Showing posts with label Genetics. Show all posts
Showing posts with label Genetics. Show all posts

Friday, September 14, 2018

Advice for Class of 2020 from Class of 2019

We are excited to welcome the class of 2020 to the University of Pittsburgh Genetic Counseling Program!  The second-year students have compiled some tips and a bit of advice to share in hopes of making the next two years go as smoothly as possible.  

Some of the class of 2019 and 2020 at our welcome picnic

You will be provided with a wealth of information over these two years that will ensure you are a competent and thriving genetic counselor. I was amazed at the growth I had, both in the classroom and my few months in the clinic. Learn as much as you can but know that a lot will come over time. I joined this field because I wanted lifelong learning - and that means I will never know everything, and that is okay!

My best advice is to keep things in perspective. You are all going to be incredible genetic counselors, in less than 2 years! The day-to-day can sometimes be difficult, but I have found that gratitude and positivity are two great motivators. Speaking of the day-to-day, I am a big advocate of being organized and staying on top of school work.

Study parties are a great way to stay on top of school work!
Make sure to take time out for yourself and enjoy the little things - whether it’s a walk around the neighborhood, dinner with friends, or calling a loved one back home. 

The University of Pittsburgh is a great place to be!

 I am a huge advocate for staying organized!  Some days you may need to triage between studying, assignments, readings, etc. so knowing what you need to get done and when is a huge help!  Don’t forget that everyone is here to help you become a successful genetic counselor, so don’t be afraid to ask questions or seek help when you need it.  Of course, I’d also recommend taking the time to experience all Pittsburgh has to offer, it’s a great city!

Don’t forget that there is so much more to learn outside of school through clinic and extra-curricular activities - try to get a diverse experience. Your peers are a fantastic resource, not only for academics but also for stress release and comfort. Take your time and enjoy these two years- they’ll go faster than you think. You’ll do amazing, and I hope you all enjoy it!



Be ready to accept and ask for help. This is all new and exciting material and it’s important to take care of yourself, and one of the ways to do that is by getting help when you need it! Take some time for yourself on a regular basis to practice some self-care. And remember you’ll have learned more by the end of each day than what you knew before and that is a magical thing! 

This bit of advice has become important for me to remind myself of lately, in moments when it seems like I am just trying to power my way through and get finished with the program: being in school doesn’t mean you are hitting pause, waiting to start your “real life”, or taking a professional detour. Especially because I came back to get my master’s degree after several years working, it can sometimes feel like people view a return to school as one of the above. I also remember feeling similarly when I started my undergraduate degree- like I couldn’t wait to speed through and get to my “real life” or start “adulting”. The truth is, this is life, and it is one of the times it will be the fullest (a blessing and a curse at times haha)! Try to be present- soak up the contact you will have with incredible people from the field, being at the center of it all, hearing the newest news, and watching yourself grow exponentially in your personal and professional skills.

Some of the class of 2019



Friday, August 31, 2018

My Experience Working with Sickle Cell


One of my favorite aspects of Pitt’s program is that it encourages us to hold a relevant work position throughout our two years here. Having spent some time “in the real world” before making the plunge back into school, I came to appreciate that there are skills and lessons best learned outside of the classroom. Ultimately, Pitt is training us to excel as genetic counselors. Our work positions provide an additional avenue to build vital professional skills.

Children's Hospital of Pittsburgh 
As a dual degree (MS/MPH) student, I am fortunate to have found a work position with a similar dual nature. Each week, I split my time between the Pediatric Sickle Cell Department at Children’s Hospital of Pittsburgh (CHP) and the Children’s Sickle Cell Foundation (CSCF). These two groups work collaboratively to provide comprehensive care to children with sickle cell disease and to their families. It is a true model of public health, addressing the physical, emotional, and social well-being of this community. Through working with both teams, I have learned ways to address common issues such as transportation to appointments and communication with schools about missed days due to illness. These are things that may get overlooked by health care providers but are real impediments to an individual’s management of their health.



