Favorite Things About Pittsburgh

When taking a break from our studies, we try to take advantage of all that the city has to offer. Here are some of the things that the Class of 2017 loves about Pittsburgh. 

Festivals and Events 

There are a lot of festivals and events going on throughout the city, especially at the Point and stadiums in the summer and fall. It's a fun atmosphere: people, music, entertainment, and food! A Pittsburgh favorite is Jam on Walnut which takes place during summer! Walnut Street shuts down and basically becomes a one-stop shop for food, drinks, and live music. However, with things going on every month, there is just no way to mention all of them, so be sure to check out the schedule for the year. 

Photo by AlpineInc

Sports

Pittsburgh is definitely a sports town with the Steeler, Pirates, and Penguins all located here. Pitt students often take advantage of discounted tickets to games. The Pitt football team shares Heinz field with the Steelers, so you get to watch school games in an NFL stadium. 

Repurposed Churches

Given the history of the city, many businesses like to reuse existing buildings in order to preserve the architecture. This also includes churches! Two good ones are the Church Brew Works which is a restaurant-microbrewery and Mr. Smalls Theater for live music.

Green Spaces 

Even though Pittsburgh is a city there are a ton of parks. During spring and summer, visiting Schenley or any of the other parks feel like a nice getaway without having to get of out town. There are a lot of great, safe trails to explore. It's relaxing to sit in the grass on a nice sunny day with a book. Plus there are free yoga classes at each of the parks on different days of the week. 

Photo by An Errant Knight 

Fittsburgh

Pittsburgh is a very active city. With Healthy Ride stations set up throughout the city, it's easy and cheap to rent a bike to commute or explore. There are a ton of runners in the city, regardless of the weather. You can hit the road solo or with one of the running groups. 

Food and Culture

The Strip and the Cultural districts feed your inner foodie. There are so many fun grocery and specialty shops to explore all in one place, it’s truly a cooking enthusiast's delight! If you don’t feel like washing dishes though, there are a ton of restaurants so there are always new places to try - it seems like every ethnicity is represented! 

Dinner at Hofbrauhaus

Interview Tips from 1st Year Genetic Counseling Students

Interview season is right around the corner for most programs, which can make many applicants nervous. Here is some advice from the Class of 2017 to help you prepare:

• Look up info about the program, university, rotation sites, and if possible, the interviewers. This will increase your confidence going into the interview and also provide more in-depth conversation topics or questions.

• Ask questions! You don’t want to leave an interview before your allotted time is up. You can ask about the interviewer's opinions, interests, or the field in general. It stimulates conversation and that’s what you want. Let your interests and intellect shine through the questions you ask.

• Do some research before your interview to find out what makes the program unique and why it is a school you would consider attending. Make sure you are clear in your interview that you know why you might want this program over others. 

• You’ve probably heard this from everyone, but really do try to be yourself.  You want the interviewers to at least get a glimpse of your personality so that they can determine whether or not you’ll be a good fit.  You’re going to be in school for 2 years, so you want to make sure it will be somewhere with people whose personalities and values really mesh with yours.

• Practice! You can’t guess all the questions that might be asked, but you know some of them. You’ll be a lot more natural and relaxed if you practice how you phrase things out loud before you get to the interview!

• I made a list of all the questions I wanted to ask. If they were not addressed during the group sessions, I made sure to ask them in the one-on-one sessions of interviews. 

• Be yourself. You want the program that best fits you personally. The only way to judge that is to remain as close to yourself as possible. Obviously, stay professional, and nerves are normal.

• Don't forget that you're a critic too. The program has to fit all of your needs. Ask questions. Make sure you're comfortable. 

• Remember genetic counselors are welcoming by nature - there's nothing to be afraid of!

We wish you the best of luck in all of your interviews!

Class of 2017

Newborn Screening Optional Rotation

Recently, I was given the opportunity to complete a newborn screening optional rotation at The Children’s Hospital of Pittsburgh. This rotation allowed me to participate in on-call cases for all newly diagnosed newborns as well as to see individuals in a follow-up clinic. This rotation provided me with a unique insight into the relationship that is formed between the medical team and families from the time of the initial diagnosis throughout adulthood.

Diagnosis of babies through newborn screening involves the expertise of a variety of different medical professionals. Once abnormal newborn screening results are received, the nurse contacts the patients’ pediatrician to alert them of the finding and allow them the opportunity to contact the families. Once a family is contacted, they are asked to schedule an appointment at Children’s Hospital for additional testing and to talk about the suspected diagnosis.

Once at Children’s Hospital, the family meets with a genetic counselor who obtains a family medical history, reviews the patients’ medical history, and explains the condition in detail. The patient is evaluated by a medical geneticist and based upon the evaluation, the geneticist may order additional testing that is needed to confirm a diagnosis, and may make referrals to other medical specialists. A dietitian is available to meet with families to talk about any dietary restrictions or supplements that may be necessary.

