Ophthalmology Optional Rotation

The eye has played a major role in human genomics. Retinoblastoma (RB1) was the first human cancer gene to be cloned, Leber hereditary optic neuropathy was the first mitochondrial disorder defined, and X-linked red-green color blindness was the first X-linked disorder described. 50% of pediatric blindness is due to a genetic etiology, and the eye is second only to the brain as an organ in its frequency of involvement in genetic disorders.


As part of our training in the second year of the genetic counseling program, we are able to select an optional rotation within a clinic of our choice. I elected to complete my rotation in the Division of Pediatric Ophthalmology, Strabismus and Adult Motility at Children’s Hospital of Pittsburgh of UPMC.  I selected this rotation as a way to expand my knowledge of genetic syndromes and to gain insight into the work of a sub-specialized genetic counselor. This clinic sees patients for a variety of indications including nystagmus (involuntary movement of the eyes), congenital corneal opacities, infantile and pediatric glaucoma, congenital and early-onset cataracts, stationary and progressive retinal diseases, neuro-ophthalmologic conditions, and multisystem disorders with ocular conditions.  The clinic also sees a variety of conditions that may or may not have an underlying genetic cause.


During the rotation I became familiar with ocular terminology as well as testing methods often used in the clinic including fundus photography (pictures of the retina), Visual Evoked Potential (VEP), which measures the brain’s response to visual stimuli, Optical Coherence Tomography (OCT), which uses light waves to take a cross section picture of the retina, and electroretinography (ERG), which measures the responses of the retina to light. When a patient has an abnormal finding from one of these tests, then follow up testing and a consultation with a genetic counselor may be warranted.
 

Because many healthcare providers work together on each case, I was also given the opportunity to see a technician perform an initial visual workup on an incoming patient and to observe VEP and ERG testing. As a student I was also shown images from testing that helped to illustrate signs of disease corresponding with particular genetic disorders. Seeing these procedures allows me to describe to patients what they may expect from an ophthalmological workup.


The department also hosts a weekly department meeting as well as a monthly case conference with the counselors and physicians of Medical Genetics, and at both of these meetings I was able to present on a topic of interest or discuss a particular case.
 

A patient may be referred for genetic counseling for a number of findings, but common indications include developmental abnormalities of the anterior segment that result in corneal opacities or glaucoma, bilateral juvenile cataracts, colobomas (incomplete closure of different structures of the eye), aniridia (absence of iris), retinopathies or retinal abnormalities, retinoblastoma, suspected connective tissue disorders, and unexplained vision loss.  When a patient is referred, they are usually seen by a technician who will test their vision as well as by an ophthalmologist to perform a detailed exam of the front and back of the eye. Based on their findings a patient may be referred for specialized testing and then be seen by a genetic counselor to order genetic testing for whatever condition is suspected. The genetic counselor also has the job of educating physicians within the department about genetic disorders as well as coordinating resources, services, and evaluations for patients with low vision. Finally, clinical trials of gene therapies are currently underway for several ophthalmologic genetic conditions, and the genetic counselor plays a role in sharing these opportunities with their patients who have had genetic testing.

I really enjoyed my experience rotating through Ophthalmology, and I would recommend this rotation to any student who is looking to learn about the roles of sub-specialized genetic counselors and the expanding role of genomic medicine in general healthcare.

- Amy Kunz, class of 2016

Summer in Pittsburgh

Summer is a time to get outside, enjoy the sunshine, and find adventure. Luckily for students in the Genetic Counseling Program, here in Pittsburgh, there is no shortage of ways to take advantage of the warmer season. Check out some of our favorite ways to spend the summer. 

1. Trails

For a city, we have found Pittsburgh to have a surprising amount of green space. There a number of parks, many located near campus and in the neighborhoods where students tend to live. There are miles of trails to explore by foot or bike. You could hike most of the day, and you would never know that you are in the city. Plus, there are also off-leash areas in some of the parks so you can take your dogs on adventures with you. 

2. Public Pools

Pittsburgh has a number of public pools located throughout the city, so there should be one that is convenient to you.  Students can purchase a year pass for $35 or pay the $5 daily rate to access them. The pools have lots of green space to lay out towels, read, and dry off. They really are the best way to spend a lazy afternoon -  just don’t forget your sunscreen!

