Springtime Shenanigans:

The top ten things #PittGC students look forward to in the spring!

Although the weather in Pittsburgh has been nothing more than temperamental this year, it is finally starting to feel a bit like spring. So it’s time for our students to get outside and enjoy some sunshine...or stay in when it decides to rain (or even snow!).

A view of the cathedral of learning #HailtoPitt

  1.     Mt. Washington. On a clear day, going to Mt. Washington is a breathtaking sight. Seeing the city helps you appreciate where the Allegheny, Monongahela, and Ohio rivers meet. Not to mention, downtown looks gorgeous as well and you can take the Monongahela Incline!

The view! 

2.     Lumberjaxes. A good way to get some stress out, or have some fun, is axe throwing! You may even find yourself picking up a new hobby.

Just taking a study break and a stroll (Frick Park)

3.     A stroll through the park. With Schenley, Highland, and Frick parks, it’s easy to find a spot to go for a quiet, afternoon stroll. When you’re admiring the woods of Schenley Park or skirting the reservoir at Highland, you can forget you’re in the city.

4.     Phipps Conservatory. Right now, there is a butterfly room at the conservatory. In addition to seeing the beautiful blooms, you can watch these colorful creatures flit about without worrying they’ll fly out of your sight forever.

5.     Get a tea or a coffee. Don’t forget that your favorite cafe most likely offers cold versions of that Japanese Sencha you like so much! Cold brew season is upon us, and with hotter days spring-ing into Pittsburgh, it can certainly be needed. Plus, it’s important to stay hydrated

6.     Teatime. If it’s not enough to just grab a quick drink, there are some tea houses that have teatime once a week - so put on your teatime best and get ready for finger sandwiches.

                                                                                                                                               

7. Baseball anyone? Pittsburgh has sports for everyone all year round. This time of year is the perfect time to catch a game at PNC Park. You can watch the game and try out the “Tastes of Pittsburgh” (the food court at PNC Park) which includes famous Pittsburgh eateries like Primanti brothers, Mrs. T’s Pierogies and more traditional baseball food.

Spring means baseball season has started!

8.  The Roberto Clemente Museum. The legacy of baseball great Roberto Clemente can be found in a retired fire station near downtown area, it boasts an impressive amount of memorabilia, awards and photos of a Pittsburgh baseball hero. Clemente was born in Puerto Rico and used his baseball prowess to escape poverty. Clemente would go on to  have numerous awards and he was also posthumously inducted into the Baseball Hall of Fame (the first Latin American and Caribbean player to do so). He was also known for his philanthropic endeavors (such as earthquake relief missions). 

Roberto Clemente Museum (care of their website)

9.     Farmers market. It’s that time of year again, by the end of May the farmers markets will be back and amazing fresh fruit and vggies will be in your grasp. Many of our students love the Squirrel Hill farmers market, it is a great way to spend a Sunday morning.

10.  Dance in the park! Free weekly dance sessions in Schenley Plaza on Wednesdays starting May 30 through the rest of the summer. They start at seven and cover everything from Balkan dance to the waltz and the argentine tango!

Final Reflections: The Class of 2018

First get together at Mellon Park.

As the class of 2018 prepares to walk across the stage, they reflect upon the past two years of classes, clinicals, program activities, and time spent with friends. We know our graduates have the skills to make an impact on the genetic counseling world and wish them all the best as they set out as bona fide genetic counselors.

My time in the Pitt program has been one of the most transformative experiences of my life. I have learned so much and am excited to use these teachings as a foundation for continued growth throughout my career as a genetic counselor. The love, support, and laughs from my friends has, of course, been the best part of all. I am so thankful for everyone that helped Pittsburgh grow from a place where I went to school into another home. -- Emily Spoth

Celebrating the Fourth of July!

It feels simply surreal to be graduating. My goal for many years has been to become a genetic counselor, and now I am mere steps (and a large board exam) away from officially achieving that goal! It didn’t hit me until the conclusion of my last genetic counseling class that I am approaching the finish line. It still doesn’t feel real. I am incredibly excited for both myself and all my spectacular classmates who I’ve shared these last two years with. It pains me to see everyone going their separate ways, but I know all of us will have a positive impact wherever we go, and I am eager to hear about everyone’s new adventures in their new positions. I am immensely thankful for my time in the program, and I look forward to starting this new life chapter. -- Julia Stone

I am so excited to start my professional career as a genetic counselor. It was a long journey to get to this point, but I feel prepared to enter the workforce with the rigorous training I’ve had at Pitt. -- Emily Mazzei

#Selfies at NSGC!