After all relevant testing has been conducted, the family is contacted regarding the results. At this time, the diagnosis may be confirmed or refuted. The medical geneticist will contact the family about follow-up, if necessary. If a diagnosis is confirmed, the patient is followed over time.

Long-term follow-up clinics exist which allow for a unique opportunity in that the genetics team is able to establish and continue a relationship with the patients and their families for an extended period of time. Many patients are seen every 6 months to 1 year and in the follow-up visits the genetics team updates the family history, reviews the patients’ diet and diet options, discusses any applicable medications or research trials, and assesses how the family is coping.

Throughout this rotation, I was tasked with taking family pedigrees, explaining conditions and inheritance, and exploring emotional dynamics associated with a life-long medical diagnosis. Overall, this was an extraordinary experience in that I got to see and understand the importance of newborn screening, I was able to work with multiple medical professionals, and was able to participate in building and continuing long-term relationships with families.

-Kerrianne Morrow, class of 2016

GeneDx Optional Rotation

Recently, I was honored to inaugurate the GeneDx optional rotation for the University of Pittsburgh Genetic Counseling program.  This rotation gave a tremendous amount of insight into the various roles a genetic counselor can play at a genetic testing company and how counseling skills can be used in alternative ways in the industry setting. 

The counselors organizing this rotation clearly put a lot of thought and care into providing a meaningful, hands-on, and varied experience.  The first week began with the Inherited Cancer group and an introduction to variant classification using the new ACMG guidelines.  

For the rest of the week, I was given a number of cancer gene variants to classify, which required an understanding of population databases, mutation databases, in silico models, functional studies and the ability to perform a thorough literature review.  The data gathered from these sources are then synthesized to determine a final classification for the variant.  

During the second week, I worked with counselors in Cardiology and Exome.  After being introduced to these programs, I continued to hone my ability to classify variants and also worked on crafting gene paragraphs as well as negative report writing.  

The third week was spent with Customer Service.  Over two days I observed the wide variety of tasks performed by Customer Service GCs such as fielding client questions by email and telephone, verifying that appropriate testing was ordered, flagging clients that may benefit from education services by the sales team, participation in the variant testing program, and opportunities for patient post-test counseling.

Throughout the rotation, I was also tasked with an independent gene vetting project.  I was asked to collect data that would aid in determining whether a new gene is ready for clinical testing or requires further research.  At the end of the rotation, I presented my findings to the members of the Inherited Cancer program.

Overall, this was an exciting and unique opportunity for an optional rotation that provided exposure to an area of genetic counseling that is experienced less often in the classroom and clinic-based rotations.

-Bess Wayburn, class of 2016  

Whole Exome Sequencing Clinic Optional Rotation

As some of my fellow classmates have previously mentioned, we each have the opportunity to choose an optional clinical rotation in a specialty area that is of interest.  I elected to learn more about the targeted exome sequencing that is ordered at the Children’s Hospital of Pittsburgh (CHP) by working with Marianne McGuire, MS, CGC.  Targeted exome sequencing looks at the entire exome of a patient, but the laboratory then only reports the variants and pathological findings in genes associated with the phenotype (or physical symptoms) of that patient; this approach cuts down on incidental findings.

The majority of the time spent during this rotation was dedicated to researching the variants and pathological findings in the reports from the laboratory.  This requires the utilization of a variety of resources.  For starters, I performed a thorough review of the patient’s medical history and what testing had been performed  in order to know how relevant certain suspected syndromes were within the context of that individual’s medical history.  Next, I researched the altered genes and their associated syndromes. 

The resources I used most often were the Online Mendelian Inheritance in Man (OMIM) database, mutation-specific PubMed articles, and GeneReviews.  To learn more about the specific genetic change, in silico models such as MutationTaster were utilized.  Another commonly accessed resource was the ClinVar database, which is built by laboratory data to help clinicians research the changes found in their patients.  Using all of these resources and the patient’s history, I sorted the reported variants into those that were not likely causal and those that were likely causal for the patient’s condition.  After this process, all of the variants and research were presented to the ordering geneticist and he/she suggested additional testing and referrals that needed to be performed based on the findings.  All of this research and collaboration was made into an individualized presentation for each patient and their family for when they came in for a genetic counseling session to discuss their results.  To wrap up each case, a summary letter was created for the patient and their team of physicians detailing the variations seen and the diagnoses found.

Another unique experience I had during this rotation was to enter patient physical findings into an established research database for those patients who were diagnosed with a specific rare syndrome based on exome testing.  I also had the opportunity to reach out to some of the previously diagnosed families to see if they’d be willing to speak with a newly diagnosed family about their child’s experiences since diagnosis.