In my student worker position at CHP, I am able to shadow appointments during clinic days. This augments the already robust clinical experience that Pitt provides. Through shadowing the Sickle Cell team, I get to learn about clinical management and genetic counseling for hemoglobinopathies (genetic disorders that are caused by variant forms of hemoglobin, the protein that carries oxygen around in our blood). My supervisor at the clinic, Dr. Hillery, encourages me to take advantage of all educational opportunities. In the spring, this included a talk on sickle cell pain by a visiting clinician, followed by a more intimate Q&A session. I also get to develop patient educational tools, specifically fact sheets about various hemoglobinopathies. Additionally, through my help with managing the Sickle Cell database, I have learned how to navigate the infamous Electronic Medical Record system. This was one less thing to learn when rotations started! Finally, you cannot be in Pitt’s Graduate School of Public Health without learning about Newborn Screening. My position provides me first-hand experience with this public health program through sending biweekly letters to parents whose babies have screened positive for sickle cell trait. We are currently evaluating the letter that western Pennsylvania sends out for this purpose, and my feedback has contributed to the revision process. I have been able to incorporate this into my thesis research, which will examine the impact of the notification letter on families’ understanding of sickle cell trait.  As you may be able to tell, there is no shortage of opportunities for learning at the clinic alone!
Newborn Screening

My second role is as a program assistant with CSCF. Here, I work with a team of Community Health Workers to coordinate activities and services for those within the sickle cell community. We offer programs such as swim lessons and math tutoring on the weekends, trips to plays, museums, and amusement parks throughout the year, and special holiday events. One of the highlights of my year has been our Season2Give event where the children were able to pick out gifts for their siblings, which we as “Santa’s Elves” wrapped. All these events provide a wonderful opportunity to get to know families in a context beyond the clinic. CSCF additionally performs a patient advocacy role, which includes assisting with the development of Individualized Educational Programs and providing assistance with meals and transportation to families when needed. As a future genetic counselor, I am so appreciative to be learning how to navigate the logistics of these crucial support services.


Time is one of your most precious resources in graduate school. While work can sometimes seem like one more thing to try to cram into an already packed schedule, my work position has provided me with some of the most valuable (and fun!) experiences of graduate school. As I continue working towards my career as a genetic counselor, I am excited to see how many other ways my work with this wonderful team can help me build my professional toolkit.
Caitlin Russell 

Friday, November 10, 2017

Expanding Public Health Genetics

NYMAC's logo.
Last month, we had the opportunity to attend the NYMAC (New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services) steering committee meeting in Washington D.C.
NYMAC is one of seven regional genetics networks in the nation and encompasses seven states: Virginia, West Virginia, Maryland, Delaware, Pennsylvania, New Jersey, and New York, as well as the District of Columbia. These regional genetic networks were established to increase awareness, knowledge, and access of genetic services. Historically, NYMAC has focused on assessing and improving newborn screening in the region’s states as well as other genetic initiatives.

The steering committee meeting focused on NYMAC’s projects for the new grant cycle, which started May of this year. The five main goals of this grant cycle include education, access, telegenetics, quality improvement, and newborn screening. Being new to the organization, it was a great opportunity to see first hand how an organization designs and implements projects.

We covered decision-making plans for metrics and deliverables, discussed how best to implement new technologies, and brainstormed educational priorities for health care providers and patients. There was no better way to get informed, get involved, and get to know our collaborators than to be at the steering committee meeting. Other attendees included a newborn screening nurse, two representatives of different parent-to-parent organizations, medical geneticists, several telehealth consultants, members from the Health Resources and Services Administration (HRSA) and the National Coordinating Center (NCC) for the Regional Genetics Networks, project managers and proposal coordinators, as well as several other professionals. We had the opportunity to speak with leaders in the field, to learn information we didn’t know we didn’t know (such as how to address state licensure issues in telecounseling), and also to contribute our unique perspective to the dialogue around us.

Some of our Pitt Graduate Student workers are helping
NYMAC establish a public health genetics hotline.
As student workers for NYMAC, our primary project is to establish a toll-free phone line that will serve to assist medically under served populations in finding genetic services. We will provide them with a list of clinics in their area and the average wait time for an appointment at these clinics. We will also make appropriate referrals to other outreach organizations if callers have specific questions about a genetic syndrome or if they want to be connected to other families for support. To prepare, we will be updating information on available genetics clinics and outreach sites. We will also be developing lists of “genetic red flags,” or symptoms that should elicit medical attention, organized by age to be used as a reference for both health professionals and patients.

