Student Research Experience: Inborn Errors of Metabolism

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

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

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

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

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

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

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

-- Jenni Peck, Class of 2018

Deciding on the Dual Degree

While preparing for my genetic counseling graduate work, one of my favorite experiences was working with a local organization, Jewish Young Professionals, to set up a night that focused on genetics. We arranged for a certified genetic counselor to speak with a group of approximately 20 individuals aged 20-40, about a variety of genetic issues that might be important for them to know at different stages of life. Activities like this, while not always an everyday part of a genetic counselor's professional life, are important to providing basic education to the community and can be valuable in increasing awareness of relevant genetic issues. While I love individual interactions, and look forward to clinical genetic counseling, I also feel that it is important to think about the impact of genetics on population health (for example, what population screening measures are appropriate and why). Given this perspective, the addition of the MPH degree in Public Health Genetics just made sense.

        I didn't always know I wanted to be a genetic counselor. I didn't even know what genetic counseling was until a few years ago but experiences like the aforementioned one helped solidify my interest in getting involved in healthcare, specifically genetic counseling. I started the process of applying to genetic counseling training programs and continued to be passionate about people and their health. When I got into the genetic counseling program of my dreams, the option of entering the dual degree program (MS in Genetic Counseling/MPH in Public Health Genetics) seemed intriguing. I started to ask a number of questions: Was it right for me? I already had a different graduate degree, in a field I wasn't in, so what could the addition of an MPH do for me?  

        When considering the dual degree, I knew that I could see the benefit, but was it enough when weighed against the cost and time commitment? To be honest, I spent a good deal of time pondering practical issues.  I thought about what the addition of another degree could provide.  Maybe it could help me when I apply for jobs.  Maybe it would give me a bargaining chip for a slightly better salary.  While this information is important to keep in mind, it missed the larger picture of the relevancy of a dual degree to genetic counseling education and practice.  I had great conversations with the program directors as well as the faculty at the University of Pittsburgh, who helped focus my internal reflections.  I also had an informative discussion with an alumnus who graduated from the dual degree program and an alumnus who did not get the dual degree but who has recently started an educational program in public health.  They both shared with me how their clinical practice has been influenced by their public health education.

University of Pittsburgh Public Health

As a result of all these conversations and considerations, when I thought of my future as a genetic counselor, it became clear that I wanted the education as a public health professional to inform my work as a genetics professional within the larger context of our current healthcare system.
Much of genetic counseling work is intertwined with public health, and at times, it can be hard to separate the two. Some experience in public health is intrinsic to the University of Pittsburgh genetic counseling experience, but it became clear that the addition of the dual degree would help me better understand and reframe some of the debates we are currently having about genetics in a new and helpful way. The increased depth and breadth of experience provided by the MPH would also help me improve my ability to communicate with and care for patients in the clinical setting. For these reasons, I started my first dual degree class this semester.

-Natasha Robin Berman

Class of 2019

Winter Activities in Pittsburgh

Our winter break coincided with a bit of a cold snap, but that can’t stop the fun here in Pittsburgh. It has something for everyone over the winter:

Phipps Conservatory likes to decorated with brightly colored
lights during the winter months.

-        Looking to burn some calories? Hike in Frick Park (sure its cold but that didn’t stop us!).  Frick is the largest of the historic parks and covers 644 acres and provides individuals with the ability to use sustainable recreational trails in the middle of the city of Pittsburgh.  Those interested in birding have been able to identify over 100 different bird species, and those interested in learning about nature can check out the new Environmental Center.

-        Looking for a light display? Phipps Conservatory has a fantastic winter flower and light show from the end of November through the first week of January. The displays include both indoor and outdoor experiences, with a little bit of education for those amateur botanists.

-        Want to plan an indoor group activity? Check out the Arsenal Bowling Alley, which offers old school vibes and lots of fun bowling at a reasonable price. Or, if you’re in a more adventurous mood, you can try axe throwing at LumberJaxes.

A view onto the winter streets of Pitt's campus from inside a
Nationality Room in the Cathedral of Learning.

-        Want to kick back and relax? Take in a movie at Squirrel Hill’s Manor Theatre.  Manor Theatre is one of the oldest theaters in Pittsburgh, this landmark has been entertaining locals for 90 years.

-        Like old churches? St. Anthony’s Chapel is a Catholic church that was established in 1880 by Fr. Suitbert Mollinger. This chapel houses the largest collection of religious relics outside of the Vatican, coming in at a grand total of 5,000 relics!