Even though I have been in Pittsburgh for six years now, I have explored the city the most in these last two years through clinical rotations and adventures with my classmates! I have also grown the most as a person and professional in these years, again with the help of my classmates as well as the wonderful instructors and opportunities provided by the Pitt program. Despite being slightly nervous for my next steps as a full-fledged genetic counselor, I know I have been well trained and will always have my Pitt family to support me! -- Julia Verbiar

As graduation swiftly approaches, I can hardly believe that it’s been 2 years. I’ve known that I wanted to be a genetic counselor since high school and prodigiously researched genetic counseling programs, course curriculums, student bios and genetics publications for years in anticipation. However, none of this prepared me for the amount of personal and professional growth that I’ve experienced since becoming a part of the Pitt Genetic Counseling Program. I’m both exhilarated and sad to venture out into the “real world” bursting with all of the knowledge, experience, and support my incredible classmates, teachers, and advisors have provided. Hail to Pitt! -- Joya Petersen

An impromptu lunch at Prince of India during restaurant week.

Right now I find myself standing with one foot firmly planted in graduate school and one foot toeing its way out of the door into the “real” world. It is both a terrifying and exhilarating feeling. I can still remember the same electric feeling, sitting in my dorm room six years ago and deciding that I would rather pursue a career in biology and genetics than in journalism. The fear that it could be the wrong choice or the perfect choice swimming around my head as I enrolled in chemistry two weeks after the semester had begun. I am so thankful to have had these past two years within Pitt’s genetic counseling training program. While the journey was certainly a bumpy one, every success - and every failure - has shown me that genetic counseling is the right career path for me. I have learned so much from Robin and Andrea, and the rest of the Human Genetics department. In clinic, I have watched understanding fill someone’s eyes when I explain a particular condition or that they do not need BRCA testing. And I have spent what feels like too little time making memories with my wonderful classmates. I know Pitt has prepared me to become a great genetic counselor, and I think I’m ready to take the final step out of the door. -- Meg Hager

Axe throwing champs!

I am so grateful for the wonderful education and clinical experiences that I received at Pitt. I feel very confident entering into the workforce, and I owe it to all of the exceptional mentors that I have had over the last two years. -- Jackie Amurgis

The moment that I have envisioned since I was in high school is almost here, officially being a genetic counselor! My time at Pitt has prepared me beyond what I could ever have imagined. It is definitely a bittersweet time saying goodbye to my classmates, Robin and Andrea, our rotation supervisors, the city of Pittsburgh, and so much more. I am looking forward to reunions with my classmates and visits back to Pittsburgh! -- Claire Leifeste

-- The Class of 2018

Choose Your Own Adventure: A Certificate Story

The University and the Genetic Counseling Program offer many valuable experiences, and Pittsburgh is never at a shortage of events or neighborhoods to explore, but prioritizing is paramount for a successful learning experience.  When I considered adding a certificate to my educational experience, I knew I needed to feel confident it was the right fit before I would be willing to make the commitment.  The main issues I considered were my personal connection with the certificate topics, how they would impact my practice, time obligations, and, to a lesser extent, logistics. What follows is an abridged version of my decision-making process before adding the LGBT Health Certificate to my graduate experience.   Full disclosure: I’m a huge fan of Excel sheets, so this was originally done in more of a weighted calculation rubric set-up, but a narrative of my decision-making seemed more reader friendly. 

I insisted on taking summer classes throughout college, taught for four years, and still consider nonfiction a pleasure to read.  In short, I enjoy learning.  In undergrad, I ended up adding a minor and a certificate because I just couldn’t quit reading course descriptions and signing up.  It may be a problem, but it’s also led to some of my most enriching educational experiences.  A Global Politics of HIV/AIDS course changed the way I view access to healthcare and the stigmas that surround certain diseases.  A community engagement course led to a position as a volunteer coordinator in a fair-trade store where I was stunned by the impact that micro loans and artisan ownership can have on the global economy.  The certificate program would once again allow an opportunity to step outside of the prescribed curriculum and explore how other public health concerns could impact our practice as genetic counselors.  While some seemed to be close to classes I was already taking, classes that would allow the greatest chance to meet other students and step outside of the expected were of the most interest.  Everyone identifies with different aspects of our healthcare system and it was exciting to see that Pitt Public Health takes this into account.  There was Health Systems Leadership and Management or Health Care Systems Engineering for those most interested in management and infrastructure.  Other courses seemed to offer a more in-depth look at topics touched on in our required classes, like Global Health and Public Health Genetics.  Because of my interest and passion in health equity, I was interested in certificates that focused on how minority groups navigate their healthcare and how I could facilitate access for these groups.  Several certificates allowed the opportunity to work with different communities, so I knew it was not a matter of whether or not to pursue a certificate, but which one to choose