Attending the NYMAC steering committee meeting was a great professional experience for us as current students in the dual degree program (MS in Genetic Counseling and MPH in Public Health Genetics). We are both enthusiastic to help establish the phone line, work with this team of leaders, and to improve the access of genetic services to under served populations in our region.
-- Sarah Brunker, Class of 2019
-- Claire Leifeste, Class of 2018

Friday, October 13, 2017

Leadership Seminar: Laura Hercher Edition

The University of Pittsburgh Genetic Counseling Program annual Leadership Seminar invites a leader in the genetic counseling field to come speak to current students and local counselors each year. The speaker is chosen by the students, and the class of 2018 invited Laura Hercher - writer, ethicist, Tweeter - as the third speaker in the series. It was quite a memorable experience. See what current students had to say about the experience. If you are interested in viewing any of the talks from the seminar series, you can find them on the program’s homepage.

This year's speaker was Laura Hercher.
I was both very excited to listen to Laura speak and to have the opportunity to introduce her before the lecture began. She is not only entertaining, but very insightful. I think her underlying message of conscientious action within the ever-growing field of genetics and genomics speaks volumes to me and pushes me to become a professional that advocates for their clients and keeps public health in mind. She also inspired me to find more of my own voice when it relates to genetics issues. - Meg Hager

Visiting with Laura at breakfast before her talk was inspiring.  I found her perspective on genetics, and on life in general, refreshing.  She spoke openly about her opinions on controversial subjects like gene editing and DTC testing.  Her honesty was matched only by her wit, and somehow she managed to be entertaining at the same time.  It was a great experience, and I hope to have more interactions with her in the future, and use her inspiration to help me find my own path. - Seth Lascurain

As a genetic counseling student, I found the depth and expanse of her knowledge on emerging technology and innovations in genetics awe-inspiring. She truly is a lifelong learner! It was inspiring and reassuring to hear such an established genetic counselor explain that in spite of her years of counseling and research experience there is still so much for her to learn especially as new technologies emerge. Our education as genetic counselors does not stop at graduation. - Joya Petersen

It was such a privilege to meet with Laura before her talk and hear her thoughts on the role genetic counselors can play in shaping public policy. As a first year student just starting to find my professional voice, I was inspired by her ability to balance compassion with conviction when weighing in on such charged topics as gene editing. I especially enjoyed the talk she later gave on “Hot Topics” in genetics: I can’t wait for it to spark meaty discussions with my friends and family, who will definitely be getting the link to watch! - Caitlin Russell

This year’s leadership seminar was an outstanding event.  Speaking with Laura during the breakfast session allowed her to provide us with great insight into the issues that are important to us.  Then in the afternoon, her seminar presentation showed us which issues she felt were most important.  Personally, the seminar made me aware of issues I had not been aware of before.  Her engaging personality created a comfortable environment where discussion and questions were not only welcomed, but encouraged.  Laura is truly a leader in the field who plays many roles; writer, podcaster, ethicist, student research coordinator, and author.  Her passion and dedication to the field is inspiring. – Meghan Cunningham
Direct-to-consumer testing was one of the topics Laura covered
during her talk. [DepositPhotos/ Julia_Tim]

Laura was a striking presence. She gave me the impression that she is not afraid to take a stance; listening to her talk about some of the important controversies genetic counselors have had a hand in settling during her career, made me think about what my career as a genetic counselor may entail. I felt inspired to imagine how I could embody roles outside of strictly patient care, as a patient advocate, concerned public health professional, and even legislative advisor, in the future of this rapidly-expanding field. – Charlotte Skinner

As a first-year genetic counseling student, having the opportunity to meet with Laura and hear her speak was an invaluable experience. At breakfast, she was open and passionate about ethical issues and challenges she sees for genetic counselors. As she spoke, it became apparent to me how important it is to find your own voice and to not be afraid to use it. Laura had great advice about the different avenues she has utilized to share hers and how to get involved in these crucial conversations ourselves. I know the inspiration Laura left me with will follow me well into the future. - Alyssa Azevedo

