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!