness that comes with losing certain experiences that you thought were guaranteed, but overall I’m so happy to be here. I think that out of any grad program to start during a pandemic, a Master’s in Genetic Counseling is the way to go! In my experience, it seems that this field attracts people who are thoughtful, supportive, and passionate. This is absolutely holding true. My classmates have been putting in extra effort to get to know each other and support each other, even if it is through a computer screen or from six feet away. I’m grateful to be going through this experience with such outstanding people, but of course am hoping that we can all experience a more “normal” version of grad school soon. I know we’ll all be thrilled to actually see each other during class instead of just watching each other pop up on the Zoom screen!" -Savannah Binion

"These past few months have been full of surprises. I was so excited when I found out I was accepted into Pitt’s Genetic Counseling Program. One of the perks of genetic counseling programs is the small class sizes which allow students to form close friendships, but the pandemic has altered how students are interacting with each other. Previous classes describe spending most of the day together, attending classes, studying, and getting to know each other. My class is having to overcome the obstacle of not being able to have classes in person. But when one door closes another one opens. My classmates and I are able to connect via Zoom for study sessions and are able to participate in socially distant activities. Remote learning has given us the opportunity to explore outdoor spaces like Arsenal Park and the Pitt Campus. Students also have more flexibility with their work schedules because of remote learning. For example, students can attend remote classes while staying at the hospital or lab instead of having to travel back and forth. While starting grad school during a pandemic is not ideal, we are fortunate to be able to continue our education and make lifelong friendships." -Haley Soller

Psychosocial Counseling Challenges During the Pandemic

The COVID-19 pandemic has created many obstacles for genetic counselors to overcome, including a unique set of psychosocial challenges. In this blog, some of our second-year students share their experiences and challenges with counseling during the pandemic. 

 

 

“Though I’m glad our clinical rotation sites are taking all necessary precautions, I’ve found that reading psychosocial cues from clients is so much harder when everyone is wearing masks. I’ve been more likely to ask direct questions about how a client is feeling rather than reflecting their emotions with statements like “It seems like you’re feeling…” because I can’t tell how they’re feeling at all! During my previous cancer rotation, I wore a face shield during sessions and could barely see the pedigree as I was taking it, which made for some messy pedigrees and lots of white out. On the flip side, I’ve built some great rapport with clients over our shared frustrations with our newly masked lives!” -Kaylee Williams

“I am definitely thankful for our clinical rotations to return to the in-person setting, but it has certainly come with some difficulties. To reduce the chances of spreading COVID at the Children’s Hospital of Pittsburgh, everyone is required to wear a mask, and the genetic counseling students, such as myself, are only scheduled to come in once or twice a week. This brings about some unique challenges. For one, asking classmates or supervisors questions takes more effort because you aren’t all together like how it was before COVID. Secondly, trying to read people’s facial expressions is nearly impossible when they are wearing a mask, so I find myself trying to listen to the tone of their voice as an indicator as to how they feel. But on the other hand, I still feel like I can make a connection with the people I meet, the conversations just might revolve around masks a little more now!” - Michael Gosky

 

“COVID has definitely thrown a wrench into our training and into everybody’s lives. I’ve taken to asking all of my patients directly how they’re feeling about the current pandemic. It’s a good way to get a feel of what I need to think about when I’m counseling. Some of the questions I think about: Are they extremely stressed or handling things relatively well? Are they feeling isolated from their support systems? What challenges are they facing with healthcare services? Knowing the answer to some of these questions helps me figure out what I can do for the patient.” -Chelsey Walsh

“The pandemic has created many challenges for everyone and in my training as a genetic counselor. Although I am thankful that we were able connect with patients through telemedicine during the summer months, I found that telemedicine comes with a unique set of psychosocial challenges. Many of my telemedicine patients did not have a quiet space in which to attend appointments and were distracted in our sessions by other family members and various activities taking place at home. I worried about how much information the patients were hearing and retaining throughout the session, so I was frequently asking patients about their understanding and using the teach-back method. Since returning to in-person rotations, I have encountered other challenges with everyone wearing masks and social distancing during sessions. Although necessary, masks make it harder to interpret patient facial expressions and for me to offer minimal encouragers to patients. In addition, social distancing with patients in the office changes the dynamic of the session to feel less personal initially. I find that contracting and building rapport are especially important during the pandemic to overcome the awkwardness of being physically separated in appointments.” -Kaitlyn Scola

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!