-        Maybe the many trails of Frick Park have been discovered and you’re looking for a new outdoor adventure?  Try the Schenley Park, which has 456 acres and holds the Phipps Conservatory. It also can accommodate those who have been inspired by the winter games and want to work on their ice skating.

Pitt faculty and students on a Heinz History Museum tour.

-        In the mood to see some cute penguins? The penguins are on parade at the Pittsburgh Zoo throughout the winter months. Visitors can come watch the penguins play in the snow and run around just outside of the PPG aquarium! It will be sure to brighten anyone’s day.

-        Love the outdoors and fireworks?  Every year Pittsburgh celebrates Light Up Night which includes a tree lighting and fireworks.

-        Ready to learn something new or see something incredible? On those frostbite-inducing days, you can still get out of the house and go to one of the many museums located throughout Pittsburgh. Some attractions include the many Carnegie museums, the Heinz History Center, Randyland, and the Andy Warhol Museum. There’s also the Western Pennsylvania Model Railroad Museum, which only opens during the winter season.

-        Haven’t made it to the Cathedral yet? The Cathedral of Learning is dressed up for the holidays, making it the perfect time to go see the Nationality Rooms.  Thirty different classrooms represent different groups that all settled in Allegheny county. Not to mention, you can still get a great view from the top!

Some of the artwork displayed at Randyland.

-        Want the enjoyment of seeing others on the ice? Check out a Pittsburgh Penguins game! Pittsburgh is proud to be home of the 2016 & 2017 Stanley Cup winners!

-        Want an athletic event, not on ice? A Steelers game might be up your alley.

-        Just looking for a place to warm up? There are many tea and coffee houses more than happy to support a student just looking for somewhere to read. Or check out Pittsburgh Glass Center, a teaching and art gallery that has live demonstrations of artists creating amazing glass works. The fires keep you both warm and entertained. They even offer classes from beginner to expert so you can make your own glass creation!

Genetic Counseling Assistant Experience at Children's Hospital of Pittsburgh

A picture of Children's Hospital of Pittsburgh.

I currently work as a Genetic Counselor Assistant (GCA) in the Medical Genetics Department at Children’s Hospital of Pittsburgh of UPMC. I was hired in July, and having the opportunity to work part-time at Children’s while attending Pitt is a dream come true. I have always loved working with children, and directly helping the genetic counselors with their various day-to-day tasks gives me insight into the many roles and responsibilities of pediatric genetic counselors. As a GCA, some responsibilities I have include writing letters of medical necessity, contacting insurance companies regarding genetic testing, filling out test requisitions, and doing some preliminary prep work for patients who will be seen in the next week. Recently, I have started calling new patients to give them about a genetic counseling appointment, to ensure they know what to expect when they arrive at the hospital.

One thing that is exciting to see as both a genetic counseling student and a GCA is the rapid growth in the field. In addition to hiring me as a part-time GCA this summer, Children’s hired two other GCAs with whom I have the privilege of working. Also, four genetic counselors have been hired since I started my position (doubling the number of genetic counselors in the Medical Genetics Department!), and there is still a need for more. As an emerging professional in this field, having the chance to work with genetic counselors with wide ranges of experience, from recent graduates to experienced genetic counselors, has been an incredible learning opportunity.

Working as a GCA allows students to integrate
class and clinical knowledge while getting paid.

Although balancing work and school can sometimes be difficult, most of the time the material I learn in class and my work position go hand-in-hand. I am fortunate to have days where I work in the morning and then attend class in the afternoon, where we discuss symptomology, conditions, or genetic testing that I had just seen in my work setting. Being a GCA in a pediatric setting facilitates this learning process, due to the wide range of disorders and genetic variants that children may have who are referred to Medical Genetics. In a similar fashion, being a GCA also allows me to synthesize material I learn in class and gives me the opportunity to apply it in a clinical setting. I expect that my work position will also ease my transition from graduate student to genetic counselor, since I will have had almost two years of experience doing many of the daily tasks that are expected of genetic counselors. Just after a few months, I have grown comfortable using the electronic medical record systems, working with other medical professionals, and calling patients and families. My experience thus far has begun to equip me with core skills of genetic counselors, including knowledge and interpersonal communication, which will be invaluable to my future career.

