Friday, December 16, 2016

Reflections on Our First Semester

As the class of 2018 approaches the end of their first semester, they offer the following reflections on their first semester in the Genetic Counseling Program.

"This whole semester has been a whirlwind of learning and engagement opportunities that will strengthen my future practice as a genetic counselor. I really enjoyed a bereavement training we attended in October, because it made me think about the impact genetic conditions have in a family’s life and how important it is to educate them on all of the medical decisions they can make in a given situation." - Meg H.

"I had the opportunity to help give a presentation to college students introducing them to the field of genetic counseling. I enjoyed the teaching experience and was glad I could help increase knowledge about genetics, as it is such an important public health goal." - Claire L.

"I really enjoyed the opportunity to speak to potential students at open house a few weeks ago. It was great to speak about the Genetic Counseling Program and the field with interested, engaged individuals. There was the added bonus of reminding me of how far I’ve come in just a year!" - Emily S.

"I have really appreciated the patient and family interactions I have had exposure to through both our genetic counseling class as well as my student job. Hearing from those with genetic conditions (and their family members) gives us a great perspective we would miss out on if we only studied the science behind the condition. I am continually amazed by the lengths to which parents go in order to help their children to thrive with genetic conditions. Keeping the patient perspective in mind has helped me stay focused on why we do what we do. " - Jenni P.

"Volunteering to care for some wonderful kids with muscular dystrophy while their parents attended a meeting about developments in research and advocacy was my favorite part of the semester. The three amazing, hilarious, and energetic boys kept us entertained for hours, and it gave me extra understanding that the diagnoses, research, and testing we and other healthcare professionals deal with are about so much more than words and statistics. All of my volunteering experiences through the years, particularly this one, have reminded me of the personal effects of work in science, and given behind-the-scenes look at families affected by healthcare and genetics work. That experience truly enriched my learning and will affect my relationships with families and clients forever." - Kaitlin S.

"I really enjoyed getting a chance to speak with potential applicants about the Genetic Counseling Program during the open house and to patients and their families during classes. These experiences reminded me how excited and appreciative I am to be here, as I tend to focus on the details of the process instead of the big picture of becoming a genetic counselor." - Julia V.

"Having the opportunity for physicians, genetic counselors, and families to come and speak during our classes and share their opinions and experiences related to genetic counseling was a fantastic experience. I feel as though I have gained a better understanding of their perspectives and concerns and have become more comfortable interacting with patients and other members of the healthcare staff." - Joya P.

"If I had to describe this semester in one word, I would call it surreal. Thinking back over the last few months, it is amazing to me how much we as a class have learned, experienced, and grown. I particularly appreciated how, throughout the semester, we got to interact with a variety of patient advocates and clients. Hearing their individual stories and their perspectives on the field was immensely inspiring, and it was a great reminder of why I wanted to be a genetic counselor in the first place. Through my new student work position, I have also met and collaborated with multiple individuals in the Duchenne Muscular Dystrophy (DMD) community, which I have found incredibly rewarding." - Julia S.

"Beginning this semester at PITT was a bit surreal, the materialization of years of education and planning finally come to fruition.  As the semester progressed I found myself immersed in the environment I had been so excited to become a part of.  Lectures from leaders in the field of genetics and families with personal stories of struggle and success littered the courses.  Cutting edge research techniques were discussed as elevator chatter.  Finally, I was home." - Seth L.

"I cannot describe how much I have learned this semester. Let me tell you that graduate school really is as hard as everyone tells you it is, but that the payoff is worth all of the effort. Here at Pitt we’re constantly being provided with opportunities to grow both as individuals and as future genetic counselors.

One of my favorite learning experiences this semester were our panel discussions. One of the panels was held as a part of our Friday Seminar Series and the other was held during one of our Principles of Genetic Counseling classes. The first panel was focused on Huntington’s disease (HD) and included both families and individuals affected by HD and two social workers who work at the Western PA Chapter of the Huntington’s Disease Society of America. The stories they told were truly gripping and I imagine they will stay with me throughout my career. The second panel discussed Down syndrome, and included families who had a child with Down syndrome. They described what it was like for them as a parent and the experiences of their families.