As professionals, we adopt the tenets of our chosen careers.  Genetic counseling focuses on empowerment of our clients and a holistic, non-directive, egalitarian approach to healthcare.  It was this focus on access to services and the client-centered care that initially drew me to genetic counseling, and Pitt specifically.  My personal tenets aligned with ensuring that despite barriers, a patient was able to understand their options and select next steps that aligned best with their values and beliefs.  Being in the Human Genetics Department in the School of Public Health, we have the unique experience of gaining a deep understanding of the biology while looking more globally at how individuals fit into the population approach to medicine.  I knew this inclusive perspective would provide an excellent basis for my future career, but the certificate allowed me to further inform my future practice.  I had already identified a few options that I was passionate about, and wanted to see what links could be made specifically to genetic counseling.  I met with Robin and Andrea to discuss certificate options and, as always, they were extremely supportive.  We talked through the various options, and although I felt that the Health Equity certificate may have the easiest translation, they could tell I was most interested in LGBT Individuals’ Health and Wellness.  I was passionate about the queer community’s rights to family planning and how they might use genetic counseling services in a unique way.  The final step was to contact the Director of the certificate, Dr. Ron Stall, to see how I might fit into the program. Within one conversation, he had given me no less than three thesis ideas connecting LGBT health and genetic counseling.  His excitement assured me that taking on these extra classes could have an impact on my learning and hopefully the field. 

Each certificate has unique classwork and practicum requirements.  The LGBT certificate involves three required courses, seven elective credits, a thesis project, and a practicum.  I wanted to make sure the schedule would still allow me to finish by the spring semester of my second year.  I work 20 hours a week remotely as a data entry clerk for a cancer genetics company.  Having the flexibility to work from home allowed me to work in a class this semester.  Moving forward I will have to find space for at least two classes and ensure that my thesis is focused on an LGBT health topic.  Dr. Stall worked with my schedule to make sure I could start on the coursework right away and the required classes are helping me to begin work on my thesis in a timely fashion.  As I’ve found with Pitt in general, the faculty is willing to go above and beyond to make sure your educational opportunities align with your future goals.  So as far as time commitment, I have had to add a few classes, but the faculty has been extremely accommodating about what classes qualify and how they would work in my schedule. 

The last consideration was the logistics.  No discussion about higher education is complete without some consideration for expense.  The Pitt program is very aware of the financial burden graduate students take on and is always willing to work with you.  While taking extra classes will inevitably mean more money, they have been very helpful about planning the timing of courses and ensuring the financial aid has been lined up.  Because so many of the human genetics students are genetic counseling students, classes in these programs often don’t conflict, but the same is not true when you step outside of the department.  Andrea and Robin were able to help me look at the schedule and move it around so I could meet all the requirement.  Honestly, I cannot stress how reassuring it’s been to have the faculty rooting for me and removing the road blocks along the way.  For me, the extra money and added hours were well worth the promise of this unique addition to my degree. 

In my case, all roads pointed to the certificate program.  After taking my first class this semester, my choice has been validated.  Advanced Topics in LGBT Research  required us to choose a LGBT health disparity and write a grant proposal for a future research endeavor.  The opportunity to work with students in other departments in an intimate, discussion-based atmosphere is one of the highlights of my week.  I would encourage anyone to just take a quick scroll through the website to see if you can spot a possible creative connection between genetic counseling and one of the other certificate topics.

Just a final note on a certificate versus dual degree:  Pitt also offers a dual MPH option.  As I divulged earlier, I find it nearly impossible to say no to an extra class, and so I also considered this option.  It required a lot of soul searching to decline that opportunity.  Because of my interests in research, my timeline for finishing the course, and outside obligations, the certificate was a better fit for me.  I had completed a Masters in Research last year and knew that the MPH focus was not where I pictured my career going.  Both the dual degree and certificate programs are wonderful options and warrant consideration before making your final decision for genetic counseling training. 