While I have learned a great deal about genetic counseling as a GCA, I would have to say a highlight of my job is the entire Medical Genetics Department staff. My supervisor fosters a supportive, open environment, and I feel everyone at the office is a work family. Everyone has a strong work ethic, and the genetic counselors are incredibly kind and generous with their knowledge. Yet, there is still fun on a daily basis, as well as an ample supply of office treats! Recently, the department has begun organizing monthly social events, including escape rooms and haunted houses, to promote staff bonding and friendship outside of the office. The compassion and camaraderie among the counselors, new and experienced, really makes me excited to come to work every day. I am grateful for the professional opportunity to be a GCA at Children’s, and I look forward to learning more and continuing to hone my skills as a graduate student and future genetic counselor.

-- Rebecca Clark, Class of 2019

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

Dealing in the Rare: Cutis Laxa

In genetics, we often say that we deal in rare. This is especially true in my work position in Dr. Zsolt Urban’s laboratory in the Department of Human Genetics. I have the unique opportunity to work alongside Dr. Urban and the other hardworking members of the lab as a clinical study coordinator. The Urban lab studies a rare connective tissue disorder called cutis laxa, a condition characterized by loose, lax skin that can also affect many different body systems. The effects of cutis laxa on the body are widespread because it causes changes in the extracellular matrix, a structural component of the connective tissue. Connective tissue is found throughout the entire body and can be thought of as the glue that holds our bodies together.

 

A representation of the extracellular matrix.

Over time, pathogenic variants in over ten genes have been found to disrupt the extracellular matrix and cause cutis laxa. While changes in these different genes can cause a similar condition, pathogenic variants in the different genes can present with unique clinical features, warranting the delineation of cutis laxa into gene-based subtypes. Our study participants are truly the driving force behind our growing knowledge of the similarities and differences among the different subtypes of cutis laxa . As the study coordinator, contacting our participants, consenting them to our study, and gathering their clinical information is an essential part of my job. This is an important step in establishing a natural history of the different types of cutis laxa. By providing clinical information, participants from all over the world are contributing to our insight on the clinical course of cutis laxa. This information is invaluable to individuals and families faced with a rare disease diagnosis who every day deal with the unknown. This information also helps direct future research and hopefully better diagnostic tools and treatments.

Taking family histories and coordinating sample collection for genetic studies from our participants are other important aspects of my position. While molecular analysis determines the subtype of cutis laxa within an individual or family, when it is combined with detailed family histories, it allows us to determine the inheritance pattern of cutis laxa in families. Autosomal dominant, autosomal recessive, and X-linked forms of inheritance have all been observed in families with cutis laxa. Knowing how cutis laxa is inherited within a specific family allows us to determine at-risk family members for testing as well as recurrence risk for couples.

The Rare Disease Day logo.

This position exemplifies the merits of rare disease research, an area that has fortunately been able to grow rapidly with advances in genetic knowledge and technology, as well as through the support of institutions like the National Organization for Rare Disorders (NORD)* and the National Institute of Health, which has programs like The Genetic and Rare Diseases Information Center (GARD). This position has also allowed me to glimpse into the lives of families facing the challenges of rare disease every day. The opportunity to witness their strength, resilience, hope, and grace has been the greatest privilege of this position. Our study participants have taken on tremendous advocacy roles throughout their lifetimes and are truly inspirational.

-- Emily Spoth, Class of 2018

*NORD was originally formed as a coalition of parents of children with rare conditions and has grown to include over 250 patient organization members. One of these members is Cutis Laxa Internationale, centered around cutis laxa! Every year, NORD sponsors Rare Disease Day. The next Rare Disease Day is February 28, 2018! You can learn more at their website: www.rarediseaseday.org

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

Genetic Testing as Séance

     When most of us think about our health, we think of things like blood pressure which can have serious implications for our own health, but may not mean much to our relatives. Most likely, you haven’t given much thought to your genetics, unless you have a reason to. For most of the medical

There is no crystal ball that can tell clinicians what to do with
genetic test results in the event that their patient passes away
and their family members want information.

