Perspectives on Advocacy from a Patient & GC Student

 

Advocacy experiences are always highlighted as a key area of exposure for prospective genetic counseling students, allowing for familiarity with the unique lived experiences with those with disabilities and genetic conditions. As a person with a rare bleeding disorder, finding my own sense of advocacy was something that was grown and cultivated within me throughout different stages of my life. My sense of advocacy started as largely personal, revolving around self-assurance in management of my bleeding disorder. Key figures such as my hemophilia treatment center care team, my family, and my local bleeding disorders community stressed the importance of making my unique health care needs known to others.

As I entered my college years, my advocacy evolved beyond a strictly personal sense and evolved into a desire to advocate for the greater bleeding disorder and rare disease communities.  Whether participating in legislative advocacy against restrictive insurance policies for those with bleeding disorders or working to provide a summer camp experience for children with serious medical conditions, I was able to broaden my horizons beyond my own experience with rare disease. In my interactions with organizations in the larger rare disease community, I also came to understand how healthcare professionals, staff members, and volunteers from different backgrounds coalesce to provide essential community support.

Upon entering Pitt’s genetic counseling program, I was curious to discover how my understanding of advocacy as a rare disease patient would blend with the manner in which genetic counselors advocate for their patients on a daily basis. With a semester of genetic counseling school under my belt, I have learned key lessons in how genetic counselors act as advocates for the patients they serve and empower patients to become their own advocates.

1. Stay informed on policy and research initiatives that inform patient care

With a curriculum rooted in public health, Pitt’s program emphasizes the crucial role that healthcare policy and law play in providing care to patients. Lectures that we received were always peppered with information on pertinent health policy. Our lecture on informed consent taught us about laws that protect patients from discrimination relating to genetic testing and disabilities while our lecture on newborn screening introduced us to state policies that designate inclusion of certain genetic conditions on testing panels. Genetic counselors may find themselves advocating for a new disease to be added to the newborn screening panel in their state or helping to coordinate patient enrollment into clinical trials for a promising new drug. Through an understanding of the unique issues that a specific patient population finds most pertinent to their community, genetic counselors can better understand how to support their patients. 

2. Become familiar with local support groups

Throughout the first semester in our Principles of Genetic Counseling course, we were privileged to hear from families in the greater Pittsburgh area about their patient and caregiver journeys. A consistent highlight of these talks were the importance of local support groups as a source of encouragement, guidance, and direction for patient families. A genetic counselor may provide initial support in the clinic, but they compose just one piece of the puzzle in a network of support for patients with genetic conditions. As a part of our Interventions Skills in Genetic Counseling course, second semester students further explore this impact through direct observation of a support group. By opening avenues to other resources for support beyond the genetic counseling clinic, patients and their families can expand their journey of involvement and advocacy to the level in which they choose. 

3. Recognize that advocacy comes in all shapes and sizes

     After a patient shared that her ultimate goal was to find a diagnosis for the symptoms she was experiencing, the genetic counselor I was observing took the time to acknowledge her advocacy journey in taking the steps to seek out genetic counseling for her own personal clarity and health needs. This reinforced that advocacy is not defined based on set parameters of knowledge, past experience, or public-facing exposure. Patients can choose to participate in advocacy efforts to the level in which suits them best. It is important for genetic counselors to validate any and all experiences and meet individual patients where they are at in regard to how advocacy can function for them. 

If you have ever stood up for something you have believed in or have stood up for others in your life in any capacity, you have practiced advocacy skills in your daily life. Regardless of personal background or experience, advocacy is something that is instilled in each and every genetic counselor. As I continue on throughout Pitt’s genetic counseling program, I am grateful to be surrounded by fellow students and faculty who possess a shared passion for serving a community that is near and dear to my heart. 

A Sneak Peek Into Pitt GC’s First Semester Curriculum - Anna Hilliard

If you’re a prospective applicant for the University of Pittsburgh’s Genetic Counseling Program, odds are you’re already familiar with this image, which represents our first-year curriculum:

As an applicant, I remember wanting to know more about each of these courses and how the current students felt about them. If you feel similarly, you’re in luck: keep reading for an exclusive sneak peek into my experience with the first-semester courses, how they fit into my understanding of genetic counseling, and an assignment/project highlight from each class!