Kelsey Bohnert - Class of 2019

Student Research Experience: Inborn Errors of Metabolism

I work as a Graduate Research Assistant at Children’s Hospital of Pittsburgh of UPMC, specifically assisting the Medical Genetics department’s ongoing clinical trials and other research projects in the area of inborn errors of metabolism. Working in this environment has helped elaborate on many facets of our program’s curriculum by showing that there are many ways to work meaningfully as a genetic counselor.

One study estimated that approximately 1 child in every 1,400
live births is diagnosed with an IEM.

Inborn errors of metabolism (IEM) is a name for a group of rare genetic diseases that affect the way a person’s body processes different substances, like proteins or sugars. While each type of IEM is generally quite rare, altogether these conditions are not infrequent diagnoses; one study carried out in British Columbia and published in 2000 (Applegarth et al) found a total incidence for IEM of 1 in every 1,400 live births. The severity and time of presentation for IEM can vary greatly between specific disorders, and even within one disorder. A disparity also exists for the availability and efficacy of treatment among IEM, which is why clinical trials and research are so important for the families touched by these conditions. Some conditions may be lethal in the neonatal period, while others are associated with little to no symptoms. Because metabolism is entwined with the food a person eats, some IEM, like phenylketonuria or phenylalanine hydroxylase deficiency (PKU), are considered to be very treatable with a protein-restricted diet. Even treatable IEM can bear the burden of strict lifestyle changes, financial costs, disease complications, and other sources of stress that affect a person’s quality of life.

Coordinating studies involves many parts that require lots of
thought, planning, and the occasional papercut.

My part in the important work done by Children’s Hospital is to support the study coordinators in the smooth facilitation of the studies. This can involve review of study subject medical records, data entry for different disease databases, creating recruitment letters for up-and-coming studies, calling subjects to clarify or receive more information regarding various outcomes, and yes, even the joy of filing all of the paperwork associated with the studies. While the latter has come with the odd papercut or two, the benefits I have received from the work has far outweighed this risk. As a genetic counseling student, this work has perhaps made me more familiar than the average student with the presentation, treatment options, and patient experiences in IEM, a vast and sometimes daunting disease category for learners such as myself. While every patient and family will have unique experiences, my work has allowed me to see some overarching themes in the sources of stress caregivers and patients can have. I feel this has been an irreplaceable part of my education, and I hope what I have learned has and will continue to have made an impact on the level of support I am able to provide to families.

While genetic counselors may take on several tasks that
are seemingly unrelated to patient care, their efforts make
a positive impact on patients' lives.

In an ever-changing environment for the field of genetic counseling, where many more genetic counselors are working in laboratories or in research positions, this student work has also given me a close-up view of the important roles these genetic counselors play. Before my time in this position, it was easy to imagine that these genetic counselors were several degrees removed from patient care. I now know that this is not the case. In addition to the nurses, dietitians, doctors, and other providers I have interfaced with as part of my work, the genetic counselors I have gotten to know through this work make such a difference in the care of the families in IEM with their unique understanding of the social and biological impact of these conditions. I consider myself indebted for the quality of their mentorship. This work has undoubtedly provided me with a stronger interest in research, a better understanding of the evolving genetic counseling field, and I think most importantly, a greater appreciation for the struggles and successes had by patients and families affected by IEM.

-- Jenni Peck, Class of 2018

Inside the Center for Craniofacial and Dental Genetics

The Center for Craniofacial and Dental Genetics (CCDG) is a unique, specialized research center located within The University of Pittsburgh's School of Dental Medicine. Collaborating with researchers from around the world, the CCDG team works to identify novel genes and environmental factors influencing craniofacial development and pathology.

Orofacial clefting (cleft lip and/or palate), one of the most common structural birth defects in humans, has a complex genetic etiology and is an active area of research for the center. Currently, our understanding of how and why orofacial clefts develop is far from complete, which often prevents precise clinical risk assessments for families affected by clefts. The CCDG team's work is making progress towards closing those knowledge gaps. The center also studies the epidemiology of dental caries (cavities) in rural Appalachia, with the hope of understanding the population's higher incidence of dental caries. Understanding the genetic factors pre-disposing individuals to the development of caries, and the interaction of those genes with the environment, can help to tease out causal factors and also, potentially, shed light on health disparities.

Aside from studying these conditions, another important research goal is to uncover genes which influence normal craniofacial development, and to explore the limits and variation of human facial features. Current and ongoing studies at the center involve the analysis of anthropomorphic measurements of the face and genome-wide association studies to explore associated genetic markers influencing the shape and size of facial structures: the eyes, nose, lips, brow, etc. Understanding normal facial development is a fundamental step in understanding pathways of associated pathologies.