community, your genetic information is part of your protected medical information. This means that physicians follow the same rules to protect your genetic information as they do for your other health information. But, there is something different about genetic information. It can have implications for your biological relatives, not just you. Many people will decide to allow relatives to be notified of any genetic conditions they are diagnosed with, and usually this process works well. A problem can occur when genetic testing doesn’t provide an immediate answer, and the patient passes away before it can. When this happens, clinicians are left to grapple with the conflicts between legal authority and clinical relevance. On one side are those with the legal authority to receive this protected medical information about the deceased and on the other side are the biological relatives who that information may have clinical relevance for, but may not have legal authority to receive it. There is no clear guidance on what a clinician is to do with information they gain about a deceased patient’s genetic testing. My study, “Disclosure of Reclassified Variant of Uncertain Significant (VUS) Results to Biological Relatives of Deceased Patients: Current Practices”, has the goal of finding out what clinicians are currently doing with that information. I am asking genetics professionals across the country what they currently do and what they think should be done when a clinician is notified of new information regarding the genetics of a deceased patient. The long-term goal of my study is to contribute to policy development that will guide clinicians through this complex situation. This is a complicated problem though, and the first step is going to be finding out what is happening now, to help us understand where we need to be going in the future. In taking on this project, I have learned a great deal about developing a research project, survey development, collaboration, policy, and genetics.
     Our bodies carry two copies of every gene, we get one from our mother and one from our father. Genetic testing is indicated for individuals and families with conditions known or suspected to have a

DNA helps to make us who we are and is part of our protected
health information.

genetic cause. Conditions for which genetic testing is available exist in many medical fields, including oncology, pediatrics, prenatal care, cardiology, and hematology among others, and can impact patients at any age. Genetic testing can be performed on single genes, multiple genes (gene panels), whole exome (the part of our DNA which is used to make proteins), or whole genome (all our DNA). The type of testing performed depends on the symptoms of the patient, the amount of information desired, and the scope of genetic factors involved for the condition of concern. If a genetic condition is identified, it may modify medical management of the patient such as screening methods and frequency as well as surgical and medication options that may become available. However, not all genetic variants will impact medical care. Variants identified through genetic testing fall into three main categories: pathogenic variants, benign variants, and variants of uncertain significance (VUS). A pathogenic variant is known to be associated with a condition, a benign variant does not impact our health, and a VUS is a genetic change which has unclear implications.
     In 2015, the American College of Medical Genetics put forth guidelines for classifying genetic variants into five different classifications: pathogenic, likely pathogenic, of uncertain significance, likely benign, or benign. These guidelines recommend using published literature, computational predictive programs, family studies, and bioinformatics resources to determine which classification is most appropriate for a specific variant. Information from these sources is combined to assess the variant’s impact on health and determine its classification. If available evidence is insufficient for a variant to be classified as pathogenic, likely pathogenic, benign or likely benign, ACMG recommends classifying the variant as being of uncertain significance until available evidence becomes sufficient to reclassify the variant. Clinicians may use these general guidelines to classify genetic variants, but the details of the process vary. A VUS can be identified in anyone who gets genetic testing. VUS results are not used in medical care, but are recorded by the laboratory that performed the testing until enough information is available to reclassify the variant. However, the reclassification process may take years and some patients will pass away before reclassification of their VUS occurs. When a VUS result is reclassified by a laboratory, many will send out an updated report with relevant information about the variant to the ordering physician. Even after the patient has passed away, the reclassified results may still be of clinical value to surviving biological relatives. Biological relatives of the deceased patient have a certain probability or chance of having the same variant as the patient, depending on how closely they are related. Reclassification of a VUS to a pathogenic variant indicates that biological relatives of the deceased patient may have increased risks to carry the same variant, and associated disease risks. Conversely, a reclassification of a VUS to a benign variant can help eliminate the anxiety associated with an uncertain result.
     There are currently no guidelines in place for when and how clinicians should contact biological relatives of a deceased patient to inform them of a reclassified VUS result. However, this issue will

Determining what to do with genetic test results of someone
that has passed away may have implications for other family
members.

become increasingly important as genetic testing becomes more common and testing volume increases. A change in clinical testing practices, from single gene tests to broader tests that look at multiple genes, will likely increase the frequency of VUS findings as well. In general, increasing the number of genes being tested increases the likelihood of discovering a VUS. Current policies which do address the issue of genetic information disclosure after the death of the patient typically treat genetic information as medical information. In Pennsylvania, this means that only the executor of the estate has legal authority to receive the information once the patient has passed away. Clinicians who receive a VUS reclassification for a deceased patient may struggle with who has legal authority vs. clinical relevance to receive that information. Guidance on this issue is minimal, and clinicians may use a wide variety of methods to identify the most appropriate person to receive the reclassified result. Clinicians may reach out to the last known contacts for the deceased, the spouse of the deceased, the hospital’s medical records department, etc. in order to identify who can receive the reclassified VUS results. Other physicians may not attempt contact at all, since the patient is deceased. Because of the lack of guidance and the growing relevance to clinical genetics, it is becoming increasingly important to establish guidelines which best serve the patients, their families, and the clinicians involved in this process.
     My study will distribute a questionnaire to about eight-thousand genetics professionals across the

While it may be a lot of work, researching these types of
questions go into providing better genetics care for the
population.