Obligatory disclaimers: Pitt GC’s curriculum is subject to change, and our program leadership do, in fact, make changes based on our feedback each year! My impressions are reflective of the courses as they were in Fall 2024. Also, I will be omitting the human genetics seminar, case conference, and grand rounds courses for the sake of brevity.

1) Principles of Genetic Counseling (aka Principles)

Taught by Pitt GC’s own Jodie and Robin, this course is the primary genetic-counseling-specific course you’ll take in your first semester. In it, we covered a variety of core genetic counseling topics (including a sizable module on pediatric genetic counseling) alongside a series of assignments designed to help us practice GC skills as we learned them and to build confidence in communicating complex information clearly. We also had several community panels where patients and/or their families came in to share their stories with us–these panels were an extra notable highlight for me, and I learned so much from them! 

There’s not much I can share visually given that most of our assignments were text-based, but here is a simple, on-the-fly visual aid for autosomal recessive inheritance that I created as part of our “genetic concept explanation” assignment, where we had to explain a wide variety of genetics terms as though we were speaking to a patient with limited health literacy:

Overall, I felt that the Principles course provided an excellent introduction to the genetic counseling profession and helped me to practice the type of thinking and problem solving that genetic counselors do on a daily basis. 

2) Molecular Basis of Inherited Disease (aka Molec)

Molec was, in short, a journey. Led by Dr. Beth Roman and a few guest lecturers, we explored the foundations of molecular biology, the mechanistic basis and inheritance of various Mendelian disorders, and the ins and outs of single-gene impacts on so many different body systems. Both didactic and practical, I had a blast (get it?) in this course. The grading for Molec is based on homeworks, quizzes, and exams, so I have no projects to show here, but I do have this relevant meme that I made that exemplifies the molecular concepts we learned about: 

In this meme, famous musical artist Eminem is throwing Wikipedia’s top image for “nonsense mediated decay” (NMD) at the viewer. NMD was one of my favorite topics that we covered last semester; I had never heard about it before taking the class, and the quality control mechanisms that our bodies use to keep things running smoothly never fail to amaze. In short, eukaryotic cells are able to detect when translation has ended prematurely, whether by way of a premature stop codon caused by a mutation or through other mechanisms, and subsequently degrade the transcript before it is fully translated. Intricate molecular mechanisms like NMD were a regular topic in Molec, and in a level of detail that I was never exposed to in undergrad!

Although the information overload could be a bit overwhelming at times, developing such a strong molecular genetics foundation in my first semester really did help to contextualize the concepts I learned in my other classes and will definitely continue to help me along the way to becoming a full-fledged GC. Knowing what the information found in variant databases, patient laboratory results, etc. actually means on a molecular level helps me to internalize that type of information so much more effectively!

3) Introduction to Statistical Methods (aka Biostats)

In Biostats, taught by Dr. Haley Grant, we made our way through six modules each taking us through different aspects of data management, statistical principles, and data analysis. We utilized R/RStudio throughout the semester, which is a valuable skill to have on hand, and also applied the concepts we learned through written analyses of real-life research articles. While I had some familiarity with R and basic data analysis going in, Dr. Grant’s course filled in the foundational gaps that I had and introduced me to newer, more efficient ways to manage and analyze data. My newfound biostats knowledge will almost certainly come in handy when it’s time to work on our thesis projects, and having a strong understanding of statistics is key for effective genetic counseling. Whether a statistical novice or an R pro, Biostats will have you creating and interpreting figures like this one in no time:

4) Introduction to Population Genetics and Genetic Epidemiology (aka Pop Gen)

Having last taken a course about population genetics in 2018, I was a bit nervous going into Pop Gen and having to revisit ancient concepts like Hardy-Weinberg (HW) equilibrium and genetic drift. However, Dr. Shaffer made these topics so fun and engaging that my fears faded away quite early into the semester. This course provided a broad, application-based overview of HW principles and the impacts of violating them, statistical tests for trait association and inheritance, and an entire module on genetic epidemiology and gene mapping. The genetic epidemiology section in particular overlapped strongly with the content from my other classes (especially Molec and Epi), and by the end I started to feel much more confident in my ability to read and understand genetics literature. Pop Gen is largely homework- and exam-based, so there isn’t much I’m able to show here, but I can share a simple graph that I made to represent how the frequency of a major X-linked allele would change over time if a certain Hardy-Weinberg assumption were to be violated (can you guess which one?):