Laura was incredibly generous with the stories and wisdom that she shared with students at her breakfast visit, and she provided us with valuable information on how the field is growing and evolving during her seminar. After she discussed eye-opening advancements in genetic technologies and genomic medicine, I realized that the sky's the limit for the genetic counseling field. In addition to her passion and enthusiasm, I will also take away all the resources she provided during her time with us, from websites to blogs to podcasts for genetic counselors. Laura inspired me to forge my own path as a genetic counselor, and I look forward to being a lifelong learner and leader just like her. - Rebecca Clark

Laura Hercher speaking at the seminar series.
Having the opportunity to meet with Laura before the lecture and listen to her talk about her experiences and achievements was such a great experience. She answered controversial questions with ease and was personable in telling us stories based on some of her experiences. Laura is a captivating public speaker, and it was so interesting to hear about her thoughts on headline genetic stories from this year, and the impact those stories will have on genetic counseling in the future. It was such a great experience and her passion for the field of genetics and genetic counseling was contagious. - Rachel Sutton

Laura is a forward thinker of the genetic counseling field, and being able to speak with her and hear her perspective was absolutely fantastic. Being a first year student, her insight will shape the way I think going forward in the field. She inspired everyone to think critically, to be a lifelong learner, to utilize nontraditional avenues, and to address challenges head on. – Megan Hoenig

It’s always inspiring to hear from leaders in our field, especially one as passionate and articulate as Laura Hercher. She is a fascinating speaker who commands attention with her strong stances on important issues. The opportunities to meet more informally as well as witness her lecture were extremely motivating experiences that will continue to influence me as I move forward in my training as a genetic counselor. - Emily Spoth

I really enjoyed learning about the variety of things that one can do with their genetic counseling degree, and how we can utilize different avenues to advocate for our patients.  I was, personally, really excited to see Laura speak as I've been an avid follower of the DNA exchange and listener of Mendel's pod.  For students who are coming back to school to pursue genetic counseling, especially those of us who didn't start off in the sciences, seeing how much Laura has been able to take from her previous work and make it applicable to genetic counseling was really great. - Natasha Robin Berman

I am thrilled and incredibly grateful that Laura Hercher accepted our invitation to speak to our program. Our discussion over breakfast was quite stimulating, and her presentation on the top 5 genetics stories of 2017 (so far) was both entertaining and thought-provoking. I am personally interested in the ethical issues surrounding prenatal and preconception genetic counseling, so I found her opinions and perspective surrounding ethics, access, and possibilities of prenatal genetic testing particularly intriguing. - Julia Stone 

Friday, September 29, 2017

NSGC Impressions

The start of NSGC.
Our second years were able to attend the NSGC conference in Columbus, Ohio this year. Each one of them has a unique perspective on the event and what it meant to them.

My first NSGC conference was amazing! I had a blast spending time with my classmates, listening to lots of interesting talks and poster presentations, and catching up with my friends and colleagues from other programs, many of whom I hadn’t seen since interview season 2016. It was inspiring and humbling to be sharing the space (and the week!) with so many amazing genetic counselors in the field who I look up to (and hope to become one day), and a much needed reminder of what I am working towards. - Julia Stone

It was wonderful to be surrounded by other people with similar interests and experiences, but very

different perspectives and approaches. I was reminded again why I am so excited about genetic counseling, and my stress about finding a job was replaced with enthusiasm! Of course, bonding and spending time with my classmates, supervisors, and program directors was one of the best parts. I’m looking forward to joining Special Interest Groups and giving back to the GC community! - Kaitlin Sullivan

The NSGC conference was amazing! Sitting in the huge lecture hall amongst hundreds of genetic
No NSGC is complete without a water bottle.
counselors, I felt awestruck and proud to finally be a part of NSGC. The workshops and panels helped me to learn about a variety of pertinent topics in genetics and gain a better understanding of NSGC’s goals and current agenda. - Joya Petersen

I enjoyed my first NSGC conference. It’s easy to get tunnel-vision while in the GC/MPH program, but this conference reminded me about what all of us (students) are working towards, the community we’re now a part of, and the families and individuals we’re doing this for. - Emily Mazzei

