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