5) Principles of Epidemiology (aka Epi)

Lastly, co-instructed by Drs. Songer and Costacou, our evenings spent in Epi lecture sessions collectively took us through the entire epidemiological practice cycle. We covered (among other topics) fundamental epidemiological principles, global health assessment, disease surveillance systems, and approximately nine million different measures of variable association. Before coming to the Pitt GC program, I had almost no exposure to epidemiology and likely would not have thought it would be an area that I’d have any interest in. However, I found that many of the core concepts we learned in Epi tied back well to the field of public health in general and to the genetic counseling profession. Having a solid understanding of the epidemiological approach and good research practices allowed me to dive more deeply into genetic epidemiology and to think carefully about how academic research is presented.

Conclusion

Thank you for joining me on this whirlwind tour of my first semester as a Pitt GC student! While it may seem like a lot at first, I found the course load to be very manageable with a bit of schedule planning and lots of support from my wonderful cohort. As the semester went by, the different topics from each of my courses started to fit together in a way that really helped with my overall understanding and, just as importantly, with my confidence as a student and as a future genetic counselor. There is still much to learn, and I look forward to seeing how the second semester courses expand on what I’ve already experienced!

From Experience to Expertise: Why Genetic Counseling Programs Require Key Experiences and How Pitt Expands on Them - Samantha Pokorny

When I first applied to genetic counseling programs, I often heard from current students that maintaining the required experiences of an applicant alongside the demanding curriculum was nearly impossible. Initially, I didn’t understand why these experiences were essential for application and seemed less emphasized during the program. In reality, these required experiences are not mere checkboxes but demonstrate essential skills fundamental to effective genetic counseling. As a student, I realized how these foundational experiences are built upon in the program.

Leadership skills are crucial for genetic counselors, who often find themselves in positions where they must guide patients through complex, emotionally charged decisions. I developed a non-profit organization that provided impoverished children birthday celebrations (see photo). Through this experience, I learned how to handle a crisis, make strategic decisions, and support my team. Now in the clinic, I have seen all of these skills translate when guiding patients and families through genetic testing and counseling. Leadership experiences are the foundation as Pitt dives deeper into specific topics through lectures on non-directiveness, crucial conversations, decision making, conflict resolution, intervention techniques, and many more.

Communication is at the heart of the genetic counseling profession. Genetic counselors must convey complex genetic information in a way that is understandable and supportive, requiring exceptional verbal and written communication skills. I was able to develop my communication skills through competing in pageants (see photo), a nontraditional experience that taught me public speaking, interpersonal interactions, and active listening skills.
Pitt teaches how to apply these foundational skills to genetics specifically through practicing explaining complex topics in patient language, writing patient letters, role-playing, and simulated patients. 

Genetic counseling as a field is ever changing, and thus requires both a long-term commitment to the profession. I have always been passionate about learning and self-growth. But how exactly does one go about portraying that in application? My resume went beyond shadowing and interviews, it included podcasts, books, television series, and magazines. Long-term engagement in relevant activities demonstrates a genuine passion for the field, which is essential for the continuous learning and adaptation required in genetic counseling. I’ve seen this applied when genetic counselors encourage us students during our rotations to look into the most recent research and include it in our patient’s appointments. 

To appreciate and interpret research, foundational research experience can be
beneficial. It helps genetic counselors stay attuned to the latest advancements in genetics. My undergraduate work in a pearl millet lab (see photo), including writing and defending my thesis, taught me genetic techniques, research interpretation, data analysis, and applying research on a large scale. In Pitt’s program, there are entire classes built on this idea; Genetic Techniques, Bioinformatics, and Case Conference teach variant interpretation, scientific literature evaluation, and application of research to patients.

Volunteering in crisis counseling provides direct interactions with individuals in distress. Volunteering over 1,900 hours on a sexual assault hotline honed my active listening, empathy, and communication skills while teaching me to navigate emotional challenges and manage stress. Pitt’s program takes this as foundational and expands further into topics like transference, countertransference, advanced empathy, and self-care. Yeah, we had a lecture on self-care because Pitt’s GC program cares about the longevity of their students’ mental health and careers. 