One thing we may temporarily forget during our studies, in the midst of learning the Krebbs cycle for the umpteenth time, is who we are doing this for. These panels were a reminder of why we are training to be a part of this field. Learning the clinical symptoms of various genetic conditions and hearing first-hand how individuals and their families live with these conditions are both extremely important things to keep in mind. We need to have a strong knowledge base but, more importantly, we need to empathize and try to learn as much as we can from people who have been touched by these conditions, so that we can advocate for them and provide the best counseling we are capable of." - Emily M.

"I feel as though the teaching style used in all of my classes this semester has helped me to further develop my critical thinking skills. They all provided cutting-edge information from the field of genetics and focused on how this information can be applied in a real world clinical or research setting and therefore made me feel as though I was taking the first foundational steps into transitioning from a student into a health care professional. I also enjoyed the opportunity that I had to speak with undergraduates at the university about the genetic counseling profession. This opportunity allowed me to voice my passions about why the field is important and to hopefully encourage more people to pursue a career in genetic counseling." - Jackie A.

Friday, December 2, 2016

Student Research: Center for Craniofacial and Dental Genetics

I am a graduate student researcher at the Center for Craniofacial and Dental Genetics, which is housed in the School of Dental Medicine at Pitt. The main goal at CCDG is to identify genetic modifiers for complex craniofacial and dental disorders in humans. I am fortunate enough to work with Dr. Seth Weinberg on trying to identify genetic factors that contribute to certain facial features. Changes in facial features related to the distance between the eyes, for example, are seen in a number of genetic disorders. We are attempting to identify common genetic variants that may contribute to eye-spacing in an unaffected control group called 3D Facial Norms. The 3D Facial Norms Database was created to provide a high-quality control group focusing on craniofacial anthropometry, or facial measurements.

Earlier in 2016, the team at CCDG published a paper about the results of their genome-wide association study on the 3D Facial Norms Repository. This study showed that multiple genome-wide significant loci found in genes related to craniofacial development contribute to normal human facial features. One of the facial features found to be involved is inter-canthal distance, or the distance between the eyes. This research led to my thesis project. I selected forty candidate genes that are thought to be involved in craniofacial development and conducting an analysis to determine if inter-canthal distance (distance between the inside of the eyes) or outer-canthal distance (distance between the outside of the eyes) is associated with the selected genes.

An example pedigree

Besides my thesis work, I am also involved in two major projects within CCDG. I, along with another second year genetic counseling student, am working to review pedigrees from research participants, which involves over 5,000 families, and identify potential Mendelian patterns of inheritance of cleft lip and palate. We are in charge of classifying each family as autosomal dominant, recessive, X-linked, reduced penetrance, etc. This has been helpful for our future roles as clinical genetic counselors because it has sharpened our pedigree analysis skills.

The other project is the Syndromes Project. When we have a participant in our orofacial clinic study, an extensive demographic, medical, developmental and dental history is taken. We are trying to identify individuals with medical conditions suggestive of a genetic syndrome based on the answers they provided in the above history forms. Since CCDG is ascertaining individuals who have isolated cleft lip and palate (not a part of a genetic syndrome) it is important that it also identify the families that may, in fact, have a genetic syndrome in these two projects.

I think that working at CCDG has helped me gain a new appreciation for the research process as a whole and I am very grateful for having the opportunity to work with a great team of scientists every day!

- Samantha Wesoly, Class of 2017

Friday, November 11, 2016

Autumn in Pittsburgh

1. Go see a game!

Fall is a great time for sports fans, and Pittsburgh does not disappoint! Football fans can see both Pitt and the Steelers play at Heinz Field. Hockey fans can watch the Penguins on the CONSOL Energy Center. PNC Park hosts the Pittsburgh's baseball team, the Pirates, as well as a great view of the city skyline. 

