6.06.2016

Traveling to Nicaragua

Hola!

A couple of months ago I embarked on a journey to Managua, Nicaragua with a team from Cincinnati Children's Hospital Medical Center (CCHMC) to help provide different types of services, education, and support for children with disabilities and their families. You might ask how I got here…so let me back up.

As a second year genetic counseling student, I am a trainee in the LEND Program. LEND stands for Leadership Education in Neurodevelopmental and related Disabilities. This program is designed to train culturally competent, family-centered interdisciplinary leaders who will strive to improve the health of infants, children, and adolescents with or at risk for developmental disabilities. Trainees are afforded many opportunities through LEND during the year and traveling to Nicaragua was one opportunity that sparked my interest. I decided to apply, which consisted of an essay submission, and was offered a spot on the team. Ecstatic and terrified all at the same time, I committed and began planning. 

February arrived sooner than I had anticipated. Before I knew it, I was sitting on the plane from Houston to Nicaragua with different thoughts flooding my mind. What should I expect upon arrival? Would I be accepted by the people of Nicaragua? How will the language barrier impact our team’s goals? And most importantly, would I be able to help? Although CCHMC has a longstanding relationship with Tesoros de Dios (http://www.tesorosdedios.org), the organization we worked with, a genetic counseling trainee had never gone on this trip before.


After a long Saturday of traveling, we arrived in Mangua and settled into the guest house. Sunday was well spent exploring Granada, gathering souveniers, and eating a lot of plantains. I remember looking out at the lake and thinking to myself, “This is where I’m supposed to be.”

The next five days were a whirlwind. I was paired with Dr. Susan Wiley, co-director of the Division of Developmental and Behavioral Pediatrics at CCHMC and developmental and behavioral pediatrician. We saw new visits and follow-ups and I even counseled parents of patients while their child was receiving physical or speech therapy. I saw a variety of patients with different genetic conditions, including Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 21, Joubert syndrome, and others. I assessed parents’ perception of disability and offered psychosocial support to patients and families as needed. Due to cultural and social misconceptions about disability, there were often tears when I provided recurrence risk or limited liability.

In addition to the clinical focus, I contributed to a Developmental Disabilities Seminar with Dr. Wiley at University of Nicaragua-Managua. We spoke with professors, healthcare providers, and others in attendance about the field of developmental disabilities and sharing unexpected news with parents. Everyone was very warm, welcoming, and receptive to the information.

One of my goals for this opportunity was to recognize the role genetic counselors can play in the field of international disability and better understand the challenges individuals with disabilities and their families face in other countries. There is a lack of resources in Nicaragua in general, not to mention for those with disabilities. With only one genetic specialist, genetic testing is widely unavailable unless a patient travels to another country for services.

Another one of my goals was to gain more experience with other healthcare providers and specifically in the setting of international disability. I was able to observe psychologists, physical therapists, speech/language pathologists, and others provide services and recommendations to the patients as well as the staff of Tesoros de Dios. I know that the knowledge I gained there can be applied to the patient care that I will provide in the U.S.

The Nicaragua travel opportunity truly provided a basis for understanding international disability challenges, the lack of resources many countries have, and how genetic counselors can potentially play a role in the field. 

--Randa Newman, genetic counseling student



2.08.2016

Elective Rotation: Psychiatry

Attention-deficit/hyperactivity disorder, bipolar disorder, generalized anxiety disorder, major depression, obsessive compulsive disorder, schizophrenia, and substance abuse/dependence.  These are all psychiatric illnesses and are all relatively common.  In fact, if you go through someone’s family history you will more than likely run across at least one family member with a history of mental illness.  But how many of them can be seen running in families and have a known genetic component?  If you said all of them, you are correct.

Most of our training as genetic counseling students is focused on less common diseases with better characterized genetics: cystic fibrosis, Lynch syndrome, neurofibromatosis 1 & 2, sickle cell anemia, etc.  However, we all invariably encounter families containing members with more common diseases, such as cancer, diabetes, heart disease, and, of course, mental illness.  While we do receive training in discussing the genetics of these conditions with patients, we rarely get to see patients for whom these diseases and how they affect their families are a main concern. 

