Friday, June 21, 2019

Student Work Position: Genetic Counseling Assistant at UPMC Hereditary GI Tumor Program

One of the things that drew me to Pitt’s Genetic Counseling Program was the fact that there are opportunities for students to have part time jobs.  Additionally, many students do their thesis projects through their work positions.  This attracted me to Pitt’s Genetic Counseling Program because I knew I wanted to continue to work while I got my degree.  The ability to do my thesis through my work position allowed me to start thinking about projects earlier and gave me the connections I needed to set up my project.
For my student work position, I work at UPMC Shadyside in the Hereditary Gastrointestinal (GI) Tumor Program as a genetic counseling assistant.  This group counsels patients who are referred for hereditary GI cancer risk assessment and manages care for individuals who have a hereditary predisposition to GI cancers, including Lynch Syndrome, Familial Adenomatous Polyposis (FAP), Hereditary Diffuse Gastric Cancer (HDGC), Familial Pancreatic Cancer (FPC) and more.  The team consists of a gastroenterologist who specializes in hereditary gastrointestinal predispositions, two genetic counselors, and several research coordinators who enroll and coordinate patient participation in a variety of research studies.
The clinic sees 10 new patients a week, and my job is to prepare for each appointment to assist the genetic counselors.  About a week in advance, I extract relevant information from patient medical records to complete intake forms.  I call patients on the phone to review their personal history and see if any records need to be requested from other institutions before their appointments.  While I have them on the phone, I also draw a pedigree so the counselors have more information about potential differential diagnoses before the session.  After the appointment, I make the pedigrees in progeny, a secure pedigree database, so a clean copy can be uploaded to the electronic medical record system.  Because of my past experiences as a research coordinator, I also occasionally consent patients to research studies and carry out study procedures. 

Working as a GCA has been such a rewarding experience for me.  During the first year of the program when I was focusing on classes, being able to speak with patients and learn more about cancer genetics (which I have always been interested in) was perfect for me.  In the particularly stressful academic weeks, it reminded me why I became interested in genetic counseling in the first place.  In addition, I was able to have months of practice preparing for cases before entering my clinical rotations, which allowed me to be more confident heading into my first rotation. 
I truly enjoy the time I am able to spend in the office.  It has allowed me to take a step back from the hectic class schedule while still being able to learn about topics relevant to my future career.  I have made connections with people in the field who have become my mentors.  My job allows me to continue to learn more about something I am passionate about, and I am very grateful for the experience.  Now that clinical rotations have begun, this work position will be perhaps the only constant in my life as I change rotation sites regularly.  I am excited to continue working and growing in the UPMC Hereditary GI Tumor Program for the next year.
Christine Drogan, class of 2020

Friday, June 7, 2019

Research Experience at the Center for Craniofacial and Dental Genetics

Like other Pitt Public Health students and genetic counseling students before me, I have had the pleasure of working at the Center for Craniofacial and Dental Genetics (CCDG) throughout my graduate career.  The CCDG is part of Pitt’s School of Dental Medicine and has several research initiatives investigating topics in craniofacial development and factors contributing to oral health.  I am a research assistant for the COHRA2/COHRA Smile studies: Factors Contributing to Oral Health Disparities in Appalachia. 

The goal of these studies is to investigate genetic, environmental, behavioral, and microbial contributions to the disproportionately high rate of dental caries (cavities) in children living in Appalachia.  Appalachia is a region of the eastern United States, covering parts of northern Mississippi, Alabama, Georgia, and reaching up to western New York.  The COHRA2/COHRA Smile studies include two cohorts of Caucasian (COHRA2) and African American (COHRA Smile) women and their children from West Virginia and western Pennsylvania, as children in this area demonstrate poorer oral health and elevated rates of caries earlier in life compared with national averages. 

A map depicting Appalachia

What I love about my job is that no two days are the same.  It provides me with the opportunity to work with a multidisciplinary team of research assistants, data analysts, and dental hygienists to collect and manage participant data.  My time here has helped me to develop a robust research skill set due to the nature of the work I perform.  On a daily basis, my work requires me to problem-solve, manage data, and collaborate, all while ensuring these efforts maintain the integrity of the research we perform.  My job includes a lot of organizational and office duties, processing samples received at both sites for subsequent analysis, performing phone interviews, and scheduling visits.  All of these aspects are beneficial to understanding the organization of a day working in clinic.

I get to balance all of this with seeing our participants during their visits.  The participants enrolled are pregnant women who live in West Virginia or the greater Pittsburgh area.  As a longitudinal study, we follow them and their babies through the child’s 10th birthday, with visits at yearly time points.  These visits involve a dental hygienist and a research assistant (such as myself) performing a dental screening of mother and child and collecting saliva and other oral samples for DNA and microbial environment analysis.  Having a six-year-old ask you why their mom is spitting in a tube is a great way to practice explaining genetics to a young audience! Additionally, we track children’s growth, and survey behavioral, environmental, psychosocial, and socioeconomic factors and exposures that the mothers report at the visits and with periodic phone interviews.  

The CCDG has a rich library of data available from which I will be able to develop my thesis project.  Because of the wealth of data available, I have the opportunity to not only develop a project I am passionate about, but also contribute directly to the study’s aims.  I am interested in the ways that genetics can influence public health and policy related to common diseases, so I will be developing a project that investigates relationships between genetic factors, dental caries, and smoking.  It is important to consider potential genetic factors in dental care when they matter, especially when developing interventions for a population that may be at higher risk.  I aim to discuss the implications for intervention and management when genetics does and does not play a role in oral health.

I had been working in this position for almost a year prior to starting my genetic counseling training, and I could not feel more strongly that my experience with COHRA has helped to make me a better counselor.  From the participant’s perspective, being in a research study is always unfamiliar at first, so I have learned how to give guidance for what the mothers can expect during their time as a participant and at each study visit.  I’ve also grown to appreciate how crucial the informed consent process is, and explaining to potential participants that they will not get a direct return of results (because research information is de-identified) is great practice in talking about a confusing topic, like a genetic counselor might do with a variant of uncertain significance.  Asking an exhaustive list of health and diet questions during phone interviews is also reflective of what it is like to take a family history, and it takes practice to feel comfortable doing this in a way that is personable while staying on-topic, since we are asking mothers about their children.  And, of course, doing all of this research with young children in the room means we often have to explain every step of our process to very curious minds!  It is excellent practice in using patient-friendly language to explain complex topics.

Though dental genetics is not what I had in mind when I decided I wanted to be a genetic counselor, what this job has taught me the most is to be really open to new experiences.  My work environment and my team are the best I could have asked for; they are always supportive of my educational endeavors and have become close friends.  I am thankful for great mentorship at every level, and I know that I am a valued member of their team.  For all of these reasons, I am excited to finish out my graduate career as a research assistant with the COHRA team and the rest of the CCDG!  

Lauren Winter, Graduate Student Research Assistant – COHRA2/COHRA Smile Projects, Center for Craniofacial and Dental Genetics
Class of 2020