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, September 15, 2017

Class of 2019: Looking Ahead

With a new semester off to a solid start, the class of 2019 has a lot to look forward to during their time in Pittsburgh.

Hail to Pitt! Many students are excited to start
their genetic counseling careers at Pitt.
“I am excited to have the opportunity to complete my graduate studies in such a diverse and interesting city like Pittsburgh. I cannot wait to learn more about professional genetic counseling, and to create life-long friendships with our classmates!” - Samantha Afonso

“The most surprising thing about moving to Pittsburgh is that you can park your car facing whichever way you want. I’m really excited to learn about genetic counseling and science! I’m so excited to learn about my classmates and create friendships” -Natasha Robin Berman

“I am looking forward to the many opportunities, in and out of the classroom, that I will have to observe and interact with fellow professionals in the field I am becoming part of. I am excited about rounding out my education with a better understanding of public health. Having never spent much time in Pgh, I’m also excited to explore the city’s vibrant performing arts scene (and food scene!) in my free time.” -Charlotte Skinner

“I am most excited to take classes that are tailored specifically to genetic counseling students, which will equip me with a foundation of knowledge directly applicable to my future career. I also look forward to observations and clinical rotations throughout the city in Pittsburgh’s established, reputable hospitals!” -Rebecca Clark

Students are excited to get back into the classroom to add
skills to their GC toolbox.

“I am excited to be a part of a program with a wealth of knowledge and opportunities and to be in classes directly applicable to the career I am passionate about. I look forward to adventuring Pittsburgh and experiencing all the seasons (the Texan in me might freeze this winter, though).” - Megan Hoenig

“I can’t wait to join such an enthusiastic group of classmates and future colleagues. I’m excited to learn from the unique experiences that brought all us to this common path and to support each other as we go along it. As a California native, I’m also hoping I can learn a few techniques from some of them for surviving the winter.” - Caitlin Russell

“I’m looking forward to experiencing all that Pittsburgh has to offer over the next two years! There are so many museums, restaurants, galleries, hiking trails, and other exciting things to do in the city. Moving to Pittsburgh, I was surprised by how friendly everyone is here; it’s not uncommon to find yourself learning the life story of the person sitting next to you on the bus! I’m also excited to be able to expand my knowledge of Public Health Genetics during my time here at Pitt and hope to use that knowledge in the future to help improve a community.” -Meghan Cunningham

Some of our students will have to learn how to bundle up in
colder temperatures in order to survive Pittsburgh winters!
“I’m looking forward to learning as much as I can about genetics and genetic diseases so that I can help patients in my rotations, and later, in my career. I’m also excited to get to know my classmates as we share the next 2 years together!” - Maggie Hufton

“I am excited to continue my education at my favorite school (Hail to Pitt!) by learning more about genetics than I ever thought possible, and to continue exploring all that Pittsburgh has to offer over the next two years with new friends and colleagues.” - Rachel Sutton

“The most surprising thing about moving to Pittsburgh was finding out that I needed a bigger umbrella and rainboots! I’m excited to be part of a dynamic university as I learn more about genetic counseling, public health, and science. I’m eager to learn and develop skills that will last me a lifetime and maybe a little bit of that Pittsburghese (Hey, yinz).” - Alyssa Azevedo

Friday, September 1, 2017

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
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
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