Cincinnati Genetic Counseling Program
As a person whose life has been tremendously impacted by mental illness in many ways, I have been especially interested in learning more about these conditions. I was also interested in learning about the experiences of individuals and families affected by these conditions, including  ways to help people cope with mental illness and decrease the stigma surrounding mental illness.

One of the greatest aspects of the University of Cincinnati’s genetic counseling program is that we have the option to do an elective rotation in our second year.  An even better feature is that we have the opportunity and the support to create a rotation if we have a specific interest.  After discussing my interest in psychiatry with our program faculty, I talked to the director of the Division of Psychiatry at Cincinnati Children’s who was very interested in the idea of an elective rotation and helped me set up a 5-week observational rotation with a few psychiatrists.

During my rotation, I shadowed three psychiatrists in very different settings.  I was in a general pediatric psychiatry setting, the Tuberous Sclerosis clinic, and an inpatient unit for children with both psychiatric diagnoses and developmental disabilities.  I saw a total of 19 patients outside of the inpatient unit with a wide variety of psychiatric diagnoses, averaging three per patient.

I learned quite a bit about different psychiatric illnesses: how they are diagnosed, how they present, and how they are treated.  Along those same lines, I was able to create a resource for myself and others containing a list of commonly prescribed medications and what they are primarily used to treat.  During my rotation, I picked up as many resources as I could find in the form of flyers, newsletters, and pamphlets that are specific to the psychiatric services at Cincinnati Children’s.

I hope that my experience in psychiatry and in setting up the rotation will inspire others to pursue a similar rotation.  As psychiatric genetic counseling becomes more widespread, it will be easier for others to get involved in talking to families about the genetics of mental illness.  For now, though, I think it is important that we start that conversation with psychiatry and really show them our interest in merging the two fields.

- Meghann Reardon, second year student

10.27.2015

2015 Ohio Genetic Counselor Meeting

A few weeks ago, I attended the 2015 Annual Ohio Genetic Counselors Meeting along with my classmates Kait and Meghann. This was our first genetic counseling conference and we were excited to find out what was discussed and what the event would be like.

The conference was in Columbus and consisted of eight different 30-45 minute presentations. The presentations covered a variety of topics relevant to genetic counseling, including the newest therapies in development for muscular dystrophies, perinatal ethics, and new technology for biopsy free tumor sequencing and how it may impact cancer treatment. While it was a long day of sitting and listening to lectures, the short length of each one and the wide variation in topics kept the meeting engaging.

One thing that I realized while listening to the lectures was how much I understood. I was able to make connections to the patients I’ve seen and clinics I’ve rotated in. Only a year ago I was taking quizzes on medical terminology and just starting to learn how to take pedigrees. I can’t believe how much I have learned and grown in the past year.

During the break for lunch, we sat with a couple of our classmates who graduated last May and have now been working for a few months. This was a great opportunity to learn about the transition from graduate training into working and how that has been for them. We were also able to get advice about the job search process and studying for the board exam. The environment in the lunch room was loud and exciting, as many people had the opportunity to sit and talk with old classmates and colleagues who they had not seen since last year.

After the conference, we were also able to network with the genetic counseling students from Ohio State and Case Western who were also at the meeting. This was a very fun opportunity to learn more about their programs and discuss particularly interesting indications that we’ve gotten to see. 

Overall, I had a lot of fun attending the Ohio Genetic Counselors Meeting. It was a good learning opportunity to find out more about the topics presented and what a conference is like. In addition, I really enjoyed getting to feel part of a larger community of genetic counselors.