Genetic counselors are often advocating for the patient’s needs, supporting informed decision-making, and navigating complex healthcare systems. I worked as a genetic counseling assistant in a cancer genetics office where I got to be a part of a team that helped fight for patients’ care by writing letters of medical necessity, supporting all paths of medical journeys, and helping patients navigate the relationship between healthcare and insurance. This experience taught me a deep understanding of patient rights and ethical considerations, which are built on at Pitt in lectures on advocacy and ethics. 

Genetic counselors work with individuals from a variety of cultural,
socio-economic, and racial backgrounds. I had the opportunity to study abroad in college where I learned about cultures and values that differed from my own (see photo). This inspired me to obtain my Global Education and Leadership Certificate in undergraduate, which taught me that all individuals deserve treatment and care in a culturally competent and equitable manner. This is pushed in Pitt’s program as we learn the advantages and disadvantages to different appointment models, how to handle cultural bumps, and ethnocultural considerations. 

When applying to genetic counseling schools, programs are looking for these foundational skills in your life experiences. The types of experiences you have can vary; mine took many traditional and non-traditional paths which were accumulated throughout my life. As a candidate, you must emphasize how your experiences translate into the professional practice of a genetic counselor. As a student at Pitt, I have truly been able to further appreciate how a genetic counseling program takes these life experiences, and expand on them in an academic and clinical setting. 

 

From Classroom to Clinic: Reflections from My First Rotation - Grace Ferrell

    One of my favorite things about Pitt’s genetic counseling program is our confidence building model, where first year students are primarily immersed in the classroom before heading into clinical rotations during the summer months and for the remainder of our training. I personally appreciated the time I had to learn the majority of information needed prior to seeing patients. While this allowed me to really focus on content, the transition from classroom to clinic is one that took me time to adjust to. It’s for this reason that I want to share some pearls of wisdom that I’ve gleaned from my first eight weeks as a genetic counseling intern at the Children’s Hospital of Pittsburgh.

1) Your brain has got your back, and when in doubt, so do your supervisors! 

    One of the biggest obstacles for me when starting my pediatric rotation was the worry that I wouldn’t have all the answers and that by not having them, I would negatively impact a session. As I observed more sessions and witnessed genetic counselors handle tough questions, I learned a few things. I quickly learned that a challenging question is an opportunity to build rapport with patients. It can be beneficial to answer what you can of a patient's question, using the knowledge gained in the classroom, and then defer to the supervising genetic counselor. Alternatively, mention that you will look into it and get back to them as soon as possible. I think this can show patients that you are listening and care about their question, while also wanting to not speak out of turn. By recognizing my role as a learner, a lot of the pressure of having all the answers fell away, and I was reassured that there were ways to get the information needed.

2) A genetic counselor’s best friend isn’t their dog - it's OMIM, GeneReviews, ClinVar, and Google!

    Speaking of finding answers, this rotation showed me firsthand how genetic counselors utilize their resources to provide accurate information for their patients. Luckily for Pitt GC students, we have a whole bioinformatics course that helps us understand what platform and databases we can frequent to learn about a condition or variant of interest. Along with helpful bioinformatic tools, Google was an unexpected life saver as daily I would be learning about a new condition with associated clinical features that I had never heard of before. A sticky note with definitions of medical terminology was always nice to have in my back pocket. 

3)Feedback is your friend!

    Going into this first rotation, I knew I was going to be receiving feedback to a level to which I wasn’t accustomed. This can understandably bring about feelings of apprehension when you aren’t sure what to expect. However, any feelings of nervousness quickly dissolved when reflecting on a case and possible areas of improvement. Not only do genetic counselors already have an innate skill set for providing feedback in a respectful and comfortable manner, but what they shared often was so insightful and genuinely helped in aiding the development of my skills. If I received feedback I wasn’t expecting or didn’t understand, it was really helpful to walk through my thought process with the supervising GC to address how my thinking could be adjusted. Overall, I felt most proud when receiving feedback in one session and being able to immediately make the changes in the following one. Constructive criticism provides an opportunity to learn and grow.

Along with some of my favorite lessons listed above, these weeks have continuously reminded me of the importance of self-care and the utilization of one’s support systems. In order to show up for patients, it’s important to show up for oneself! Lastly, I’d like to thank all the genetic counselors out there who support GC students in developing our skills and confidence in the clinic.