I remember thinking halfway through the NSGC conference, “I’ve found my tribe.” It’s incredible to be surrounded by so many people passionate about the field of genetic counseling and to see everyone come together to work on professional development at NSGC. That being said, the NSGC conference was one of the most exhausting experiences I’ve ever had. There was so much information to take in and so many things to do in Columbus. There was never a dull moment! I’m looking forward to my next NSGC conference. - Meg Hager

My first NSGC conference experience won’t be my last.  I had an opportunity to meet other genetic counselors with interests similar to mine, and the experience was amazing.  For me, this conference was all about taking in the experience.  I went to some seminars and heard about really interesting topics related to genetic counseling, but I spent most of my time talking with others at the conference.  I talked with people who shared my interest in issues like Direct to Consumer (DTC) testing, VUS reclassifications, insurance fraud, new testing options, and so many more topics.  I made contacts that will help me find a job when I graduate and help me complete my thesis project so I can graduate.  I found myself utterly exhausted at the end of each day, but eager to do it again in the morning.  - Seth Lascurain
An interactive art piece at the Greater Columbus
Convention Center featuring one of our second-
year students.

The NSGC conference was a fantastic opportunity to connect with other genetic counselors from all over the country. It was exciting to be surrounded by so many other people who share passions and experiences, especially being on the threshold of the profession. I was thankful for the chance to learn so many new and exciting things from the leaders in our field. - Emily Spoth

I loved learning about all of the current advancements as well as participating in discussions regarding professional issues in our field. I now have a better understanding of ways to get involved in our national society. The conference was also a great opportunity for networking! - Claire Leifeste

The NSGC conference was a good opportunity to look towards the future, and speak with potential employers in a casual, uncontrived environment. - Jenni Peck

I really enjoyed my experience at the NSGC conference! There was so much information, and on so many different subjects, that we were all able to really tailor our time there to our own interests. It was also a great opportunity to learn about different things you can be as a genetic counselor, and make connections for going into the field in whatever capacity you choose. - Julia Verbiar


I loved being able to attend the various talks and meetings that happened during the conference. Hearing discussions between counselors with a variety of different professional experiences made me even more excited to become a part of such a dynamic field. Visiting the booths in the exhibit hall also reinforced the wide variety of different career opportunities and resources currently available to genetic counselors. The Pitt alumni dinner was also one of the highlights. Seeing how successful Pitt graduates have been helped to remind me how grateful I am to be receiving such a strong educational foundation. - Jaclyn Amurgis

-- The Class of 2018


Friday, July 7, 2017

Biting into Research: Research Experience with Craniofacial and Dental Genetics

Like some of the genetic counseling students from years past, I am a graduate student worker at the Center for Craniofacial and DentalGenetics (CCDG), part of the School of Dental Medicine here at Pitt. My first experience with the CCDG was through the Summer Institute for Training in Biostatistics, when I was able to work with data from the first cohort study of the Center for Oral Health Research in Appalachia (COHRA1). Currently, I am a research assistant for the second cohort of the study, Factors Contributing to Oral Health Disparities in Appalachia(COHRA2). The goal of these studies is to examine the genetic, environmental, behavioral, and microbial components of the disproportionately increasing rate of dental caries, or cavities, in children in Appalachia, a region in the eastern United States spanning from western New York to northern Alabama, Mississippi, and Georgia. We are looking specifically at children in Northern Appalachia, from western Pennsylvania and West Virginia, as they demonstrate a high level of poor oral health with elevated rates of caries early in life.
A map depicting the Appalachian region of the United States.

My job involves working with a team of other research assistants and dental hygienists to perform study visits and maintain contact with the research participants. Collaborators at West Virginia University also carry out these visits, with West Virginia being the only state entirely within the Appalachian region. Female participants were able to enroll when they were in their first or second trimester of pregnancy and we are now following the mother and baby pairs up to the baby’s 6th birthday, with visits at specific times throughout the years.  The visits involve collecting saliva and other oral samples from the mothers and babies enrolled in the study for DNA and microbial environment analysis. We also document the child’s growth and survey behavioral, environmental, psychosocial, and socioeconomic factors of the mothers, both at the visits and with short and long phone interviews at other times of the year. Other aspects of my position involve helping with general office duties and processing the samples received at both sites for subsequent analysis.