--Hayley Grandine, second year student

9.21.2015

Marfan Conference 2015

Me (left) and my sister, Madeline
Marfan syndrome, a rare connective tissue disorder, has impacted my life in ways that are both challenging and rewarding. Although I do not have Marfan, my father and younger sister were both diagnosed in 1999. Ultimately, growing up learning and teaching others about Marfan syndrome has allowed me to forge meaning from something that might otherwise be considered a misfortune. By my sophomore year of college, I discovered that genetic counseling is a perfect way to combine my personal experiences and love of science into a career. I am grateful to be involved in a career that can help others with genetic conditions live in a way that is meaningful. 

This year, I accompanied my sister to the Marfan Foundation’s annual family conference in Chicago, IL. The conference is an amazing four day event that includes free medical assessments, workshops, presentations from leading medical experts, and panels where participants can get their questions answered. This year’s conference had two special attendees – Isaiah Austin, the Baylor basketball player who was diagnosed with Marfan syndrome prior to his NBA draft in 2014, and Austin Carlisle, lead singer of the band Of Mice and Men, who also has Marfan syndrome. Having celebrities become involved with the Marfan Foundation has been helpful because the media attention has led to increased awareness and diagnoses that can save lives.

My 5'10" sister, Madeline, and her good friend, Andrea
For many attendees, the Marfan conference is an opportunity to connect with others who face the same challenges. My sister enjoys being around others who look like her and has formed many close friendships over the years. She particularly loves “feeling short” – at 5’10”, my sister is usually one of the tallest girls around, but at the Marfan conference she is below average height!

I attended several Marfan conferences as a teen, but this year was my first time experiencing the conference as an adult and also as a genetic counseling student. As a genetic counselor, I saw the conference through different eyes. I was much more focused on the educational aspects than in the past, although I certainly enjoyed catching up with old friends and meeting new people.

I attended several educational workshops during the conference. Topics of those workshops included genetic testing, heart-related care during pregnancy, staying fit with Marfan syndrome, and family planning options. During the sessions, I witnessed conference attendees share their personal stories about their diagnostic journeys and surgeries and listened to their questions and concerns. All of the information I learned and experiences interacting with conference attendees will be incorporated into sessions with future patients.

Attending an educational conference is invaluable way to obtain insight into what it is like to live with a genetic disorder and the wide variation in peoples’ experiences.  It gives you the opportunity to get to know people who live with a genetic disorder as individuals and friends rather than just a patient, an experience which I believe allows me to better empathize with patients. You will witness firsthand the power of support networks for those living with a genetic disorder. Many national support groups for various genetic conditions host annual conferences and I wholeheartedly recommend attendance for other genetic counseling students or practicing genetic counselors. Even more importantly, be sure to tell your patients about any conference that is offered for their diagnosis and encourage them to attend!

--Hannah Balka, second year student

2.06.2015

Attending the AUCD Conference

As a trainee in the Leadership Education in Neurodevelopmental and related Disabilities (LEND) program, I had the opportunity to attend the 2014 Association of University Centers on Disabilities (AUCD) Conference in Washington, DC. As a first time attendee at the AUCD Conference, I was not exactly sure what to expect, but I was excited for the opportunity to expand my knowledge in issues related to disability, policy, and advocacy. I learned a lot from the scheduled events as anticipated, but I didn’t realize how much I would also learn from the diverse group of attendees at the conference.

While at the conference I was able to hear panelists discuss engaging the public in disability issues and the future of education, employment, and community living for people with disabilities. As panelist Emily Ladau stated, “The disability community is talking a lot to itself, but now we need to make disability more accessible to the community.” One method discussed involves making disability more visible and personal to community members. If people are more aware of their own relationships with individuals with disabilities then they will be more invested in disability issues. I found this discussion to be especially interesting because it had many parallels to the awareness that is needed for genetic conditions and related genetics issues in the community. Besides hearing from the panelists, various sessions reiterated to me the importance of genetic counselors communicating and promoting awareness about genetic conditions in the community and to other disciplines. I even gained some ideas for engaging diverse stakeholders to achieve this goal.