A Counselor Prepares – Jerome Doerger

I was in elementary school when I saw the 8^th-grader’s-production of Annie. Between the classic red curly wig, shaved-bald-head of Daddy Warbucks, and the punchy rendition of ‘Hard Knock Life’ stomped out by angsty middle schoolers, I knew I wanted to be up there. I was able to achieve my goal by playing Tom Sawyer when I was in the 8^th grade. In high school I firmly cemented my identity as a theatre kid by being involved in every production possible while leaving other extracurriculars that used to fill my time behind. When I was 16, I knew I wanted to go to college to study Acting and specifically Musical Theatre.

This may be the point where you are asking yourself, “Jerome, what does this have to do with a Genetic Counseling?” And I totally understand this question. It is the question I have been asking myself since the moment I pictured myself even possibly switching careers and attempting to join the field of Genetic Counselling. However, over this last year of course-work and my first clinical rotation, the answer has been revealed to me.

One of the biggest lessons I learned in my acting training was that no matter what character you are portraying, the most interesting and compelling version is the one that you bring the most of yourself to. Think of your favorite actors and the roles that they inhabit so well. Many actors can be transformative, but the ones that often ring the truest are done by performers who always bring themselves to a character. This parallels with one of the biggest lessons I’ve learned over the last year and that is the value a counselor can bring to a session, especially one that has many psycho-social considerations. Sometimes the most important thing you can do is just be a human and stay present with the human sitting across from you.

Often as counselors we need to interpret complex topics involving genetics and testing methodologies. Combine this with a patient who may have recently received a shocking cancer diagnosis, or a parent who just wants to help their medically complex child. Sometimes reviewing the family history brings up complex emotions surrounding loved ones that have passed and relationships that have changed. It is crucial in these moments to inhabit this space of discomfort, allow the feelings and silence to happen, then offer the tissue and assure the patient everything they are feeling is okay. The best way I know how to be of service to patients in these moments is by bringing my whole self into the room and staying present.

In my undergraduate program we studied Stanislavski’s “An Actor Prepares”. Konstantin Stanislavski was a titan of the Moscow Art Theatre whose methodologies catalyzed theatre and the craft of acting in the 20^th century. He is best known for concepts about identifying a character’s Objective or what the character wants. Often the best scenes occur when two characters’ objectives are in conflict with one another.

In our second semester Genetic Counseling course we learned about the Reciprocal-Engagement Model (REM) as a foundational practice theory. I quickly started to see the parallels between Stanislavski’s Objectives and the REM’s Process Goals, or the desired genetic counseling outcomes. Continuing to fall into place, the REM’s Strategies and Behaviors aligned with acting’s ideas of Tactics or the approaches an actor uses to achieve their objective. The obstacles that characters face in excellent dramas often present can be seen in the uniqueness each patient brings to a session and how a counselor navigates each individual session supporting patient autonomy while ensuring they are making an informed decision.

This is all to say that wherever you find yourself in your Genetic Counseling journey, be sure to bring your whole self. It is easy to compare yourself to others and the traditional paths folks have taken to arrive in Genetic Counseling, often with a pre-med background and a fresh bachelor's degree in science. Take it from a proud recipient of a BFA (Bachelors of Fine Arts) that the niche passions you pursue can still inform and assist in your journey into new dreams and goals.

There’s Never a Dull Moment in a Pittsburgh Summer - Alex Schleicher

One of the most important lessons we learn in the Pitt genetic counseling program is how to balance professional success with self-care. Having previously lived in cities with millions of residents, I was worried Pittsburgh wasn’t going to offer the same level of events and excitement I find vital to my self-care routine. To my delight, I was very mistaken.

 

Consider this post a travel-guide to help incoming students fall in love with the city and current students in the throes of clinical rotations find some reprieve after a long day or week. Here I have summarized some city highlights as well as key resources that can be used as you find your own niche in this city we are lucky to call home.

               

Pittsburgh is a city that is small but mighty, offering endless activities, festivals, and patios to enjoy over the summer. My search began like most do these days, looking for local influencer accounts sharing happenings and must-visit spots throughout the city. Accounts such as:

          @visitpittsburgh
          @stufftodoinpittsburgh
          @ana.eats.pgh
          And my personal favorites; @pghcoffeegal and @foodismysavior_pgh

These creators skillfully share fun and exciting activities and local eateries that are bound to put a smile on your face while also providing an opportunity to socialize with your cohort family. 