This was certainly an incredible opportunity to learn more about an amazing testing process, and some unique disorders.

-Erin Winchester, class of 2016

2015 National Society of Genetic Counselors Annual Education Conference

Recently, the genetic counseling students attended the National Society of Genetic Counselors (NSGC) Annual Education Conference.  Here are some thoughts from our second year students about their first NSGC conference!

"Meeting so many successful and experienced counselors and being able to discuss varying aspects of the field with them, as colleagues, was very empowering.” - Erin

“I was amazed and inspired by Kristen Powers, and her documentary entitled “Twitch.” Kristen shared her journey to get tested for Huntington’s disease, and had very thoughtful answers to the questions posed by audience members about her experience.” – Amy D.

“I was surprised by how much fun I had! I met so many incredible genetic counselors ranging from new graduates to experienced pros, being surrounded by so many amazing and accomplished people was absolutely inspiring. I am so grateful and excited to be a part of this field” –Nikki

"I was very inspired by the lecture about Roe vs. Wade and Down Syndrome Information Acts. It was so intriguing to hear from a panel of experts that included a lawyer and English professor. As a student who is interested in law and ethics and how they interact with genetic counseling, the interdisciplinary lecture was a perfect fit! By the end, most of us in the audience had shed a few tears and felt a true call to action to advocate for our patients.” -Becca

“The conference in general was a great chance to meet GCs from around the country. Everyone was so friendly and excited to share advice with new grads as well as encourage us to apply for job opportunities.” 

–Amy B.

"The educational breakout sessions had a large variety of intriguing topics. It was an amazing experience to hear individuals at the top of their field explain revolutionary topics, debate ethical implications of technologies, and have general discussions regarding current and future practices. It is inspiring to see where our field has come from and what the future holds.”–Kerrianne

“I really enjoyed the session on CRISPR. The presenters raised many of the ethical debates and technical challenges of a new gene editing technology that may have a huge impact on the field. It’s important for GCs to be aware of these issues so they can be part of the conversation and help direct how this technology can be used responsibly.” 

-Bess

“The NSGC conference really made me feel encouraged by the growth of the field. It was so great to see that there are many genetic counseling jobs out there and that they WANT US! It is a nice reminder that we have worked hard, and all have a very bright future ahead with endless opportunities.” –Kelly

“I enjoyed having the opportunity to hear from and talk to so many genetic counselors in various specialties with a variety of backgrounds. Being in the environment itself, surrounded by people who are so interested in genetics and the advancement of genetic counseling was a unique and fun experience.” -Laura

“I really enjoyed the lecture on newborn and fetal exome/genome sequencing and the ethical implications that these useful technologies have in that setting. It applied to my thesis, but was also just generally interesting”. – Tricia

“I thought Dr. Austin’s address was up-lifting and powerful. It was inspiring to hear such a strong woman’s vision for the future of NSGC and the field of genetic counseling.” - Kristin

Prenatal Exome Sequencing – Are We Ready?

In recent years, exome sequencing has become an important diagnostic tool in genetics. Analyzing the protein-coding region of the genome, this test examines the majority of disease-causing genes to identify disorders that would otherwise be missed in individuals with multiple features not characteristic of one particular syndrome or condition. However, with the scope of such a complex test comes the possibility of genetic variants of uncertain clinical significance (VUS) and incidental findings unrelated to a patient’s clinical presentation. This complicates genetic counseling by adding more time, paperwork, and complexity to the consent and disclosure processes.

While not currently available in the prenatal setting, it is likely that exome sequencing will soon be available to prenatal genetic counselors. My thesis research focuses on how prenatal and laboratory counselors feel about the possible implementation of prenatal exome sequencing, and what factors influence those opinions. My goal is to assess in what situations they feel prenatal exome sequencing would be appropriate and to see if any discrepancies exist between the prenatal counselors, who are seeing patients in a clinical setting, and laboratory counselors, who are researching variants and writing reports that eventually go back to the clinic.

I developed my thesis project with assistance from my coworkers at the genetic testing laboratory where I worked prior to graduate school and my mentors at the University of Pittsburgh. Through developing my survey, I’ve learned important skills. Reviewing literature has helped to guide the survey creation process, and I’ve learned about specific ways in

which survey questions are coded to help ease the process of statistical analysis, such as creating questions that follow a “Likert scale”, e.g. Please rate how much you agree or disagree with the following (1=strongly disagree,  5=strongly agree).

In addition, my thesis has forced me to think about my own opinions regarding this testing, and to confront these opinions to help structure the questions in the best possible manner. I hope that the results of this survey will help to identify problem areas that should be addressed before prenatal exome sequencing is offered by labs, as well as to show any similarities or differences that develop from working in clinic versus working in the lab in regards to opinions of new testing implementation.

-Tricia Zion, class of 2016