2. Visit Phipps Conservatory 
With exhibits changing by the season, you don't want to miss the Fall Flower Show which features chrysanthemums and other autumn bloomers.

3. Apple Picking

With many orchards just a short drive outside of the city, it is easy to take advantage of such a fun opportunity. Cut out the grocery store and pick perfect, delicious fruit to take home with you. 

4. Enjoy a Festival

Events and activities continue all around the city through the season. There are the Night Markets in Squirrel Hill which feature local artisans, food trucks, and entertainment. There are various music festivals featuring a variety of genres, with the prefect weather for outdoor listening. 

5. Take in the sights. 
Fall in Pittsburgh is the essence of what everyone loves about he changing seasons. The weather gets cooler and the trees light up with hues of yellow, orange, and red. Pittsburgh boasts a number of parks throughout the city, many within walking or biking distance of campus. It's great to take advantage of the green spaces while they are more colorful than ever.

Friday, October 28, 2016

Optional Rotation: Child and Adolescent Bipolar Spectrum Services

The field of genetics/genomics is currently one of the fastest growing in science.  Every day, new variations in the human genome are discovered and their potential effects on the body are delineated.  Some mutations and changes have easily understood effects that accompany them, while others are do not have such clear cut answers.  One area that has been captivating scientists for years is the genetics of mental health.  There has been significant research conducted concerning this field of study, and while some results have been promising, such as that of a recent team that discovered singlenucleotide polymorphisms (SNP) more common among individuals with schizophrenia , scientists have largely not found any consistent clinically significant genetic changes that contribute to an individual’s mental health.

Last fall, we had the pleasure of having Dr. Jehannine Austin, president of the National Society of Genetic Counselors (NSGC), talk about her experiences running the first ever genetic counseling clinic specifically targeting patients with psychiatric disorders.  Although genetic testing is not available for these patients, Jehannine and her colleagues were able to speak to them about the multifactorial nature of their disorders, how both genetic and environmental factors were tied to their presentation.  Listening to Jehannine talk about how these services she and her team provided peaked my interest in potentially being a future resource and a genetic counselor who would value the opportunity to counsel patients on mental health disorders.  This was one of the reasons why I chose to pursue an optional rotation at the Child and Adolescent Bipolar Spectrum Services (or CABS clinic.)  The clinic services youths with bipolar disorder, following their treatment, providing therapy services, coordinating other aspects of care such as school services, following up with inpatient treatments, and offering clinical research opportunities for those who qualify.  I went in with the hope that I would leave the rotation with a better understanding of pediatric psychiatric disorders, as well as the treatment and management options that follow after diagnosis.

The CABS clinic was gracious enough to allow Brooke Hornak, Michelle Morrow (who also share the same interest as I do) and me to join their team for a month.  The experience I had there was absolutely incredible, and although I was only there for a small portion of time, I feel that through my observations I was able to learn much about the intricacies of medical psychiatric care. During my rotation, I was able to observe intake sessions and medication and treatment follow-ups.  During intake sessions, new patients were seen during two different appointments.  During the first session, patients were asked a series of very detailed interview questions by a therapist or social worker that helped to determine the child’s experience with mood changes and overall mental health.  Questions were also asked regarding past medical, developmental, educational, and social history, and any reports of trauma or abuse.  The second session involves a review of the information, and is followed by a discussion with one of the psychiatrists about whether or not the individual meets any mental health diagnosis criteria.  If the psychiatrist believes that they do have bipolar disorder, the patient then has the opportunity to continue care through the CABS clinic or through another psychiatric care facility.  These intake sessions were extremely interesting to observe.  The questions often resulted in very difficult answers.  Many children as young as 3 or 4 presented with a past history of trauma, and had significant psychiatric symptoms as well.  However, all of the clinicians were extremely kind, patient, and thorough with the patients and families, and by watching them I truly feel that I learned important skills in terms of counseling individuals with seriously negative psychosocial events in their pasts.