As first year graduate student workers at the CCDG, we provide a variety of administrative support to the research team. Most simply, our duties include data entry and cleaning, pedigree verification and construction, and assistance with the maintenance of the center's massive amount of data and subject files (collected over decades!).

The data entry and file organization are certainly not the most glamorous part of a research project, taking part largely "behind the scenes", but like the work of a black-clad theatre set crew, our data entry efforts are essential to the research production. Along the way so far, we've learned much about the complexities of survey design, seeing questionnaire versions change and improve over the years as researchers figure out what works best, file systems, and spreadsheet/database construction for mass data analysis.

When we enter our second year and become more involved with the research itself (how exciting!), this experience of seeing the nitty gritty intricacies of such a large-scale research effort will remind us of the immense amount of leg-work done in order to build the rich data sets we have the opportunity to probe. The CCDG affords us an hourly job, a wonderful group of motivated researchers and co-workers, and valuable resources for our future thesis work.

In the following passage, we've each included a few words to describe our individual experiences and impressions working with the CCDG.

The first thing I noticed when I started working at CCDG was the welcoming atmosphere – from detailed directions on how to arrive for our first day to surprise treats in the breakroom. The staff did not hesitate to make Charlotte and me feel part of the team. I am looking forward to continuing to work at such a dynamic center and digging through more data for my thesis project!

-Alyssa

The staff and researchers at the center are fantastic, as Alyssa mentioned, they are always happy to lend a hand and check in about your day. It was also exciting how responsive the group was to our request for a meeting to talk about projects and our thesis work. Getting together with the researchers and brainstorming about the many ongoing and upcoming projects we can take part in was exciting and inspiring. 

-Charlotte   

Investigating the Etiology of Treatment-Refractory Depression

Treatment-refractory depression is depression that has not
responded to at least two courses of antidepressants.

In addition to my classwork and rotations, I work as a research assistant with Dr. Lisa Pan in the Department of Psychiatry. Dr. Pan’s research has investigated the etiology of treatment-refractory depression – depression that has not responded to at least two courses of antidepressants. A number

of individuals with treatment-refractory depression have significant family histories of mental health issues. Some of Dr. Pan’s recent work has evaluated patients’ cerebrospinal fluid for molecules involved in the metabolism of neurotransmitters. Discovery of deficiencies in patients has allowed for supplementation of missing metabolites, which has been remarkably successful in improving their depression symptoms. Researchers associated with the study are now performing genetic analyses to determine whether genetic variations are associated with patients’ symptoms. My work with Dr. Pan involves documenting patient pedigrees, investigating genetic analysis findings, writing a case study, and preparing to deliver results to a patient.

Working in research has reinforced how quickly things evolve in genetics. New findings occur every day, and treatments are developed to improve the health of patients. Seeing this aspect of genetics gives me a new appreciation of how the information and treatments we provide patients in clinic were developed. Accepted treatments were once experimental approaches. As additional knowledge about the genetics underlying psychiatric diseases emerges, new therapeutic approaches may emerge.

Connecting genetic factors to treatment-refractory depression
and other psychiatric disorders may help scientists find new
treatments for these illnesses by unlocking another piece of
the puzzle.

Genetic counseling related to psychiatric disorders is a new and growing field. Since psychiatric disorders, such as depression, bipolar disorder, schizophrenia, and autism, are complex, strong genetic associations have been difficult to identify; however, significant strides have been made in determining genetic and environmental contributions to mental health. Family history of psychiatric disorders can increase the likelihood of an individual developing a mental health condition. Certain genes have been found to be associated with some psychiatric disorders. With knowledge about psychiatric disorders and genetics increasing rapidly, development of guidelines about genetic counseling in relation to mental health is important. At the 2017 NSGC conference, I had the opportunity to join a meeting of the Psychiatric Special Interest Group, with other genetic counselors interested in advancing the field of psychiatric genetic counseling. We discussed ways to address family and personal histories of mental illness that come up during genetic counseling sessions as well as specialized clinics for psychiatric genetic counseling.

Being able to work with research finding new connections between depression and genetics and seeing these connections directly applied to help patients find relief has given me insight into current and future needs in the genetic counseling field, and I hope to use this perspective and knowledge to help my future patients!

-- Kaitlin Sullivan