US and ask what they have done when they encountered this situation. A reclassified VUS in a deceased patient is not something that occurs every day though, and I will also be asking for opinions on what should be done in these situations. Data will be reported according to demographic information such as years of practice and current role of the responder. I’ll also compare responses and look for factors which may be affecting those responses. Data collected though this survey will be reported in my thesis project and hopefully published as a research article in a peer-reviewed journal to promote work on this issue and raise awareness in the genetics community.
     For me, the process of developing a study from start to finish has been very rewarding. I am fortunate to work with some very experienced mentors who have provided a great deal of insight into the construction, distribution, interpretation, and reporting processes involved in this study. Developing a survey from scratch has been the most interesting component so far. I learned a great deal about the process of developing a survey and the work that goes into it. I have also worked with the Institutional Review Board (IRB) to ensure the privacy and well-being of research participants is protected and coordinated distribution of the survey with national organizations. It is no surprise that I have learned a great deal in this process. I have a long way to go before this project is completed, so I know I will learn a lot more. I have enjoyed working with my mentors and am excited about the skills I am developing. I now look forward to research opportunities after graduation, and hope to continue working on this issue to reach the end goal of policy development.

-- Seth Lascurain, Class of 2018

Reapplication: A Worthy Challenge

     There is a distressing feeling that accompanies finding out you have not been accepted to any genetic counseling programs. For months, you have agonized over every letter of your personal statement, typed and retyped answers to application questions, entered the basic details of your life on form after form, and paid fees in hopes of receiving an interview. This does not even account for the hours of shadowing, volunteering, working, studying, and soul searching that go into preparing for the application process.

Remember, Hercules may have suffered some defeats, but
he still persisted, and so can you!

     Then, as days stretch into weeks after hitting that scary “submit” button, you begin to receive messages from programs either telling you, “thanks, but no thanks,” or, “please, do come join us for an interview.” The interview process itself is its own Herculean labor. At the end of each one your jaw is sore from smiling, your mouth is dry from conversation, and your eyes are heavy from lack of sleep. Sometimes you leave feeling completely satisfied with your performance. Sometimes you nitpick the way you answered that last question when you were starting to feel tired.

     The next part is the long wait for Match Day. Some days you feel confident that you will be telling your family members all about class and clinic in a few short months. Other days you think that the chances of getting in are a million to one. The mind games seem worse when you need to re-explain that when you say you will find out April 25, you mean you will find out April 25, not next week, not tomorrow, not today. And yes, that is plenty of time to find an apartment. You are not the first to do it, nor will you be the last.

     After all of this work, to find out you did not make the cut feels devastating. But is it all for naught?
     The short answer is no. The long answer is a little more involved.

     Reapplying to a program that did not accept you the previous year does not “look bad.” If anything, it shows that you are willing to pause, reflect, and improve upon yourself, all qualities vital to a good genetic counselor. There are many students who do not make it in on the first try. From my experience, the unintentional gap year was a positive one, and getting accepted the second time

The path to success may not always be clear, so sometimes
we must forge our own way.

around made it all the sweeter.

     Before you begin reapplication, set aside time to feel sad. Spending months on a project that does not come to fruition is tough, and it is okay to acknowledge that.

     The next step on your journey is answering this question: Is genetic counseling right for me? Think about what you have learned throughout the application process and whether you can pursue it again. If your answer is yes, reach out to programs for pointers on how to improve your application. The most helpful question I was asked during this time is, “What is your plan for the next year?” Program directors like hearing your ideas because it shows you take initiative and that you care about the profession.