There is one annual event in Pittsburgh whose reputation is so widespread, it is synonymous with the city itself:

Picklesburgh: July 18-21

For any newcomers, it is important to recognize that Yinzers (Pittsburgh locals) love pickles, a lot. So much so we have a free, weekend-long festival dedicated to all-things-pickled. Voted the #1 Specialty Food Festival in the US three times, you are sure to find a new tasty treat. Beyond just the briny cucumbers, they offer pickle pizza, pierogies, ice cream, cotton candy, beer, spirits, and more.

 

These remaining highlights are by no means exhaustive, but they are a great jumping off point to enjoy summer in our little corner of Western Pennsylvania.

 

Music and Art Festivals

It feels like almost every weekend there is an amazing art or music festival to visit in various neighborhoods around Pittsburgh where you can mingle and discover local culture.

 

-          Millvale Music Festival: Every May, 300+ music acts are showcased at this free community-organized event. This festival will take over the main strip of Millvale, where you can venture through the many participating establishments to hear music from reggae, jazz, country, rock, and beyond.

 

-          Pittsburgh Pride: The first weekend in June, Pittsburgh kicks of Pride month with countless activities and events throughout various neighborhoods. Along with the community parade, you can find free concerts and local vendors to support our inclusive community.

 

-          Northside Music Festival: June 14-16^th the historic Deutschtown transforms into a free indoor and outdoor festival where you can enjoy music from local bands while sampling tasty food from an array of food trucks and vendors.

Let’s Go Bucs!

Another thing newcomers quickly learn about Yinzers, is that they LOVE sports. We are lucky enough to have an NFL, NHL, and MLB sports teams for year-round entertainment. PNC Park, home of the Pittsburgh Pirates, has been repeatedly voted The Best Ballpark in America. Overlooking the Allegheny River and downtown Pittsburgh, there are few better ways to enjoy the beautiful summer weather with friends and family.  One added bonus is Pitt students can purchase select tickets at a 50% discount, making this an affordable group outing to cheer on our local baseball team!

 

I’ve been caught on many occasions calling Pittsburgh “pleasantly surprising”, since after two years as a graduate student at Pitt, I am still finding new and exciting things to help unwind throughout the year. I hope that these recommendations help new and current students feel the magnetic effect that Pittsburgh has on everyone who has the pleasure of living here.

Celiac in the City: A Student's Guide to Gluten-Free Pittsburgh - Megan Piechowicz

Over the past twenty-three years of my life, an abundance of experiences has shaped me into the person I am today. At six years old, I was diagnosed with Celiac Disease. A year of my family’s life was spent visiting at least a dozen pediatric gastroenterologists and other specialists. At a surface level, the solution seemed simple. However, seventeen years ago, eating gluten free (especially in first grade) was not as easy as it is today. Now, discovering new foods, and finding new restaurants to eat at, is one of my favorite parts of life. When I found out I would be leaving my small hometown to pursue my education almost 500 miles away, one of my first tasks became finding places to eat. Below is an abbreviated list, with photos, of some of my favorites that I have discovered in Pittsburgh within the last eight months!

 

Strip Steak, asparagus, and potatoes at Urban Tap in Shadyside

   

Pasta and salad at Girasole in Shadyside

   

Pizza and gelato at Mercurio’s in Shadyside

 

Chicken cashew dinner at Nicky’s Thai, downtown 

 

Grilled salmon with mashed potatoes and asparagus at Jason Aldean’s in North Shore

 

Sweet potato glass noodles at City Kitchen in Bakery Square

 

Crème Brulé at the Porch in Oakland

 

Pancakes at Square Cafe in Shadyside

In conclusion, my journey navigating gluten-free options in Pittsburgh as a student in the genetic counseling program has not only been an exciting adventure, but also a vital aspect of my self-care. Whether exploring new restaurants or indulging in homemade dishes with classmates, like our memorable Friendsgiving feast, the experience of sharing meals has provided a much needed rest from the rigors of our curriculum. I've embraced the profound value of taking time to savor moments spent eating, preparing, and conversing around food. It’s a simple, yet powerful, form of self-care that’s not only essential, but delicious as well.