3. Biking

With so much to explore in the city, it seems like you would never get to see it all on foot, but biking opens up a whole new world. The recent addition of bike lanes has made many roads more bike friendly for both everyday commuting and exploring, and we have taken advantage of it. One of our favorite things to do is bike along the river. While there, it always an adventure to explore downtown: seeing all the murals, finding art installations, and soaking in the vast variety of architecture.  Don’t have your own bike? Don’t worry! Healthy Ride PGH has bike share stations set up in convenient locations, allowing you to rent a bike when you need one and then drop it off when you’re done. 

4. Kayaking

As a city full of bridges it is impossible to forget the rivers! In Pittsburgh, the Allegheny, Monongahela, and Ohio Rivers converge, so there is a lot of water running through the city. There is nothing better than looking at the skyline from the water, complete with Heinz Field and PNC Park. Better yet, there are always student discounts on kayak rentals throughout the summer. 

5. Ohiopyle State Park 

Sometime adventure takes you outside of the city. If that is the case, Ohiopyle should be your destination. Why?  A natural water slide created by the river cutting through 300-million-year old sandstone. If that isn’t enough, the park also boasts white water rafting, camping, horseback riding, hiking, and biking trails. 

6. Summer Events

Throughout the summer there are events hosted in different neighborhoods.  Here are a few to look out for:

• Jam on Walnut: This 3-night event benefits the Cystic Fibrosis Foundation. For one night each month of the summer, Walnut Street is closed and celebrations begin with live music from local bands, food trucks, and vendors added to the great shops that are permanent features.  Who can say no to fun summer nights for a cause? 

• Squirrel Hill Night Market: Murray Avenue is closed down in the evening for a pop up market featuring local artists, craftsmen, and vendors along with live music and food trucks. 

• Open Streets PGH: This community building and fitness event was started by Bike PGH. The idea is to get everyone out and moving by closing the streets to traffic and opening them up for people to walk, run, bike, rollerblade, or skateboard through a 3-mile stretch of the city. There are also salsa lessons, yoga, and group fitness classes, free of charge. 

• Cinema in the Park: Throughout the summer, Schenley Park hosts outdoor movies on Wednesday nights. Other parks throughout Pittsburgh do the same.  Just bring a blanket or a lawn chair to sit back, relax, and enjoy the show. 

- Emily Griffenkranz, Class of 2017

Washington State Department of Health - Optional Rotation

Photo by: Bala Sivakumar

I spent my optional rotation block in a non-clinical genetic counseling role with the State Genetics Coordinator Deb Lochner Doyle MS, LCGC at the Washington State Department of Health (DOH), Screening and Genetics Unit. This unique opportunity just outside of Seattle was ideal for me because it allowed me to utilize both my Genetic Counseling and Public Health backgrounds together. In Washington, the Screening and Genetics Unit is where genetic public health interventions are developed and implemented. This is an exemplary environment for a genetic counselor with a public health background to use the special training that we have to communicate data and risks effectively to a wide audience, a skill that I fully utilized to succeed in my rotation.


For the main portion of my rotation, I was tasked with a specific project at the DOH; I created a Lynch syndrome toolkit to distribute to gastroenterologists in Washington and Oregon. This toolkit, which was named the Lynch Syndrome Patient and Provider Resource Guide, contains items that can be utilized by both providers and their patients. For providers, I developed resources such as a Lynch syndrome fact sheet, cascade screening information, and local genetic clinics contact information. For patients, the resource guide contains informational brochures about Lynch syndrome, a letter template for patients to write to their at-risk family members, and tools for family history information collection. Using these components together as a public health intervention, the Washington DOH is hoping to see an increase in Lynch syndrome diagnoses, by way of diagnosing asymptomatic relatives, in both Washington and Oregon.

One of the most important lessons I learned at the DOH was the value of collaboration. For the resource guide project, the Washington DOH collaborated with the Oregon state health department in order to generate a larger impact by reaching out to more gastroenterologists and a larger patient population. Additionally, the overall cost of the project was significantly reduced as a direct result of the collaboration, which was a key priority. Furthermore, during the production process of the resource guide I found that speaking to other members of the DOH in various offices directed the guide’s focus. Though collaboration, I gained tips and insights to help me design the intervention in the most effective way possible.