     Then, of course, you need to execute your plan. For everyone, this will look a little different, but here are some general pointers:

1. Learn everything you can about genetic counseling. One way to do this is shadow more. Reading is also very helpful. Some personal favorites are The DNA Exchange and Genome Magazine – both online, both free. NSGC has some great, free webinars too! The Journal of Genetic Counseling and Genetics in Medicine are both great resources that can be accessed through many university libraries. Many states also have genetic counseling associations with annual conferences you can attend, which is definitely something to include on your resume.
2. Update your personal statement to reflect changes you made since the previous cycle. You want to showcase the hard work you have put in for any programs viewing your application again. Make sure those writing your letters of recommendation receive an update on your additional accomplishments as well should some of them be the same people.
3. Practice interview questions. Being able to answer questions about your strengths, weaknesses, times you encountered conflict, etc., should become second nature. Having some stock answers you can build upon will help you with confidence on interview day.
4. Be open to new experiences. While learning a new skill or taking a trip may seem completely unrelated to the application process, everything builds upon who you are as a person. You never know what you may be able to relate back to genetic counseling, and it is more material to work with during interviews.
5. Be confident. Failing to get in once does not mean you are any less capable of becoming a genetic counselor. It simply means that you were not as well prepared as someone else. Remember: you can – and will – take steps to remedy that.

     To be honest, reapplying is hard. It is a sense of déjà vu that you are simultaneously more and less comfortable with. I came to deeply appreciate the reapplication process. Ultimately, it was a time for me to improve upon not just my application, but myself. And ultimately, the experiences I had during my unintentional gap year will make me a more capable genetic counselor. So, I challenge those of you reapplying to rise to the occasion and make this your best year yet. Good luck!

--Meg Hager, Class of 2018

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 6^th 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

Summer Plans for the Class of 2018

This summer, our second-year students are not only working hard in their clinical rotations, but they’re also taking time to experience more of Pittsburgh!

When I’m not working at improving my skills as a Genetic Counselor at my rotations, I plan on enjoying the running trails at Schenley Park, trying some new restaurants, and -above all else- getting some wonderful iced tea from Gryphon’s and Bantha! -Meg Hager

Enjoying some tea while working at Bantha
Tea Bar in Bloomfield.

A few of us have decided to take on the Tough Mudder this fall! This summer I will be training for that. -Seth Lascurain

I have been slowly working my way through a list of bakeries, cafes and restaurants in Pittsburgh that I’d like to try. I’ve also been seeing a lot of movies at Row House Cinema in Lawrenceville, which has a new movie theme each week. -Emily Mazzei

I am taking advantage of every farmers market and food truck event I can get my hands on this summer! Pittsburgh has some sort of fun food event going on every weekend, and I am making an effort to experience as many of them as possible. -Julia Stone

This summer I am going to take advantage of the warm weather and do one of my favorite things: go to a Pirates game and enjoy the view of North Shore! -Joya Petersen

One of my favorite summer activities in Pittsburgh is talking walks around the many beautiful parks and petting all of the cute dogs! I also enjoy biking on the trails that run along the rivers. -Jackie Amurgis

A shot of Pittsburgh from the Three Rivers Heritage Trail on
a cloudy, summer day.

Summer weekends are for camping and hiking! I’m looking forward to continuing exploring the state parks in the area. I got started over Memorial Day weekend with Fernwood State Forest (which is actually in Ohio!) and Raccoon Creek State Forest in PA. -Emily Spoth

In addition to enjoying the change of scenery from classes to clinical rotations, I am going to get back into running outdoors; enjoy some cafes around Pittsburgh that I have yet to try; attend some summer festivals and street fairs; and despite the humidity, still be relieved about the summer temperature differences between my Arizona home and my Pittsburgh home. -Jenni Peck

Along the lines of some of my classmates, this summer, my goals are to improve my cooking skills and my 5k time! I am working on trying out a new recipe every week, using ingredients from the farmers markets around the city, and running at least one race each month, finishing in front of a faster pacer each time. -Julia Verbiar

My summer bucket list includes going to a Pirates game, visiting a lot of parks, and hopefully making it out to Frank Lloyd Wright’s Fallingwater. We are also continuing our second year’s tradition of going to a different happy hour every Thursday after class! -Claire Leifeste

I’m spending as much time as possible finding nice places to read outside, cooking with fresh farmer’s market foods, and checking out fun festivals! My mom, sister, and I went to Mattress Factory art museum, Randyland, and the Cathedral of Learning over Memorial Day, so I’m inspired to do more sight-seeing again. -Kaitlin Sullivan

The Class of 2018