Center for Craniofacial & Dental Genetics logo.
A significant benefit of my position is the wealth and breadth of data available from which I can develop my thesis project, which is allowing me to make it a project I really enjoy. I have a strong interest in cardiovascular health, so I am currently looking into developing a thesis project that examines the possible genetic link between heart disease, hypertension, and periodontitis. Research has shown that there may be a similar underlying inflammation process in these diseases and, through CCDG-lead studies and collaborations throughout the years, there is extensive data I can use to further study this connection.

Although I was not sure how relevant it would be when I began, this position has helped me cultivate my genetic counseling skills. Conducting the study visits has facilitated my comfort with patient interaction and adapting to changing situations, as patients and sessions can be unpredictable, just like the toddlers we see. Through the phone interviews we conduct with the mothers to track the diets and general health of their babies, I have also developed my ability to go through series of seemingly random questions in a targeted manner to stay on topic, like is necessary when collecting personal and family medical histories.

For these reasons, and many more, I have really appreciated the experiences and opportunities I have had while at the CCDG and am excited to continue working here through the rest of my time at Pitt!

-- Julia Verbiar, Class of 2018

Friday, June 23, 2017

Optional Rotation: Cambridge, England

For my optional clinical rotation, I had the unique opportunity to spend four weeks in the United Kingdom.  Since I am dual degree student also pursing an MPH in Public Health Genetics, my main goal for this rotation was to observe the differences between UK and US genetics services.  My rotation took place in Addenbrooke’s Hospital, a teaching hospital that is part of the U.K.’s National Health Service (NHS) and is affiliated with the University of Cambridge.  The clinical genetics department at Addenbrooke’s is made up of 10 genetic counselors and 11 clinical geneticists with varying specialties and professional interests. 

Addenbrooke's Hospital of Cambridge gave one Pitt student
the opportunity for an optional rotation.
During my four-week rotation, I had the opportunity to observe and participate in patient encounters across a number of genetic specialties such as prenatal, pediatrics, and cancer.  For the most part, the genetic counseling sessions are handled in the same manner as they are in the US.  They contract with their patients the same way that we do, provide the same basic genetics information, and offer emotional support to patients and their family members.  The greatest difference, I found, was in the type of genetic tests and screenings that were offered to patients.

In the US, if a patient meets clinical criteria for genetic testing, the type of test offered, the testing laboratory selected, and subsequent health screenings recommended often depends on the patient’s insurance.  In the UK however, the vast majority of patients utilize the NHS, a single-payer system, which somewhat streamlines the genetic testing process.  However, because the NHS provides healthcare to so many people, the challenge of conserving resources is very real.  The clinical criteria for genetic testing and health screenings in the UK are stricter than they are in the US, and there is a more formalized process for getting an appointment with a geneticist or genetic counselor.  After having spent time in two very different healthcare systems, I am now more aware of the variety of medical services in the US and have gained an appreciation for the straightforward nature of the NHS.
An important historical message about the discovery of DNA
from a local pub in Cambridge.

In addition to participating in genetic counseling appointments, I also had the chance to observe a number of other genetics-related services.  I got to spend a day in the von Hippel-Lindau (VHL) clinic, working with patients living with this syndrome and helping to coordinate their other specialist appointments.  I spent another day sitting in with men who had a BRCA2 positive test result who were participating in a prospective prostate cancer research study.  I also had the opportunity to observe mammograms and colonoscopy procedures.  These experiences allowed me to appreciate the downstream impact of genetic services on patients, doctors, and research.

Although my rotation kept me quite busy, I was able to set aside some time on the weekends to explore Cambridge and other parts of the UK.  Much of Watson and Crick’s contributions to the discovery of DNA happened just down the road at the University of Cambridge’s Cavendish Laboratory, and it was exciting to feel a little closer to that important history.


My optional rotation in Cambridge was an amazing way to round out my clinical training.  Not only was I able to utilize the skills that I had honed up until that point, I also got to learn a great deal about the applications of genetics to other areas of medicine and its impact on public health.

-- Leslie Walsh, Class of 2017