Besides developing the resource guide, I was able to participate in several other activities at the DOH. I attended meetings with stakeholders and members from other departments. In Washington, the Screening and Genetics Unit works closely with the Early Hearing-loss Detection Diagnosis and Intervention (EHDDI) program. In fact, the two sections recently developed a patient guide together to assist families when their child is diagnosed with any degree of hearing loss. I was also given the exciting opportunity to tour the Washington state newborn screening laboratory to see how newborn bloodspots were analyzed for early detection of genetic conditions.

My optional rotation in Washington State was rich with opportunities to explore how I could blend my MS in Genetic counseling and MPH in Public Health Genetics together. I strongly feel that when I graduate I will be able to grow my career in a unique direction that will always be intellectually stimulating and fulfilling whether I am seeing patients in the clinic or serving a larger population in a genetic counseling public health role.

- Bryony Lynch, Class of 2017

International Rotation: Canada

For my optional rotation block I had the wonderful opportunity to head home to Canada. My goal for this rotation was to learn more about the genetic testing environment within a socialized healthcare system. I completed my rotation at the Credit Valley Hospital in Mississauga, Ontario. This clinic serves a large and diverse population within the ever growing Toronto metropolis. The clinic staffs 8 genetic counselors and 3 geneticists who work in all areas of genetics.

During my four week rotation at Credit Valley Hospital in Canada, I observed many differences. Some of these differences were from clinic to clinic, others province to province, and many country to country. One of the most notable differences between Canada and the USA is testing approval. In Canada, there are no insurance companies that counselors must interact with to determine coverage of genetic testing for their patients. Instead, genetic testing that is not performed within the province requires approval from the ministry of health. This approval process requires a simple application and justification letter. If testing is sent for something common, and sent to a well-known lab in Europe or the USA, then approval will usually take a few weeks. 

Photo by: Paul Gierszewski

Currently, many common genetic tests are being performed within the province of Ontario. The government funds and pays labs within hospitals and universities to perform one or more specialized tests for the entire province, or a specific region depending on the test type. The hospital where I completed my rotation housed a lab that was responsible for prenatal tests in their local area. During my rotation I had the opportunity to attend a meeting with a commercial diagnostics company coming in to promote advanced first trimester screening. The meeting included lab staff, geneticists, and genetic counselors. It was interesting to see the counselors playing such an important role in this decision making process. How counseling plays out in the clinic, based on provincial guidelines, has the potential to result in lab cost savings. This experience made me realize how important it is to have genetic counselors sitting at the table and contributing to decisions being made regarding genetic testing. 

I also observed differences in testing guidelines between the USA and Canada. For example, the National Comprehensive Cancer Network guidelines are used as a reference, but the province has its own testing guidelines for breast cancers, lynch syndrome, and other conditions. Some of these guidelines were less conservative and geared toward a socialized health care system. For example, breast cancer panel testing was reserved for patients with very significant family histories compared to what I have observed in Pittsburgh so far. Observing these differences I noted the balance between what was best for the patient, what was medically necessary, and what was the best use of sometimes limited resources. The province of Ontario has a strict budget specifically set aside for genetic testing and so the balance between patient care and resources is a real one. 

Overall, this was an exciting and unique opportunity for an optional rotation that provided exposure to a healthcare system very different from that in the USA.
- Christine Munro, Class of 2017

Palliative Care Optional Rotation

During my time as a Pitt genetic counseling graduate student, I have had the unique opportunity to pursue interests in ethics, decision making, and palliative care in a variety of different ways. My part-time research job is in the University of Pittsburgh Critical Care Medicine Department, and I was privileged to be a part of the Jewish Healthcare Foundation Fellowship on Death and Dying. As I participated in more of my genetic counseling rotations, it was only fitting that I would pursue palliative care in the clinical setting for my optional rotation.

