If you’ve read my classmate Anna’s Fall Curriculum blog post from February, this format might seem familiar. I would encourage you to check out her post as well to get a sense of what the Fall half of the first year at Pitt GC is like. I’ll be giving my perspectives and thoughts about the courses from the first Spring of the program as shown on the right half of the image below:
This course is like the sequel to Principles of GC from the Fall taught again by Pitt GC’s Jodie Vento and Dr. Robin Grubs, meaning it is one of two main genetic-counseling specific courses that students take in the Spring. It is divided into two sections: 1) prenatal genetic counseling and embryology and 2) genetic counseling theory, process, and psychosocial considerations.
In the prenatal module, topics included general reproduction and embryology (including embryo coloring pages!), teratogens, assisted reproductive technology, and prenatal genetic testing. These were taught by some of the wonderful prenatal genetic counselors from Magee Women's Hospital here in Pittsburgh, who really helped break down some of these complicated topics (as someone that has struggled with developmental biology in the past). There were multiple class days dedicated to clinical application practice problems, and I felt like this was when I felt my clinical application skills really start to grow. Some other impactful highlights were a guest lecture on perinatal supportive care/bereavement and a patient panel.
In the psychosocial module, we learned about counseling theories and psychosocial assessment. We also began building our toolbox of skills for specific parts of a genetic counseling session as well as psychosocial counseling skills for topics such as empathy, grief, coping, transference/countertransference, and delivering difficult news.
Assignments included part two of our genetic concept explanation assignment in which we were tasked with explaining complicated prenatal genetics topics in patient-friendly language both in writing and on video. We also wrote our first patient letter for an assignment, which has been such a useful experience to apply to real patient materials I have created during my first clinical rotation this summer. Lastly, we attended a support group of our choice and wrote a reflection of how that experience will inform our future career as a genetic counselor.
Cancer
Genetic Counseling
Taught by Pitt GC’s Dr. Andrea Durst and many of the cancer genetic counselors around Pittsburgh, this is the other genetic counseling-specific Spring course. It focuses on the last of the three main genetic counseling specialties – cancer. The main cancer types related to genetic syndromes that we covered included breast, ovarian, pancreatic, gastrointestinal, endocrine, bone marrow failure/hematologic, and kidney. Some other interesting topics included learning about how to run many different types of cancer risk models, lectures on cancer management from physicians that work in the clinics we rotate in, and a lecture on somatic tumor testing. Overall, this course is fast-paced but full of useful information to take into your cancer rotation.
Chromosomes
- Structure and Function (“Chromosomes”)
This course, co-taught by our department chair
Dr. Quasar Padiath and Dr. F. Yesim Demirci, is essentially exactly what you
think it would be; it’s everything you could want to know about chromosomes.
This included chromosome structure, mitosis/meiosis, all the types of
chromosome abnormalities with techniques to investigate and name them,
imprinting disorders, sex chromosome differences, epigenetics, and cancer.
There isn’t much to show from this class, as it was mostly traditional exams.
However, enjoy this diagram I made with CyDAS, a website where you can create
custom ideograms for any karyotype or derivative chromosome. This one shows a
Robertsonian translocation between chromosomes 13 and 21, which represents one
of the possible ways someone could have Down syndrome that isn’t caused by
trisomy 21.
Ethical
Issues in Genetic Counseling (“Ethics”)
This course was taught by Robin and Dr. Michael Deem, a bioethicist. As you could imagine, this class was mostly discussion based, with the only assignments being approximately-weekly quizzes about the readings. Some of these topics included informed consent, genetic screening, psychosocial and ethical aspects of genetic testing, disability studies, precision medicine/gene therapy, and consumer-driven genetic testing. My previous experience in bioethics and medical humanities in undergrad served as a great foundation to build these genetic-counseling specific considerations from. These conversations truly expanded my perspective about the role of genetic counselors and the broad ethical discussions that are taking place at the forefront of the field in which there is not often one simple answer.
Bioinformatic
Resources for Geneticists (“Bioinformatics”)
Led by Dr. Kang-Hsien (Frank) Fan, this course
reviewed online bioinformatics databases, tools, and resources that are useful
for genetics researchers and clinicians. This class was full of self-led
problem solving in exploring these databases to answer both research and
clinical questions, ending with an in-class group assignment combining all the
topics together. This class was invaluable in building my skills for
researching genetic variants and conditions, which I have already applied to
researching and disclosing results to patients in my first clinical rotation
this summer. Some resources that have been incredibly useful for my clinical
rotations include UCSC Genome Browser, OMIM, GeneReviews, ClinVar, and ClinGen,
among many others. A UCSC Genome Browser search for the Sonic Hedgehog gene (SHH) is shown below:
Genetic Techniques
Our one wet lab course in the curriculum was taught by Drs. Zsolt Urban and Guillermo Rodiguez Bey, with some additional guest lecturers including experts at the UPMC cytogenetics lab. The highlight of this class was definitely being able to do G-banding and FISH (fluorescence in-situ hybridization) on our own blood samples over the course of a few weeks. As you can see below, the first image is a picture of my G-banded chromosomes (a karyotype), and the second image is FISH using fluorescent probes for my X chromosome (orange/pink) and my Y chromosome (green). Some other genetic techniques we used included PCR, gel electrophoresis, RT-qPCR, and sequencing. We also selected a genetics case study paper of our choice and presented it to each other at the end of the semester.
If you don’t have any lab experience before
grad school this class might, understandably, feel a little intimidating at
first. However, our professors were so supportive, and the class is more about
the things you learn along the way than feeling like you have to get the
expected result for every experiment. Our lab groups were made to have at least
one person that had lab experience, so you’ll have your fellow students to
support you as well. And if you do have some prior lab experience like I did,
I’m sure you’ll get the chance to learn something new or try a new lab
technique!
Special
Studies (Simulations)
Lastly, we had our four patient simulations for the Spring semester throughout April. We have a patient simulation center associated with the Pitt Medical School that has fantastic simulated patient actors. Before our first simulation, we had a whole-session roleplay with our second year buddies, and program leadership helped us review our outlines for each simulation. For the first three simulations (one for each major GC speciality: pediatrics, prenatal, and cancer), we were split into two groups of six, and we traded off parts of the session in 15 minute sections while being moderated by a member of program leadership. The last simulation was a 20 minute genetic testing result disclosure session with each of us alone in the room. Simulations were admittedly scary at first. Looking back right after having done my simulated patient assessment at the end of my first clinical rotation, the set of simulations in the Spring were such a beneficial source of growth and confidence. These first simulations were when I started feeling some of the pieces of the puzzle coming together as I began doing parts of a session for real.
Conclusion
Hopefully this outline of the first Spring
curriculum was informative! There are certainly more moving parts than the Fall
(not to mention starting to narrow down your thesis topic in the Spring). But
this is also the time where I started really feeling settled in the program and
my confidence was growing as topics from all of the first-year courses began to
connect together, which has translated well into setting me up for my first
clinical rotation. I look forward to seeing how this foundation supports me
throughout the rest of my rotations and second-year coursework.
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