Overall, attending the 2014 AUCD Conference was a wonderful opportunity to better understand the current practices and policies that affect the healthcare and well-being of people with disabilities, as well as to learn what disability policy might look like in the future. This conference also inspired me to become more involved in advocating for individuals with disabilities and genetic conditions in the future. A remarkable group of individuals attended the AUCD Conference and I am honored to have been among them.


--Caitlin Campbell, Second Year Student

11.21.2014

First Year GC Students Have Some Fun

While their second years were away at the NSGC Annual Education Conference, the class of 2016 got creative and made this fun video.  

11.13.2014

GC Internship Experience in an Industry Setting

This summer I had the privilege of completing an internship with the company Counsyl for five weeks in San Francisco, California.  Counsyl is a medical technology company that made a name for itself with its Family Prep Screen expanded carrier panel, which screens for over 100 different autosomal recessive and x-linked conditions.  This was the first year that they offered a competitive genetic counseling internship.  They requested my CV and two personal statements followed by three Skype interviews: two with genetic counselors with directorial roles and one with the Chief Scientific Officer. I was excited to even be considered for this opportunity.

Overall, the internship was an amazing experience.  My main project was to update the Family Prep Screen, which involved looking into the current literature for any updates to gene and variant classifications.  I was also able to talk with several genetic counselors that work for Counsyl and learn about their roles within the company. 

Interning with a commercial lab allowed me to see all of the moving parts that I didn’t know existed.  From my past experiences and classes, I learned about the technology behind genetic testing, but I didn’t know about the numerous different disciples needed to keep a commercial lab like Counsyl up and running.  It takes an abundant amount of engineers, programmers, scientists, and more working together and constantly communicating in order for the company to be successful and profitable.

This internship really opened my eyes to some of the different roles genetic counselors can have outside of the clinical setting.  At Counsyl, career options for genetic counselors extend into positions such as project directing and marketing.  Talking with these individuals illustrated the diverse potential of my master’s degree, helping me to appreciate my experience at UC even more.

--Joe Jacher, second year student

9.23.2014

Experiental Learning


On the last day of fall 2014 Orientation week, all of the students and faculty in the Genetic Counseling Program attended an all-day workshop known as Experiential Learning. The goal of Experiential Learning is to help members of a team learn about themselves and others, bond, and explore effective teamwork while going through a series of difficult problem-solving tasks. After each activity was completed, the team discussed what concepts we learned that could help us as a team throughout the coming year.

One of our activities was what I will refer to as the “jump rope challenge.” The task was to have every person present jump the rope once while two members were handling the rope – the trick was that the jumping had to be done in pairs and it had to be continuous, so as one pair jumped, another pair would simultaneously run under the jump rope. If any pair tripped over the rope, the whole team had to start over again. Given that we had 29 people, it was incredibly difficult for all of us to get through under the requirements. We called a team meeting and decided to modify the challenge so that we were allowed one “empty turn” of the rope in between pairs of people so as to help with timing. As we tried over and over to complete the task, we became aware of the value of encouragement and support among teammates. Instead of becoming annoyed when someone repeatedly tripped over the rope, we offered tips and reassurance that they would get it the next try. This task also affirmed the importance of a positive attitude – remaining optimistic and engaged in the process really helped our team towards our goal.

Fortunately, we managed to complete the challenge before the end of the allotted time and we were all ecstatic about our achievement. As a first-year student facing a challenging year of graduate school, I feel very grateful to be surrounded by such a supportive team. I can see similarities between the coming year and the jump rope challenge – at the beginning, it seemed overwhelmingly demanding and many of us did not expect that we would be able to complete it. As a team, we made a plan for the best strategy and modified that strategy when it was not working for us. We succeeded in the end by encouraging each other but also by pushing ourselves towards our goal and staying positive even when we were struggling. I feel that this is a metaphor for the year ahead of us and although I am nervous, I am also confident that we will all succeed because we have such an amazing support system in the UC Genetic Counseling Program.