The pediatric palliative care team (often referred to as the supportive care team) at Children’s Hospital of Pittsburgh was gracious enough to allow me to join them during February and March. I could not have had a more stimulating and meaningful experience observing the team and applying my knowledge of genetics and counseling to many of their patients.

During initial visits with families, palliative care is described as a service for children with life-limiting or life-threatening conditions with four main purposes: decision-making support, pain management, hospice and end-of-life care management, and connecting all services and specialties together to increase communication within the interdisciplinary team. Palliative care is not just about death and dying, but about helping children and families deal with difficult decisions and improve quality of life.

During my optional rotation, I had the opportunity to see patients with genetic conditions such as Duchenne Muscular Dystrophy, long QT syndrome, Amish Infantile Epilepsy Syndrome, and multiple congenital anomalies. I was even able to work with genetic counselors to counsel a family with a child who was diagnosed with a rare genetic condition. The parents were struggling with deciding if a tracheostomy and ventilator would provide enough quality of life for the child, and one of my counseling goals was to help them understand his possible prognosis based on other children with this same condition. As I worked with this family, I observed a care conference in which we discussed the psychosocial, medical, and legal ramifications of the parents’ decision-making.

The care and time spent with every patient and family was beyond inspiring. It is not surprising that I learned many lessons about my counseling and psychosocial skills by watching the team help families navigate their children’s illnesses. Although some might find this work too difficult or emotional, the families appeared to appreciate this service and it was so rewarding to be a part of it. My experience was invaluable, and I hope that the connections I made will allow future genetic counseling students to learn from the pediatric palliative care team.

- Becca Vanderwall, Class of 2016

Sickle Cell Advocacy Day

As part of my graduate student hourly work position with the Children’s Sickle Cell Foundation, I recently had the opportunity to go to Harrisburg for Pennsylvania Sickle Cell Advocacy Day. Advocacy Day is a day that is designated for advocates, healthcare professionals, and those living with sickle cell disease to come together at the Capitol Building to help educate policy makers on why funding for sickle cell disease is so important. As part of House Resolution 888, the designated day this year was May 17, 2016 as proposed by Representative Wheatley of District 19. It was a wonderful opportunity to get a better understanding of health policy, and the difference that advocating can make not only on the policy makers, but also on individuals who are affected by sickle cell disease. Advocacy Day allowed those Living Well with Sickle Cell® to share their stories with others who are living with sickle cell disease, those who support individuals living with this disease, and the policy makers who influence the funding for research of this disease. The funding for sickle cell disease has recently been cut from $2.6 million to $1.2 million as part of the $32 billion Pennsylvania state budget. The money provided from the budget goes to research, educating doctors and patients about the best and most effective treatment options, and other organizations working to help individuals living with sickle cell disease.

The Children’s Sickle Cell Foundation came together to advocate for sickle cell disease with other organizations across the state including the Sickle Cell Disease Association of America, Philadelphia Chapter and the South Central PA Sickle Cell Council, and people who are participants in these programs and currently Living Well With Sickle Cell® as well as their family members. The Advocacy Day began with a press conference where directors from the different programs, local representatives from Pittsburgh and Philadelphia, health care professionals and a few individuals living with sickle cell disease spoke about personal experiences with this disease and how to best advocate to secure the proper funding and support. The local representatives who spoke on behalf of Allegheny County were Rep. Jake Wheatley and Rep. Ed Gainey along with the Executive Director of the Children’s Sickle Cell Foundation, Michael Matthews, as well as Dr. Laura DeCastro, one of the hematologists who provides medical care for individuals with sickle cell disease in Pittsburgh. Afterwards, both of the Representatives gave us a tour of the Capitol Building. While there, we had the pleasure of meeting with the Pennsylvania Legislative Black Caucus to address the issue of the funding for sickle cell disease from the State as part of the budget. In this meeting, some of those who are Living Well with Sickle Cell® were able to share their stories. One incredible young man who is only 17 years old presented a documentary that he created about sickle cell disease and the challenges faced each day by those living with the disease. Overall, participating in Advocacy Day in Harrisburg seemed to be a positive experience for all those who were involved, and I found it especially inspirational to see everyone supporting one another in their individual struggles with sickle cell disease.

- Brooke Hornak, Class of 2017