I also had the opportunity to observe the psychiatrists as they followed up with their patients about treatment and their progress.  During these sessions, it was very apparent how much the child’s bipolar disorder could affect the entire family.  Many parents and siblings became visibly emotional, and felt tired and even helpless.  However, once again, the clinicians at the CABS clinic expertly addressed these concerns and worries head on, which was inspiring to watch.  As a genetic counseling student, one of our roles that we consistently learn about, is that our field has a focus on tending to the whole patient, not simply addressing only their medical diagnosis and treatment, but the psychosocial issues that may come with it.  Being able to observe these sessions showed to me how truly important it is to care for the mental health of the entire family as well, so that the family could function well for the good of the patient.

My time at the CABS clinic was exciting and inspiring to me.  Watching and learning from individuals who have mastered a plethora of psychosocial skills was incredibly valuable to me during my clinical rotations.  Seeing children and families affected by bipolar disorder, and the strength and resilience they showed during treatment, pushed me further to pursue a genetic counseling position that would directly help individuals with a history of bipolar disorder or other mental health disorders.  I know that my fellow students and I greatly enjoyed our learning experience, and I can only hope that future genetic counseling students can utilize the CABS optional rotation and learn from the wonderful team and families there.

 - Emily Massiello, Class of 2017

Friday, October 14, 2016

Optional Rotation: UPMC Hereditary GI Tumor Program

Upon entering the program, I had a strong interest in cancer genetics and wanted to take every opportunity to expand my knowledge in this area. For my optional rotation, I chose to spend three weeks with two wonderful genetic counselors in the UPMC Hereditary GI Tumor Program at Shadyside Hospital. Patients are referred to the clinic for a variety of suspected hereditary cancer predispositions. This may be due to a personal diagnosis or a family history of polyps or gastrointestinal cancers. During my rotation, I was able to see patients whom we counseled regarding Lynch syndrome, Cowden syndrome, and familial pancreatic cancer – all of which I had not yet had the opportunity to see as part of my rotations.

Before coming into this optional rotation, I had completed two general cancer rotations, so I had a solid understanding of how a general cancer genetic counseling session went. I was comfortable counseling patients regarding Hereditary Breast and Ovarian Cancer, and I was familiar with ordering gene panels for patients. I was able to take these skills and continue to build on them - addressing psychosocial issues in session, learning the nuances of cancer counseling, and crafting my own counseling style. Most importantly to me, I became intimately familiar with the numerous hereditary colon cancer syndrome criteria and guidelines that had initially felt overwhelming when I learned about them in class.

Another terrific experience I gained during this rotation was observing the same surveillance procedures I had discussed as management recommendations with patients throughout my rotations. Individuals at an increased risk for colon cancer and polyps have more frequent colonoscopies than the general population. Some of the cancer predispositions confer an increased risk for gastric, small bowel, and pancreatic cancer. The first two can be screened for with upper endoscopy and pancreatic cancer surveillance can include endoscopic ultrasound. Having observed these procedures, I feel that I can speak about them more confidently when describing them to the patients.

As a MS Genetic Counseling/MPH Public Health Genetics dual degree student, I felt that this rotation was extremely valuable as it gave me the chance to learn more about Lynch syndrome, which is one of the CDC’s Tier 1 conditions. The information that I learned in clinic has allowed me to participate more fully in my Public Health classes, especially those in which these Tier 1 conditions are discussed, which in turn allows me to help educate my peers who do not have a genetic background. The education of other healthcare providers and policy makers is going to be part of the multifaceted role I have as a practicing genetic counselor, which makes the education of my peers a valuable learning experience.

I am very grateful that I had this rotation experience. I think it was a perfect one for me as it allowed me to gain more experience in cancer genetic counseling sessions, get the opportunity to interact with patients with a variety of syndromes not seen as frequently in the general cancer rotations, and acquire knowledge that dovetailed with my Public Health classes.

- Emily Griffenkranz, Class of 2017