Although I was exhausted by the end of Experiential Learning, I was very glad for the opportunity to get to know my classmates and supervisors. I believe that we bonded over the difficult tasks and learned a lot about our personal leadership styles and how we can be a more cohesive team in the upcoming academic year. I am confident after Experiential Learning that honoring the teamwork principles we learned will allow the UC GCP to conquer any challenge that comes our way.
-          
           --Hannah Balka  

7.17.2014

Bereavement Training Conference

This summer I had the opportunity to attend the Resolve Through Sharing Bereavement Training on Perinatal Death conference with several other genetic counselors from CCHMC. Attending this conference allowed me the opportunity to expand my knowledge on the process and emotions that patients and families go through when experiencing a perinatal death. During the conference I was able to discuss practices and policies at other hospitals with other health care professionals, including social workers and labor and delivery nurses. I found it especially helpful to attend the conference with other genetic counselors. This allowed me to hear and learn from some of their experiences and reflect on how this will impact my own future genetic counseling career.

Although I am currently undecided on what I would like to specialize in upon graduation, I feel that this experience has the potential to translate into any specialty of genetic counseling. No matter what the age of the patients are that I am working with there is always the chance to be impacted by a loss. During my summer rotation I was able to put some of the information I learned into practice after two of my pediatric patients passed away. We were able to help the mother talk through difficult decisions she was going to have to make and then provide bereavement resources. Additionally during my summer rotation, I was involved with a case where a difficult loss had been recently experienced. During this particular situation I was able to include some of the information and knowledge from Resolve Through Sharing into my psychosocial counseling.

I am very grateful for the opportunity to attend this conference. I’m glad that I have the foundation and framework to build relationships and comfort patients and families when going through difficult times related to perinatal death. This was invaluable experience that I highly encourage other genetic counseling students take advantage of in the future. 

--Katlin Allsbrook

5.06.2014

Pharmacogenomics Rotation

In follow-up to our series on elective rotations, Krista Qualmann writes below about her experiences rotating at a Pharmacogenomics Company.  Though this was not an elective rotation, Krista was the first person to participate in this opportunity.  Also check out our previous elective rotation posts about the International Adoption Center, Starshine Hospice, and Bioethics.

One of the things that drew me to the University of Cincinnati’s Genetic Counseling Program was the wide variety of clinical rotation opportunities.  I think that it is important to gain experience both with different supervisors and in different settings in order to gain a full picture of the variety of roles that genetic counselors can participate in during their career.  This spring I had the opportunity to be the first genetic counseling student to rotate through a newly added pharmacogenomics and industry rotation at Assurex Health (http://assurexhealth.com). 

Assurex Health is a personalized medicine company that uses their “GeneSight” testing panels to combine an individual’s pharmacogenetic testing results with knowledge of drug metabolism pathways in order to help physicians determine which psychotropic, ADHD, or pain medications may work best for patients.  During my rotation, I participated in weekly Science Team meetings, which included company leaders, employees, and other rotating students, such as PharmD candidates and undergraduate co-ops.  There, various team members shared their progress on individual research projects and received critique in a collaborative working environment.  I was assigned my own research project in which I investigated the merit of adding an additional gene to one of the company’s panels.  I presented the results of my research at the Science Team meeting at the conclusion of my rotation.

In addition to my research, I practiced customer service responsibilities by participating in physician and patient consults via telephone.  I also worked with the marketing team to help create physician and patient-friendly education material to be added to Assurex’s website.  As an added bonus, I received my own GeneSight test results and was able to experience first-hand what it is like to learn those results and incorporate them into my personal identity.

During this rotation, I was able to explore many of the non-traditional roles that genetic counselors are taking on in laboratory and industry positions.  I think that this is an important opportunity for students to have, especially as the demand for genetic counselors in industry increases.  Genetic counselors are trained in a unique skill set that can be applied to many different situations.  As our field expands, we also need to be able to apply those skills to new environments.  I had a wonderful experience working with everyone at Assurex Health and highly recommend the rotation to future students.

--Krista Qualmann